39 results on '"Kidd, Alexa"'
Search Results
2. The impact of coding germline variants on contralateral breast cancer risk and survival
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Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Grenaker Alnæs, Grethe I., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix-Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Morra, Anna, Mavaddat, Nasim, Muranen, Taru A., Ahearn, Thomas U., Allen, Jamie, Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Behrens, Sabine, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Camp, Nicola J., Carvalho, Sara, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Czene, Kamila, Decker, Brennan, Dennis, Joe, Dörk, Thilo, Dorling, Leila, Dunning, Alison M., Ekici, Arif B., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Geurts-Giele, Willemina R.R., Giles, Graham G., Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A., He, Wei, Heikkilä, Päivi, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, Jakubowska, Anna, Jung, Audrey Y., Keeman, Renske, Kristensen, Vessela N., Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mulligan, Anna Marie, Newman, William G., Park-Simon, Tjoung-Won, Peterlongo, Paolo, Pharoah, Paul D.P., Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Spurdle, Amanda B., Tomlinson, Ian, Truong, Thérèse, van Veen, Elke M., Vreeswijk, Maaike P.G., Wang, Qin, Wendt, Camilla, Yang, Xiaohong R., Nevanlinna, Heli, Devilee, Peter, Easton, Douglas F., and Schmidt, Marjanka K.
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- 2023
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3. Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage
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Ercu, Maria, Mücke, Michael B., Pallien, Tamara, Markó, Lajos, Sholokh, Anastasiia, Schächterle, Carolin, Aydin, Atakan, Kidd, Alexa, Walter, Stephan, Esmati, Yasmin, McMurray, Brandon J., Lato, Daniella F., Yumi Sunaga-Franze, Daniele, Dierks, Philip H., Flores, Barbara Isabel Montesinos, Walker-Gray, Ryan, Gong, Maolian, Merticariu, Claudia, Zühlke, Kerstin, Russwurm, Michael, Liu, Tiannan, Batolomaeus, Theda U.P., Pautz, Sabine, Schelenz, Stefanie, Taube, Martin, Napieczynska, Hanna, Heuser, Arnd, Eichhorst, Jenny, Lehmann, Martin, Miller, Duncan C., Diecke, Sebastian, Qadri, Fatimunnisa, Popova, Elena, Langanki, Reika, Movsesian, Matthew A., Herberg, Friedrich W., Forslund, Sofia K., Müller, Dominik N., Borodina, Tatiana, Maass, Philipp G., Bähring, Sylvia, Hübner, Norbert, Bader, Michael, and Klussmann, Enno
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- 2022
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4. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
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Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, and Biesecker, Leslie G
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Genetics ,Dental/Oral and Craniofacial Disease ,Pediatric ,Clinical Research ,Rare Diseases ,Congenital Structural Anomalies ,Aetiology ,2.1 Biological and endogenous factors ,Abnormalities ,Multiple ,Craniofacial Abnormalities ,Genotype ,Humans ,Kruppel-Like Transcription Factors ,Mouth Abnormalities ,Mutation ,Nerve Tissue Proteins ,Pallister-Hall Syndrome ,Phenotype ,Polydactyly ,Syndactyly ,Zinc Finger Protein Gli3 ,GLI3 ,Greig syndrome ,Pallister-Hall syndrome ,oral-facial-digital syndrome ,Clinical Sciences ,Genetics & Heredity - Abstract
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.
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- 2010
5. Phosphodiesterase 3A activation for cardioprotection
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Ercu, Maria, primary, Mücke, Michael, additional, Pallien, Tamara, additional, Marko, Lajos, additional, Sholokh, Anastasiia, additional, Aydin, Atakan, additional, Kidd, Alexa, additional, Walter, Stephan, additional, Esmati, Yasmin, additional, McMurray, Brandon, additional, Lato, Daniella, additional, Sunaga-Franze, Daniele Yumi, additional, Gong, Maolian, additional, Merticariu, Claudia, additional, Zühlke, Kerstin, additional, Russwurm, Michael, additional, Liu, Tiannan, additional, Bartolomaeus, Theda, additional, Schelenz, Stefanie, additional, Taube, Martin, additional, Napieczynska, Hanna, additional, Heuser, Arnd, additional, Lehmann, Martin, additional, Qadri, Fatimunnisa, additional, Popova, Elena, additional, Langanki, Reika, additional, Forslund, Sofia, additional, Müller, Dominik, additional, Borodina, Tatiana, additional, Bähring, Sylvia, additional, Maass, Philipp, additional, Hübner, Norbert, additional, Luft, Friedrich, additional, Bader, Michael, additional, and Klussmann, Enno, additional
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- 2022
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6. Abstract 010: Phosphodiesterase 3a Catalytic-domain Mutants Cause Hypertension With Brachydactyly
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Kayser, Charlotte, primary, Bock, Andreas, additional, Leeuwen, Lisette, additional, Herkert, Johanna, additional, Vos, Yvonne, additional, Kidd, Alexa, additional, Aydin, Atakan, additional, Daumke, Oliver, additional, Lohse, Martin, additional, and Luft, Friedrich C, additional
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- 2022
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7. Three families with Perry syndrome from distinct parts of the world
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Tacik, Pawel, Fiesel, Fabienne C., Fujioka, Shinsuke, Ross, Owen A., Pretelt, Felipe, Castañeda Cardona, Camilo, Kidd, Alexa, Hlavac, Michael, Raizis, Anthony, Okun, Michael S., Traynor, Sharleen, Strongosky, Audrey J., Springer, Wolfdieter, and Wszolek, Zbigniew K.
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- 2014
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8. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
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Guimier, Anne, primary, Achleitner, Melanie T., additional, Moreau de Bellaing, Anne, additional, Edwards, Matthew, additional, de Pontual, Loïc, additional, Mittal, Kirti, additional, Dunn, Kyla E., additional, Grove, Megan E., additional, Tysoe, Carolyn J., additional, Dimartino, Clémantine, additional, Cameron, Jessie, additional, Kanthi, Anil, additional, Shukla, Anju, additional, van den Broek, Florence, additional, Chatterjee, Diptendu, additional, Alston, Charlotte L., additional, Knowles, Charlotte V., additional, Brett, Laura, additional, Till, Jan A., additional, Homfray, Tessa, additional, French, Paul, additional, Spentzou, Georgia, additional, Elserafy, Noha A., additional, Lichkus, Kate S., additional, Sankaran, Bindu P., additional, Kennedy, Hannah L., additional, George, Peter M., additional, Kidd, Alexa, additional, Wortmann, Saskia B., additional, Fisk, Dianna G., additional, Koopmann, Tamara T., additional, Rafiq, Muhammad A., additional, Merker, Jason D., additional, Parikh, Sumith, additional, Ahimaz, Priyanka, additional, Weintraub, Robert G., additional, Ma, Alan S., additional, Turner, Christian, additional, Ellaway, Carolyn J., additional, Phillips, Liza K., additional, Thorburn, David R., additional, Chung, Wendy K., additional, Kana, Sajel L., additional, Faye-Petersen, Ona M., additional, Thompson, Michelle L., additional, Janin, Alexandre, additional, McLeod, Karen, additional, McGowan, Ruth, additional, McFarland, Robert, additional, Girisha, Katta M., additional, Morris-Rosendahl, Deborah J., additional, Hurst, Anna C.E., additional, Turner, Claire L.S., additional, Hamilton, Robert M., additional, Taylor, Robert W., additional, Bajolle, Fanny, additional, Gordon, Christopher T., additional, Amiel, Jeanne, additional, Mayr, Johannes A., additional, and Doudney, Kit, additional
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- 2022
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9. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
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Guimier, Anne, primary, Achleitner, Melanie T., additional, Moreau de Bellaing, Anne, additional, Edwards, Matthew, additional, de Pontual, Loïc, additional, Mittal, Kirti, additional, Dunn, Kyla E., additional, Grove, Megan E., additional, Tysoe, Carolyn J., additional, Dimartino, Clémantine, additional, Cameron, Jessie, additional, Kanthi, Anil, additional, Shukla, Anju, additional, van den Broek, Florence, additional, Chatterjee, Diptendu, additional, Alston, Charlotte L., additional, Knowles, Charlotte V., additional, Brett, Laura, additional, Till, Jan A., additional, Homfray, Tessa, additional, French, Paul, additional, Spentzou, Georgia, additional, Elserafy, Noha A., additional, Lichkus, Kate S., additional, Sankaran, Bindu P., additional, Kennedy, Hannah L., additional, George, Peter M., additional, Kidd, Alexa, additional, Wortmann, Saskia B., additional, Fisk, Dianna G., additional, Koopmann, Tamara T., additional, Rafiq, Muhammad A., additional, Merker, Jason D., additional, Parikh, Sumith, additional, Ahimaz, Priyanka, additional, Weintraub, Robert G., additional, Ma, Alan S., additional, Turner, Christian, additional, Ellaway, Carolyn J., additional, Phillips, Liza K., additional, Thorburn, David R., additional, Chung, Wendy K., additional, Kana, Sajel L., additional, Faye-Petersen, Ona M., additional, Thompson, Michelle L., additional, Janin, Alexandre, additional, McLeod, Karen, additional, McGowan, Ruth, additional, McFarland, Robert, additional, Girisha, Katta M., additional, Morris-Rosendahl, Deborah J., additional, Hurst, Anna C.E., additional, Turner, Claire L.S., additional, Hamilton, Robert M., additional, Taylor, Robert W., additional, Bajolle, Fanny, additional, Gordon, Christopher T., additional, Amiel, Jeanne, additional, Mayr, Johannes A., additional, and Doudney, Kit, additional
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- 2021
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10. Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review
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Dulski, Jarosław, primary, Cerquera‐Cleves, Catalina, additional, Milanowski, Lukasz, additional, Kidd, Alexa, additional, Sitek, Emilia J., additional, Strongosky, Audrey, additional, Vanegas Monroy, Ana María, additional, Dickson, Dennis W., additional, Ross, Owen A., additional, Pentela‐Nowicka, Jolanta, additional, Sławek, Jarosław, additional, and Wszolek, Zbigniew K., additional
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- 2021
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11. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations
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Stutterd, Chloe A., primary, Kidd, Alexa, additional, Florkowski, Chris, additional, Janus, Edward, additional, Fanjul, Miriam, additional, Raizis, Anthony, additional, Wu, Teddy Y., additional, Archer, John, additional, Leventer, Richard J., additional, Amor, David J., additional, Lukic, Vesna, additional, Bahlo, Melanie, additional, Gow, Paul, additional, Lockhart, Paul J., additional, van der Knaap, Marjo S., additional, and Delatycki, Martin B., additional
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- 2021
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12. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
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Johnson, Nichola, Maguire, Sarah, Morra, Anna, Kapoor, Pooja Middha, Tomczyk, Katarzyna, Jones, Michael E., Schoemaker, Minouk J., Gilham, Clare, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baynes, Caroline, Freeman, Laura E. Beane, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dörk, Thilo, Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., Hooning, Maartje J., Hopper, John L., Howell, Anthony, Hunter, David J., Jager, Agnes, Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Linet, Martha, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mavroudis, Dimitrios, Mayes, Rebecca, Meindl, Alfons, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Nielsen, Sune F., Nordestgaard, Børge G., Obi, Nadia, Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Orban, Ester, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Rennert, Hedy S., Ruddy, Kathryn J., Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Scott, Christopher, Shu, Xiao-Ou, Simard, Jacques, Smichkoska, Snezhana, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., van Veen, Elke M., Wang, Sophia S., Weinberg, Clarice R., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Howie, A. Forbes, Peto, Julian, dos-Santos-Silva, Isabel, Swerdlow, Anthony J., Chang-Claude, Jenny, Schmidt, Marjanka K., Orr, Nick, Fletcher, Olivia, Børresen-Dale, Anne-Lise, Alnæs, Grethe I. Grenaker, Sahlberg, Kristine K., Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Bowtell, David D. L., deFazio, Anna, Webb, Penelope M., Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O’Connell, Shona, O’Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Johnson, Nichola [0000-0002-8230-5662], Kapoor, Pooja Middha [0000-0001-5503-8215], Dennis, Joe [0000-0003-4591-1214], Brenner, Hermann [0000-0002-6129-1572], Canzian, Federico [0000-0002-4261-4583], Cox, Angela [0000-0002-5138-1099], Fasching, Peter A. [0000-0003-4885-8471], Hart, Steven N. [0000-0001-7714-2734], Jakubowska, Anna [0000-0002-5650-0501], Kurian, Allison W. [0000-0002-6175-9470], Peterlongo, Paolo [0000-0001-6951-6855], Sawyer, Elinor J. [0000-0001-8285-4111], Tomlinson, Ian [0000-0003-3037-1470], Truong, Thérèse [0000-0002-2943-6786], Pharoah, Paul D. P. [0000-0001-8494-732X], Peto, Julian [0000-0002-1685-8912], Apollo - University of Cambridge Repository, Medical Oncology, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Helsinki University Hospital Area, University of Helsinki, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Fasching, Peter A [0000-0003-4885-8471], Hart, Steven N [0000-0001-7714-2734], Kurian, Allison W [0000-0002-6175-9470], Sawyer, Elinor J [0000-0001-8285-4111], and Pharoah, Paul DP [0000-0001-8494-732X]
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Cancer Research ,CYP3A5 ,Physiology ,Genome-wide association study ,Breast cancer ,0302 clinical medicine ,Epidemiology ,Receptors ,IMPUTATION ,Medicine ,Cytochrome P-450 CYP3A ,Cancer genetics ,Progesterone ,0303 health sciences ,article ,1112 Oncology and Carcinogenesis, 1117 Public Health and Health Services ,AOCS Group ,Single Nucleotide ,humanities ,3. Good health ,Receptors, Estrogen ,Oncology ,Hormone receptor ,030220 oncology & carcinogenesis ,kConFab Investigators ,Pregnanediol ,Female ,Receptors, Progesterone ,Medical Genetics ,medicine.medical_specialty ,Estrone ,Urinary system ,3122 Cancers ,ABCTB Investigators ,631/67/2324 ,Breast Neoplasms ,Polymorphism, Single Nucleotide ,NBCS Collaborators ,03 medical and health sciences ,Cancer epidemiology ,SDG 3 - Good Health and Well-being ,631/67/68 ,Humans ,Oncology & Carcinogenesis ,Allele ,GENOME-WIDE ASSOCIATION ,Polymorphism ,CYP3A7 ,Alleles ,030304 developmental biology ,Medicinsk genetik ,business.industry ,631/67/1347 ,medicine.disease ,Case-Control Studies ,Genome-Wide Association Study ,Premenopause ,Estrogen ,business ,Hormone - Abstract
Background Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. Methods We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry. Results For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (−49.2%, 95% CI −56.1% to −41.1%, P = 3.1 × 10–18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (−26.7%, 95% CI −39.4% to −11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82–0.91, P = 6.9 × 10–8). Conclusions The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.
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- 2021
13. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
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Fischer, Björn, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hülya, Alanay, Yasemin, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A., van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva, and Kornak, Uwe
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- 2012
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14. The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males
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Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A., Jeannette M., Mathijssen, Irene M.J., Lourenco, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., and Wilkie, Andrew O.M.
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Gene mutations -- Research ,Mosaicism -- Health aspects ,Biological sciences - Abstract
The discovery of causative mutations in the EFNB1 gene is exploited, which encodes ephrin-B1, to survey the molecular alterations in 59 families. Somatic mosaicism was demonstrated in 6 of 53 informative families, and of 17 germline mutations in individuals for whom the parental origin of mutation could be demonstrated, 15 arose from the father.
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- 2006
15. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
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Kramer, Iris, primary, Hooning, Maartje J., additional, Mavaddat, Nasim, additional, Hauptmann, Michael, additional, Keeman, Renske, additional, Steyerberg, Ewout W., additional, Giardiello, Daniele, additional, Antoniou, Antonis C., additional, Pharoah, Paul D.P., additional, Canisius, Sander, additional, Abu-Ful, Zumuruda, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Aronson, Kristan J., additional, Augustinsson, Annelie, additional, Becher, Heiko, additional, Beckmann, Matthias W., additional, Behrens, Sabine, additional, Benitez, Javier, additional, Bermisheva, Marina, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Bonanni, Bernardo, additional, Brauch, Hiltrud, additional, Bremer, Michael, additional, Brucker, Sara Y., additional, Burwinkel, Barbara, additional, Castelao, Jose E., additional, Chan, Tsun L., additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chenevix-Trench, Georgia, additional, Choi, Ji-Yeob, additional, Clarke, Christine L., additional, Collée, J. Margriet, additional, Couch, Fergus J., additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Daly, Mary B., additional, Devilee, Peter, additional, Dörk, Thilo, additional, dos-Santos-Silva, Isabel, additional, Dunning, Alison M., additional, Dwek, Miriam, additional, Eccles, Diana M., additional, Evans, D. Gareth, additional, Fasching, Peter A., additional, Flyger, Henrik, additional, Gago-Dominguez, Manuela, additional, García-Closas, Montserrat, additional, García-Sáenz, José A., additional, Giles, Graham G., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Haiman, Christopher A., additional, Håkansson, Niclas, additional, Hamann, Ute, additional, Hartman, Mikael, additional, Heemskerk-Gerritsen, Bernadette A.M., additional, Hollestelle, Antoinette, additional, Hopper, John L., additional, Hou, Ming-Feng, additional, Howell, Anthony, additional, Ito, Hidemi, additional, Jakimovska, Milena, additional, Jakubowska, Anna, additional, Janni, Wolfgang, additional, John, Esther M., additional, Jung, Audrey, additional, Kang, Daehee, additional, Kets, C. Marleen, additional, Khusnutdinova, Elza, additional, Ko, Yon-Dschun, additional, Kristensen, Vessela N., additional, Kurian, Allison W., additional, Kwong, Ava, additional, Lambrechts, Diether, additional, Le Marchand, Loic, additional, Li, Jingmei, additional, Lindblom, Annika, additional, Lubiński, Jan, additional, Mannermaa, Arto, additional, Manoochehri, Mehdi, additional, Margolin, Sara, additional, Matsuo, Keitaro, additional, Mavroudis, Dimitrios, additional, Meindl, Alfons, additional, Milne, Roger L., additional, Mulligan, Anna Marie, additional, Muranen, Taru A., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Newman, William G., additional, Olshan, Andrew F., additional, Olson, Janet E., additional, Olsson, Håkan, additional, Park-Simon, Tjoung-Won, additional, Peto, Julian, additional, Petridis, Christos, additional, Plaseska-Karanfilska, Dijana, additional, Presneau, Nadege, additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Rennert, Gad, additional, Romero, Atocha, additional, Roylance, Rebecca, additional, Saloustros, Emmanouil, additional, Sawyer, Elinor J., additional, Schmutzler, Rita K., additional, Schwentner, Lukas, additional, Scott, Christopher, additional, See, Mee-Hoong, additional, Shah, Mitul, additional, Shen, Chen-Yang, additional, Shu, Xiao-Ou, additional, Siesling, Sabine, additional, Slager, Susan, additional, Sohn, Christof, additional, Southey, Melissa C., additional, Spinelli, John J., additional, Stone, Jennifer, additional, Tapper, William J., additional, Tengström, Maria, additional, Teo, Soo Hwang, additional, Terry, Mary Beth, additional, Tollenaar, Rob A.E.M., additional, Tomlinson, Ian, additional, Troester, Melissa A., additional, Vachon, Celine M., additional, van Ongeval, Chantal, additional, van Veen, Elke M., additional, Winqvist, Robert, additional, Wolk, Alicja, additional, Zheng, Wei, additional, Ziogas, Argyrios, additional, Easton, Douglas F., additional, Hall, Per, additional, Schmidt, Marjanka K., additional, Børresen-Dale, Anne-Lise, additional, Sahlberg, Kristine, additional, Ottestad, Lars, additional, Kåresen, Rolf, additional, Schlichting, Ellen, additional, Holmen, Marit Muri, additional, Sauer, Toril, additional, Haakensen, Vilde, additional, Engebråten, Olav, additional, Naume, Bjørn, additional, Fosså, Alexander, additional, Kiserud, Cecile, additional, Reinertsen, Kristin, additional, Helland, Åslaug, additional, Riis, Margit, additional, Geisler, Jürgen, additional, Alnæs, Grethe Grenaker, additional, Clarke, Christine, additional, Marsh, Deborah, additional, Scott, Rodney, additional, Baxter, Robert, additional, Yip, Desmond, additional, Carpenter, Jane, additional, Davis, Alison, additional, Pathmanathan, Nirmala, additional, Simpson, Peter, additional, Graham, J. Dinny, additional, Sachchithananthan, Mythily, additional, Amor, David, additional, Andrews, Lesley, additional, Antill, Yoland, additional, Balleine, Rosemary, additional, Beesley, Jonathan, additional, Bennett, Ian, additional, Bogwitz, Michael, additional, Botes, Leon, additional, Brennan, Meagan, additional, Brown, Melissa, additional, Buckley, Michael, additional, Burke, Jo, additional, Butow, Phyllis, additional, Caldon, Liz, additional, Campbell, Ian, additional, Chauhan, Deepa, additional, Chauhan, Manisha, additional, Christian, Alice, additional, Cohen, Paul, additional, Colley, Alison, additional, Crook, Ashley, additional, Cui, James, additional, Cummings, Margaret, additional, Dawson, Sarah-Jane, additional, deFazio, Anna, additional, Delatycki, Martin, additional, Dickson, Rebecca, additional, Dixon, Joanne, additional, Edkins, Ted, additional, Edwards, Stacey, additional, Farshid, Gelareh, additional, Fellows, Andrew, additional, Fenton, Georgina, additional, Field, Michael, additional, Flanagan, James, additional, Fong, Peter, additional, Forrest, Laura, additional, Fox, Stephen, additional, French, Juliet, additional, Friedlander, Michael, additional, Gaff, Clara, additional, Gattas, Mike, additional, George, Peter, additional, Greening, Sian, additional, Harris, Marion, additional, Hart, Stewart, additional, Hayward, Nick, additional, Hopper, John, additional, Hoskins, Cass, additional, Hunt, Clare, additional, James, Paul, additional, Jenkins, Mark, additional, Kidd, Alexa, additional, Kirk, Judy, additional, Koehler, Jessica, additional, Kollias, James, additional, Lakhani, Sunil, additional, Lawrence, Mitchell, additional, Lindeman, Geoff, additional, Lipton, Lara, additional, Lobb, Liz, additional, Mann, Graham, additional, McLachlan, Sue Anne, additional, Meiser, Bettina, additional, Milne, Roger, additional, Nightingale, Sophie, additional, O'Connell, Shona, additional, O'Sullivan, Sarah, additional, Ortega, David Gallego, additional, Pachter, Nick, additional, Patterson, Briony, additional, Pearn, Amy, additional, Phillips, Kelly, additional, Pieper, Ellen, additional, Rickard, Edwina, additional, Robinson, Bridget, additional, Saleh, Mona, additional, Salisbury, Elizabeth, additional, Saunders, Christobel, additional, Saunus, Jodi, additional, Scott, Clare, additional, Sexton, Adrienne, additional, Shelling, Andrew, additional, Southey, Melissa, additional, Spurdle, Amanda, additional, Taylor, Jessica, additional, Taylor, Renea, additional, Thorne, Heather, additional, Trainer, Alison, additional, Tucker, Kathy, additional, Visvader, Jane, additional, Walker, Logan, additional, Williams, Rachael, additional, Winship, Ingrid, additional, and Young, Mary Ann, additional
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- 2020
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16. Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype
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Scurr, Ingrid, Wilson, Louise, Lees, Melissa, Robertson, Stephen, Kirk, Edwin, Turner, Anne, Morton, John, Kidd, Alexa, Shashi, Vandana, Stanley, Christy, Berry, Margaret, Irvine, Alan D., Goudie, David, Turner, Claire, Brewer, Carole, and Smithson, Sarah
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- 2011
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17. Abstract 039: The PDE3A Gene Regulates Blood Pressure
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Luft, Friedrich C, primary, Ercu, Maria, additional, Schächterle, Carolin, additional, Marko, Lajos, additional, Maass, Philipp, additional, Zühlke, Kerstin, additional, Kidd, Alexa M, additional, Gregersen, Nerine, additional, Hübner, Norbert, additional, Hodge, Russell, additional, Molé Illas, Rosana, additional, Walter, Stephan, additional, Preissner, Robert, additional, Heuser, Arnd, additional, Anistan, Yoland-Marie, additional, Tsvetkov, Dmitry, additional, Todiras, Mihail, additional, Popova, Elena, additional, Forslund, Sofia, additional, Müller, Dominik N, additional, Gollasch, Maik, additional, Aydin, Atakan, additional, Bähring, Sylvia, additional, Bader, Michael, additional, and Klussmann, Enno, additional
- Published
- 2019
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18. The Spectrum of WRN Mutations in Werner Syndrome Patients
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Huang, Shurong, Lee, Lin, Hanson, Nancy B., Lenaerts, Catherine, Hoehn, Holger, Poot, Martin, Rubin, Craig D., Chen, Da-Fu, Yang, Chih-Chao, Juch, Heike, Dorn, Thomas, Spiegel, Roland, Oral, Elif Arioglu, Abid, Mohammed, Battisti, Carla, Lucci-Cordisco, Emanuela, Neri, Giovanni, Steed, Erin H., Kidd, Alexa, Isley, William, Showalter, David, Vittone, Janet L., Konstantinow, Alexander, Ring, Johannes, Meyer, Peter, Wenger, Sharon L., von Herbay, Axel, Wollina, Uwe, Schuelke, Markus, Huizenga, Carin R., Leistritz, Dru F., Martin, George M., Mian, Saira I., and Oshima, Junko
- Published
- 2006
- Full Text
- View/download PDF
19. De novo deletion within the telomeric region flanking the human α globin locus as a cause of α thalassaemia
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VIPRAKASIT, VIP, KIDD, ALEXA M. J., AYYUB, HELENA, HORSLEY, SHARON, HUGHES, JIM, and HIGGS, DOUGLAS R.
- Published
- 2003
20. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation
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Sargent, Carole A, Kidd, Alexa, Moore, Sue, Dean, John, Besley, Guy T N, and Affara, Nabeel A
- Published
- 2000
21. The New Zealand Neuromuscular Disease Registry: Rate of diagnoses confirmed by molecular testing
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Rodrigues, Miriam, Kidd, Alexa, Love, Donald R., and Roxburgh, Richard
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- 2015
- Full Text
- View/download PDF
22. The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients
- Author
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Rodrigues, Miriam J., primary, O’Grady, Gina L., additional, Hammond-Tooke, Graeme, additional, Kidd, Alexa, additional, Love, Donald O., additional, Baker, Ronelle K., additional, and Roxburgh, Richard H., additional
- Published
- 2017
- Full Text
- View/download PDF
23. Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis
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Sobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T H B M, Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H M, Fagerholm, Rainer, Heikkilä, Päivi, Aittomäki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli Matti, Hartikainen, Jaana M., Phillips, Kelly Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel, Brenner, Hermann, Butterbach, Katja, Arndt, Volker, Holleczek, Bernd, Hooning, Maartje J., Hollestelle, Antoinette, Martens, John W M, van Deurzen, Carolien H M, van de Water, Bob, Broeks, Annegien, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Easton, Douglas F., Pharoah, Paul D P, García-Closas, Montserrat, de Graauw, Marjo, Schmidt, Marjanka K., Aghmesheh, Morteza, Amor, David, Andrews, Lesley, Antill, Yoland, Armitage, Shane, Arnold, Leanne, Balleine, Rosemary, Bankier, Agnes, Bastick, Patti, Beesley, Jonathan, Beilby, John, Bennett, Barbara, Bennett, Ian, Berry, Geoffrey, Blackburn, Anneke, Bogwitz, Michael, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burgess, Matthew, Burke, Jo, Butow, Phyllis, Byron, Keith, Callen, David, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Clarke, Christine, Colley, Alison, Cotton, Dick, Crook, Ashley, Cui, James, Culling, Bronwyn, Cummings, Margaret, Dawson, Sarah Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Dobrovic, Alexander, Dudding, Tracy, Edkins, Ted, Edwards, Stacey, Eisenbruch, Maurice, Farshid, Gelareh, Fawcett, Susan, Fellows, Andrew, Fenton, Georgina, Field, Michael, Firgaira, Frank, Flanagan, James, Fleming, Jean, Fong, Peter, Forbes, John, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gardner, Mac, Gattas, Mike, George, Peter, Giles, Graham, Gill, Grantley, Goldblatt, Jack, Greening, Sian, Grist, Scott, Haan, Eric, Hardie, Kate, Harris, Marion, Hart, Stewart, Hayward, Nick, Healey, Sue, Heiniger, Louise, Hopper, John, Humphrey, Evelyn, Hunt, Clare, James, Paul, Jenkins, Mark, Jones, Alison, Kefford, Rick, Kidd, Alexa, Kiely, Belinda, Kirk, Judy, Koehler, Jessica, Kollias, James, Kovalenko, Serguei, Lakhani, Sunil, Leaming, Amanda, Leary, Jennifer, Lim, Jacqueline, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Meldrum, Cliff, Milne, Roger, Mitchell, Gillian, Newman, Beth, Niedermayr, Eveline, Nightingale, Sophie, O'Connell, Shona, O'Loughlin, Imelda, Osborne, Richard, Pachter, Nick, Patterson, Briony, Peters, Lester, Phillips, Kelly, Price, Melanie, Purser, Lynne, Reeve, Tony, Reeve, Jeanne, Richards, Robert, Rickard, Edwina, Robinson, Bridget, Rudzki, Barney, Saleh, Mona, Salisbury, Elizabeth, Sambrook, Joe, Saunders, Christobel, Saunus, Jodi, Sayer, Robyn, Scott, Elizabeth, Scott, Rodney, Scott, Clare, Seshadri, Ram, Sexton, Adrienne, Sharma, Raghwa, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Suthers, Graeme, Sykes, Pamela, Tassell, Margaret, Taylor, Donna, Taylor, Jessica, Thierry, Benjamin, Thomas, Susan, Thompson, Ella, Thorne, Heather, Townshend, Sharron, Trainer, Alison, Tran, Lan, Tucker, Kathy, Tyler, Janet, Visvader, Jane, Walker, Logan, Walpole, Ian, Ward, Robin, Waring, Paul, Warner, Bev, Warren, Graham, Williams, Rachael, Wilson, Judy, Winship, Ingrid, Wu, Kathy, Young, Mary Ann, Bowtell, D., Green, A., Webb, P., de Fazio, A., Gertig, D., Pharmacoepidemiology and Clinical Pharmacology, Sub Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, and Sub Clinical Pharmacology
- Subjects
Medicine(all) ,endocrine system ,Breast cancer ,skin and connective tissue diseases ,Annexin A1 ,BRCA1 and BRCA2 mutations - Abstract
Background: Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of this study is to evaluate the association between ANXA1 expression, BRCA1/2 germline carriership, specific tumor subtypes and survival in breast cancer patients. Methods: Clinical-pathological information and follow-up data were collected from nine breast cancer studies from the Breast Cancer Association Consortium (BCAC) (n = 5,752) and from one study of familial breast cancer patients with BRCA1/2
- Published
- 2015
24. Rare Complete and Partial Monosomy 7 Mosaicism Detected in a Case with FTT and Borderline Motor Delay, Subsequently Diagnosed with Juvenile MDS: An Exposition of this Case and Other Interesting Mosaic Cancer Case Studies
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Bickley, Vivienne M., primary, Parker, Elsa M., additional, Taylor, Jill C., additional, Watt, Jane E., additional, Robertson, Monique D., additional, Doudney, Kit W.E., additional, Cross, Siobhan, additional, Townsend, Janine, additional, Kidd, Alexa M.J., additional, and George, Peter M., additional
- Published
- 2014
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25. Three New Families With Perry Syndrome From Distinct Parts Of The World- Novel Mutation And Successful Treatment Attempt Of Respiratory Insufficiency (P3.086)
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Tacik, Pawel, primary, Fujioka, Shinsuke, additional, Ross, Owen, additional, Springer, Wolfdieter, additional, Fiesel, Fabienne, additional, Pretelt, Felipe, additional, Castañeda Cardona, Camilo, additional, Kidd, Alexa, additional, Hlavac, Michael, additional, Raizis, Anthony, additional, Okun, Michael, additional, and Wszolek, Zbigniew, additional
- Published
- 2014
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26. The New Zealand Neuromuscular Disease Registry
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Rodrigues, Miriam, primary, Hammond-Tooke, Graeme, additional, Kidd, Alexa, additional, Love, Donald, additional, Patel, Rakesh, additional, Dawkins, Hugh, additional, Bellgard, Matthew, additional, and Roxburgh, Richard, additional
- Published
- 2012
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27. Familial hypercholesterolaemia: A model of care for Australasia
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Watts, Gerald F., primary, Sullivan, David R, additional, Poplawski, Nicola, additional, van Bockxmeer, Frank, additional, Hamilton-Craig, Ian, additional, Clifton, Peter M., additional, O’Brien, Richard, additional, Bishop, Warrick, additional, George, Peter, additional, Barter, Phillip J., additional, Bates, Timothy, additional, Burnett, John R., additional, Coakley, John, additional, Davidson, Patricia, additional, Emery, Jon, additional, Martin, Andrew, additional, Farid, Waleed, additional, Freeman, Lucinda, additional, Geelhoed, Elizabeth, additional, Juniper, Amanda, additional, Kidd, Alexa, additional, Kostner, Karam, additional, Krass, Ines, additional, Livingston, Michael, additional, Maxwell, Suzy, additional, O’Leary, Peter, additional, Owaimrin, Amal, additional, Redgrave, Trevor G., additional, Reid, Nicola, additional, Southwell, Lynda, additional, Suthers, Graeme, additional, Tonkin, Andrew, additional, Towler, Simon, additional, and Trent, Ronald, additional
- Published
- 2011
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28. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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Hoischen, Alexander, primary, van Bon, Bregje W M, additional, Gilissen, Christian, additional, Arts, Peer, additional, van Lier, Bart, additional, Steehouwer, Marloes, additional, de Vries, Petra, additional, de Reuver, Rick, additional, Wieskamp, Nienke, additional, Mortier, Geert, additional, Devriendt, Koen, additional, Amorim, Marta Z, additional, Revencu, Nicole, additional, Kidd, Alexa, additional, Barbosa, Mafalda, additional, Turner, Anne, additional, Smith, Janine, additional, Oley, Christina, additional, Henderson, Alex, additional, Hayes, Ian M, additional, Thompson, Elizabeth M, additional, Brunner, Han G, additional, de Vries, Bert B A, additional, and Veltman, Joris A, additional
- Published
- 2010
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29. Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
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Byrnes, Ashley M, primary, Racacho, Lemuel, additional, Grimsey, Allison, additional, Hudgins, Louanne, additional, Kwan, Andrea C, additional, Sangalli, Michel, additional, Kidd, Alexa, additional, Yaron, Yuval, additional, Lau, Yu-Lung, additional, Nikkel, Sarah M, additional, and Bulman, Dennis E, additional
- Published
- 2009
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30. Neonatal Hyperparathyroidism and Pamidronate Therapy in an Extremely Premature Infant
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Fox, Lisa, primary, Sadowsky, Joel, additional, Pringle, Kevin P., additional, Kidd, Alexa, additional, Murdoch, Jean, additional, Cole, David E.C., additional, and Wiltshire, Esko, additional
- Published
- 2007
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31. The spectrum ofWRNmutations in Werner syndrome patients
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Huang, Shurong, primary, Lee, Lin, additional, Hanson, Nancy B., additional, Lenaerts, Catherine, additional, Hoehn, Holger, additional, Poot, Martin, additional, Rubin, Craig D., additional, Chen, Da-Fu, additional, Yang, Chih-Chao, additional, Juch, Heike, additional, Dorn, Thomas, additional, Spiegel, Roland, additional, Oral, Elif Arioglu, additional, Abid, Mohammed, additional, Battisti, Carla, additional, Lucci-Cordisco, Emanuela, additional, Neri, Giovanni, additional, Steed, Erin H., additional, Kidd, Alexa, additional, Isley, William, additional, Showalter, David, additional, Vittone, Janet L., additional, Konstantinow, Alexander, additional, Ring, Johannes, additional, Meyer, Peter, additional, Wenger, Sharon L., additional, Herbay, Axel von, additional, Wollina, Uwe, additional, Schuelke, Markus, additional, Huizenga, Carin R., additional, Leistritz, Dru F., additional, Martin, George M., additional, Mian, I. Saira, additional, and Oshima, Junko, additional
- Published
- 2006
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32. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
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Hanks, Sandra, primary, Coleman, Kim, additional, Reid, Sarah, additional, Plaja, Alberto, additional, Firth, Helen, additional, FitzPatrick, David, additional, Kidd, Alexa, additional, Méhes, Károly, additional, Nash, Richard, additional, Robin, Nathanial, additional, Shannon, Nora, additional, Tolmie, John, additional, Swansbury, John, additional, Irrthum, Alexandre, additional, Douglas, Jenny, additional, and Rahman, Nazneen, additional
- Published
- 2004
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33. Residual Ataxia Telangiectasia Mutated Protein Function in Cells from Ataxia Telangiectasia Patients, with 5762ins137 and 7271T→G Mutations, Showing a Less Severe Phenotype
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Stewart, Grant S., primary, Last, James I.K., additional, Stankovic, Tatjara, additional, Haites, Neva, additional, Kidd, Alexa M.J., additional, Byrd, Philip J., additional, and Taylor, A. Malcolm R., additional
- Published
- 2001
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34. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
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Johnson, Nichola, Maguire, Sarah, Morra, Anna, Kapoor, Pooja Middha, Tomczyk, Katarzyna, Jones, Michael E., Schoemaker, Minouk J., Gilham, Clare, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baynes, Caroline, Freeman, Laura E. Beane, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dörk, Thilo, Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., Hooning, Maartje J., Hopper, John L., Howell, Anthony, Hunter, David J., Jager, Agnes, Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Linet, Martha, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mavroudis, Dimitrios, Mayes, Rebecca, Meindl, Alfons, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Nielsen, Sune F., Nordestgaard, Børge G., Obi, Nadia, Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Orban, Ester, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Rennert, Hedy S., Ruddy, Kathryn J., Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Scott, Christopher, Shu, Xiao-Ou, Simard, Jacques, Smichkoska, Snezhana, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., Van Veen, Elke M., Wang, Sophia S., Weinberg, Clarice R., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Howie, A. Forbes, Peto, Julian, Dos-Santos-Silva, Isabel, Swerdlow, Anthony J., Chang-Claude, Jenny, Schmidt, Marjanka K., Orr, Nick, Fletcher, Olivia, Børresen-Dale, Anne-Lise, Alnæs, Grethe I. Grenaker, Sahlberg, Kristine K., Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Bowtell, David D. L., DeFazio, Anna, Webb, Penelope M., Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O’Connell, Shona, O’Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, and Young, Mary Ann
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631/67/68 ,article ,631/67/2324 ,631/67/1347 ,3. Good health - Abstract
Funder: Breast Cancer Now (BCN); doi: https://doi.org/10.13039/100009794, Funder: Cancer Research UK (CRUK); doi: https://doi.org/10.13039/501100000289, Funder: RCUK | Medical Research Council (MRC); doi: https://doi.org/10.13039/501100000265, Funder: U.S. Department of Health & Human Services | National Institutes of Health (NIH), Funder: Wellcome Trust (Wellcome); doi: https://doi.org/10.13039/100004440, Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: "Ideas" Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013)); doi: https://doi.org/10.13039/100011199; Grant(s): HEALTH-F2-2009-223175, HEALTH-F2-2009-223175, Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762, Funder: Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada); doi: https://doi.org/10.13039/501100000024, Funder: Quebec Breast cancer Foundation Genome Quebec, Funder: U.S. Department of Health & Human Services | NIH | U.S. National Library of Medicine (NLM); doi: https://doi.org/10.13039/100000092, Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: "Ideas" Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013)), Funder: European Union’s Horizon 2020, Funder: Deutsche Krebshilfe (German Cancer Aid); doi: https://doi.org/10.13039/501100005972, Funder: BCAST - European Union’s Horizon 2020, Funder: Breast Cancer Now; doi: https://doi.org/10.13039/501100007913, Background: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. Methods: We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry. Results: For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (−49.2%, 95% CI −56.1% to −41.1%, P = 3.1 × 10–18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (−26.7%, 95% CI −39.4% to −11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82–0.91, P = 6.9 × 10–8). Conclusions: The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.
35. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
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Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Lasheras, Sandra Viz, Pujol, Roser, Kiiski, Johanna I., Muranen, Taru A., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K., Leslie, Goska, Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A., Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B., Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E., Beauparlant, Charles Joly, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brady, Angela F., Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campa, Daniele, Campbell, Ian G., Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B. M., Clarke, Christine L., Collavoli, Anita, Conner, Thomas A., Cox, David G., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., De La Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S., Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foulkes, William D., Friebel, Tara M., Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Guénel, Pascal, Gutierrez-Barrera, Angelica M., Haeberle, Lothar, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L., Hosgood, H. Dean, Howell, Anthony, Hu, Chunling, Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y., Khusnutdinova, Elza, Kitahara, Cari M., Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T., Lu, Karen H., Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Newman, William G., Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U., Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A., Ross, Eric A., Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamariña, Marta, Scheuner, Maren T., Schmutzler, Rita K., Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Sohn, Christof, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J., Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L., Tischkowitz, Marc, Tollenaar, Rob A.E.M., Torres, Diana, Troester, Melissa A., Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M., Van Rensburg, Elizabeth J., Van Veen, Elke M., Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Dunning, Alison M., Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T., Pharoah, Paul D. P., Fostira, Florentia, Toland, Amanda E., Andrulis, Irene L., Ramus, Susan J., Swerdlow, Anthony J., Greene, Mark H., Chung, Wendy K., Milne, Roger L., Chenevix-Trench, Georgia, Dörk, Thilo, Schmidt, Marjanka K., Easton, Douglas F., Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C., Couch, Fergus J., Nevanlinna, Heli, Surrallés, Jordi, Peterlongo, Paolo, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C. Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Belotti, Muriel, Bertrand, Ophélie, Birot, Anne-Marie, Buecher, Bruno, Caputo, Sandrine, Dupré, Anaïs, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Le Mentec, Marine, Moncoutier, Virginie, De Pauw, Antoine, Saule, Claire, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Bressac-De-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valérie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Noguès, Catherine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Pujol, Pascal, Adenis, Claude, Dumont, Aurélie, Révillion, Françoise, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Hélène, Leroux, Christine Dominique, Peysselon, Magalie, Rebischung, Christine, Legrand, Clémentine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Jacquot, Caroline, Lizard, Sarab, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Véronique, Vénat-Bouvet, Laurence, Bézieau, Stéphane, Delnatte, Capucine, Mortemousque, Isabelle, Colas, Chrystelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Sokolowska, Johanna, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Aghmesheh, Morteza, Greening, Sian, Amor, David, Gattas, Mike, Botes, Leon, Buckley, Michael, Friedlander, Michael, Koehler, Jessica, Meiser, Bettina, Saleh, Mona, Salisbury, Elizabeth, Trainer, Alison, Tucker, Kathy, Antill, Yoland, Dobrovic, Alexander, Fellows, Andrew, Fox, Stephen, Harris, Marion, Nightingale, Sophie, Phillips, Kelly, Sambrook, Joe, Thorne, Heather, Armitage, Shane, Arnold, Leanne, Kefford, Rick, Kirk, Judy, Rickard, Edwina, Bastick, Patti, Beesley, Jonathan, Hayward, Nick, Spurdle, Amanda, Walker, Logan, Beilby, John, Saunders, Christobel, Bennett, Ian, Blackburn, Anneke, Bogwitz, Michael, Gaff, Clara, Lindeman, Geoff, Pachter, Nick, Scott, Clare, Sexton, Adrienne, Visvader, Jane, Taylor, Jessica, Winship, Ingrid, Brennan, Meagan, Brown, Melissa, French, Juliet, Edwards, Stacey, Burgess, Matthew, Burke, Jo, Patterson, Briony, Butow, Phyllis, Culling, Bronwyn, Caldon, Liz, Callen, David, Chauhan, Deepa, Eisenbruch, Maurice, Heiniger, Louise, Chauhan, Manisha, Christian, Alice, Dixon, Joanne, Kidd, Alexa, Cohen, Paul, Colley, Alison, Fenton, Georgina, Crook, Ashley, Dickson, Rebecca, Field, Michael, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dudding, Tracy, Edkins, Ted, Farshid, Gelareh, Flanagan, James, Fong, Peter, Forrest, Laura, Gallego-Ortega, David, George, Peter, Gill, Grantley, Kollias, James, Haan, Eric, Hart, Stewart, Jenkins, Mark, Hunt, Clare, Lakhani, Sunil, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, O’Connell, Shona, O’Sullivan, Sarah, Pieper, Ellen, Robinson, Bridget, Saunus, Jodi, Scott, Elizabeth, Shelling, Andrew, Williams, Rachael, and Young, Mary Ann
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692/4028/67/68 ,631/67/68 ,article ,nutritional and metabolic diseases ,631/208/68 ,skin and connective tissue diseases ,3. Good health - Abstract
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
36. Ring Chromosome 22 associated with Neurofibromatsosis 2.
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Kidd, Alexa, Brown, A., and Smythe, R.
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NEUROFIBROMATOSIS ,MENINGIOMA ,TUMOR suppressor genes ,CHROMOSOMES - Abstract
Neurefibromatosis II (NFII) is an autosomal dominant trait causing schwannomas and multiple meningiomas. The NFII gene is a tumor suppressor gene and is located on 22q12. There are several repods in the literature of meningiomas occurring in ring 22 but only one previous of a ring 22 chromosome being associated with NFII. We report on a 39-year-old mentally handicapped woman with multiple meningiomas and a right acoustic schwannoma. Her developmental delay was from infancy but she had a period of regression at puberty. She had no family history suggestive of NFII or learning difficulties. Karyotype analysis on lymphocytes showed a ring chromosome 22 in all cells analysed. Fibroblast karyotypic analysis showed the ring in 80% of cells and 20% of the cells had monosomy for chromosome 22. The breakpoints were thought to be at 22p11.2 and 22q13. FISH analysis using the ARSA probe showed that the breakpoint was proximal to 22q13.3. Thus she also has a terminal deletion. There was no evidence of a deletion or point mutation in DNA from blood in mutation analysis of the NFII gene. We will present the clinical history and examination and compare our case's findings with the recently recognised 22q13 terminal deletion syndrome. We will also review reports of ring 22 chromosome and tumors. We suspect that the instability of the ring is the cause of the NFII phenotype in this patient. [ABSTRACT FROM AUTHOR]
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- 2003
37. Blue Rubber Bleb Nevus Syndrome with Central Nervous System involvement.
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Kidd, Alexa, Murdoch, J., Adams, J., and Stanley, T.
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BASAL cell nevus syndrome ,HUMAN abnormalities ,GASTROINTESTINAL system ,CENTRAL nervous system - Abstract
Blue rubber bleb nevus syndrome (BRBNS) is a rare multisystem disorder characterised by distinctive vascular malformations of skin and internal organs especially the gastrointestinal tract. Central nervous system involvement has rarely been reported. BRBNS often occurs sporadically but there is sometimes an autosomal dominant family history. We present a two and a half year old boy of Pitcairn Island ancestry who had several vascular skin lesions present at birth. Some of the lesions appeared to be pigmented rather than vascular initially. The lesions enlarged and other lesions appeared. They now have the typical appearances of BRBNS. He had a febrile seizure aged one year then had further non febrile generalised seizures. His development has been normal apart from mild language delay. He has never had any overt bleeding from the gastrointestinal tract or elsewhere and is otherwise well. There is no relevant family history but his parents are distantly related. He had a normal sleep deprived and awake EEG but a very abnormal MRI scan. The MRI scan showed numerous abnormal veins in the right posterior parietal and occipital region with focal parenchymal loss and gliosis. The appearances were of large venous angiomata suggestive of BRBNS. We present photographs of the skin lesions, the MRI and results of further investigations. We will review the literature on CNS involvement in BRBNS and discuss screening strategies. [ABSTRACT FROM AUTHOR]
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- 2003
38. Genetic testing in New Zealand: the role of the general practitioner.
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Morgan S, McLeod D, Kidd A, and Langford B
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- Attitude of Health Personnel, Clinical Competence, Data Collection, Family Practice education, Health Services Accessibility, Humans, New Zealand, Referral and Consultation, Genetic Testing statistics & numerical data, Physician's Role, Physicians, Family
- Abstract
Aim: The aim of the study commissioned by the National Health Committee (NHC) was to explore the current practice and training needs of general practitioners (GPs) in relation to genetic testing in New Zealand, and to gauge GPs' perceptions of access to genetic services for their patients., Method: A postal survey was sent to a national, random sample of 600 GPs. Responses were received from 328 (56%) of the 586 eligible GPs., Results: Most GPs felt they lacked experience and knowledge of genetic testing, had received little formal training, and many were unsure of how to contact genetic services locally. GPs recognised the importance of their role in genetic testing and requested further information., Conclusions: GPs in New Zealand have an increasingly important role to play in genetic testing. The nature of this role in the new genetics era needs to be carefully considered as will the best way to implement any future educational strategies.
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- 2004
39. De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
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Viprakasit V, Kidd AM, Ayyub H, Horsley S, Hughes J, and Higgs DR
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- Adult, Base Sequence, Child, Chromosome Breakage genetics, Chromosomes, Human, Pair 16 genetics, Down-Regulation, Female, Humans, Male, Telomere genetics, Globins genetics, Sequence Deletion genetics, alpha-Thalassemia genetics
- Abstract
We have identified and characterized a Scottish individual with alpha thalassaemia, resulting from a de novo 48 kilobase (kb) deletion from the telomeric flanking region of the alpha globin cluster which occurred as a result of recombination between two misaligned repetitive elements that normally lie approximately 83 kb and 131 kb from the 16p telomere. The deletion removes two previously described putative regulatory elements (HS-40 and HS-33) but leaves two other elements (HS-10 and HS-8) intact. Analysis of this deletion, together with eight other published deletions of the telomeric region, showed that they all severely downregulated alpha globin expression. Together they defined a 20.4-kb region of the human alpha cluster, which contains all of the positive cis-acting elements required to regulate alpha globin expression. Comparative analysis of this region with the corresponding segment of the mouse alpha globin cluster demonstrated conserved non-coding sequences corresponding to the putative regulatory elements HS-40 and HS-33. Although the role of HS-40 as an enhancer of alpha globin expression is fully established, these observations suggest that the role of HS-33 and other sequences in this region should be more fully investigated in the context of the natural human and mouse alpha globin loci.
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- 2003
- Full Text
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