6 results on '"Yechezkel, Galit Hirsh"'
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2. Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation
- Author
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Robertson, Lindsay B., Armstrong, Georgina N., Olver, Bianca D., Lloyd, Amy L., Shete, Sanjay, Lau, Ching, Claus, Elizabeth B., Barnholtz-Sloan, Jill, Lai, Rose, Ilʼyasova, Dora, Schildkraut, Joellen, Bernstein, Jonine L., Olson, Sara H., Jenkins, Robert B., Yang, Ping, Rynerason, Amanda L., Wrensch, Margaret, McCoy, Lucie, Wienkce, John K., McCarthy, Bridget, Davis, Faith, Vick, Nicholas A., Johansen, Christoffer, Bødtcher, Hanne, Sadetzki, Siegal, Bruchim, Revital Bar-Sade, Yechezkel, Galit Hirsh, Andersson, Ulrika, Melin, Beatrice S., Bondy, Melissa L., and Houlston, Richard S.
- Published
- 2010
- Full Text
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3. Erratum to: Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation
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Robertson, Lindsay B., Armstrong, Georgina N., Olver, Bianca D., Lloyd, Amy L., Shete, Sanjay, Lau, Ching, Claus, Elizabeth B., Barnholtz-Sloan, Jill, Lai, Rose, Il’yasova, Dora, Schildkraut, Joellen, Bernstein, Jonine L., Olson, Sara H., Jenkins, Robert B., Yang, Ping, Rynearson, Amanda Lynn, Wrensch, Margaret, McCoy, Lucie, Wienkce, John K., McCarthy, Bridget, Davis, Faith, Vick, Nicholas A., Johansen, Christoffer, Bødtcher, Hanne, Sadetzki, Siegal, Bruchim, Revital Bar-Sade, Yechezkel, Galit Hirsh, Andersson, Ulrika, Melin, Beatrice S., Bondy, Melissa L., and Houlston, Richard S.
- Published
- 2010
- Full Text
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4. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer
- Author
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Andersson, Ulrika, Wibom, Carl, Cederquist, Kristina, Aradottir, Steina, Borg, Åke, Armstrong, Georgina N., Shete, Sanjay, Lau, Ching C., Bainbridge, Matthew N., Claus, Elizabeth B., Barnholtz-Sloan, Jill, Lai, Rose, Il'yasova, Dora, Houlston, Richard S., Schildkraut, Joellen, Bernstein, Jonine L., Olson, Sara H., Jenkins, Robert B., Lachance, Daniel H., Wrensch, Margaret, Davis, Faith G., Merrell, Ryan, Johansen, Christoffer, Sadetzki, Siegal, Bondy, Melissa L., Melin, Beatrice S., Adatto, Phyllis, Morice, Fabian, Payen, Sam, McQuinn, Lacey, McGaha, Rebecca, Guerra, Sandra, Paith, Leslie, Roth, Katherine, Zeng, Dong, Zhang, Hui, Yung, Alfred, Aldape, Kenneth, Gilbert, Mark, Weinberger, Jeffrey, Colman, Howard, Conrad, Charles, de Groot, John, Forman, Arthur, Groves, Morris, Levin, Victor, Loghin, Monica, Puduvalli, Vinay, Sawaya, Raymond, Heimberger, Amy, Lang, Frederick, Levine, Nicholas, Tolentino, Lori, Saunders, Kate, Thach, Thu-Trang, Iacono, Donna Dello, Sloan, Andrew, Gerson, Stanton, Selman, Warren, Bambakidis, Nicholas, Hart, David, Miller, Jonathan, Hoffer, Alan, Cohen, Mark, Rogers, Lisa, Nock, Charles J, Wolinsky, Yingli, Devine, Karen, Fulop, Jordonna, Barrett, Wendi, Shimmel, Kristen, Ostrom, Quinn, Barnett, Gene, Rosenfeld, Steven, Vogelbaum, Michael, Weil, Robert, Ahluwalia, Manmeet, Peereboom, David, Staugaitis, Susan, Schilero, Cathy, Brewer, Cathy, Smolenski, Kathy, McGraw, Mary, Naska, Theresa, Ram, Zvi, Blumenthal, Deborah T., Bokstein, Felix, Umansky, Felix, Zaaroor, Menashe, Cohen, Avi, Tzuk-Shina, Tzeela, Voldby, Bo, Laursen, René, Andersen, Claus, Brennum, Jannick, Henriksen, Matilde Bille, Marzouk, Maya, Davis, Mary Elizabeth, Boland, Eamon, Smith, Marcel, Eze, Ogechukwu, Way, Mahalia, Lada, Pat, Miedzianowski, Nancy, Frechette, Michelle, Paleologos, Nina, Byström, Gudrun, Svedberg, Eva, Huggert, Sara, Kimdal, Mikael, Sandström, Monica, Brännström, Nikolina, Hayat, Amina, Tihan, Tarik, Zheng, Shichun, Berger, Mitchel, Butowski, Nicholas, Chang, Susan, Clarke, Jennifer, Prados, Michael, Rice, Terri, Sison, Jeannette, Kivett, Valerie, Duo, Xiaoqin, Hansen, Helen, Hsuang, George, Lamela, Rosito, Ramos, Christian, Patoka, Joe, Wagenman, Katherine, Zhou, Mi, Klein, Adam, McGee, Nora, Pfefferle, Jon, Wilson, Callie, Morris, Pagan, Hughes, Mary, Britt-Williams, Marlin, Foft, Jessica, Madsen, Julia, Polony, Csaba, McCarthy, Bridget, Zahora, Candice, Villano, John, Engelhard, Herbert, Borg, Ake, Chanock, Stephen K, Collins, Peter, Elston, Robert, Kleihues, Paul, Kruchko, Carol, Petersen, Gloria, Plon, Sharon, Thompson, Patricia, Johansen, C., Sadetzki, S., Melin, B., Scheurer, Michael E., Liu, Yanhong, Yu, Robert K., Aldape, Kenneth D., Gilbert, Mark R., Weinberg, Jeffrey, Hosking, Fay J., Robertson, Lindsay, Papaemmanuil, Elli, Sloan, Andrew E., McKean-Cowdin, Roberta, Yechezkel, Galit Hirsh, Bruchim, Revital Bar-Sade, Aslanov, Lili, Kosteljanetz, Michael, Broholm, Helle, Schubert, Erica, DeAngelis, Lisa, Yang, Ping, Rynearson, Amanda, Henriksson, Roger, Lada, Patricia, Wiencke, John, Wiemels, Joe, McCoy, Lucie, and McCarthy, Bridget J.
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Male ,Cancer Research ,Neurologi ,Colorectal cancer ,Bioinformatics ,Germline ,0302 clinical medicine ,glioma ,Medicine ,TP53 ,Family history ,Melanoma ,family history ,0303 health sciences ,Brain Neoplasms ,MLH1 ,Nuclear Proteins ,CDKN2A/B ,Middle Aged ,Pedigree ,3. Good health ,MutS Homolog 2 Protein ,Neurology ,Oncology ,Child, Preschool ,030220 oncology & carcinogenesis ,Basic and Translational Investigations ,Colonic Neoplasms ,Female ,MutL Protein Homolog 1 ,Adult ,Breast Neoplasms ,Young Adult ,03 medical and health sciences ,Germline mutation ,Breast cancer ,Glioma ,Humans ,Genetic Predisposition to Disease ,neoplasms ,Cyclin-Dependent Kinase Inhibitor p16 ,Germ-Line Mutation ,Adaptor Proteins, Signal Transducing ,Cyclin-Dependent Kinase Inhibitor p15 ,030304 developmental biology ,Cancer och onkologi ,business.industry ,Cancer ,medicine.disease ,MSH2 ,nervous system diseases ,Checkpoint Kinase 2 ,Cancer and Oncology ,Cancer research ,Neurology (clinical) ,Tumor Suppressor Protein p53 ,business - Abstract
Background: Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers. Methods: Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer. The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma. Results: We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer. Conclusions: Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes. Meeting Abstract: P04.02 published in the same journal, Vol. 16, Suppl. 2.
- Published
- 2014
5. Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation
- Author
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Robertson, Lindsay B, Armstrong, Georgina N, Olver, Bianca D, Lloyd, Amy L, Shete, Sanjay, Lau, Ching, Claus, Elizabeth B, Barnholtz-Sloan, Jill, Lai, Rose, Il'yasova, Dora, Schildkraut, Joellen, Bernstein, Jonine L, Olson, Sara H, Jenkins, Robert B, Yang, Ping, Rynearson, Amanda Lynn, Wrensch, Margaret, McCoy, Lucie, Wienkce, John K, McCarthy, Bridget, Davis, Faith, Vick, Nicholas A, Johansen, Christoffer, Bødtcher, Hanne, Sadetzki, Siegal, Bruchim, Revital Bar-Sade, Yechezkel, Galit Hirsh, Andersson, Ulrika, Melin, Beatrice, Bondy, Melissa L, Houlston, Richard S, Robertson, Lindsay B, Armstrong, Georgina N, Olver, Bianca D, Lloyd, Amy L, Shete, Sanjay, Lau, Ching, Claus, Elizabeth B, Barnholtz-Sloan, Jill, Lai, Rose, Il'yasova, Dora, Schildkraut, Joellen, Bernstein, Jonine L, Olson, Sara H, Jenkins, Robert B, Yang, Ping, Rynearson, Amanda Lynn, Wrensch, Margaret, McCoy, Lucie, Wienkce, John K, McCarthy, Bridget, Davis, Faith, Vick, Nicholas A, Johansen, Christoffer, Bødtcher, Hanne, Sadetzki, Siegal, Bruchim, Revital Bar-Sade, Yechezkel, Galit Hirsh, Andersson, Ulrika, Melin, Beatrice, Bondy, Melissa L, and Houlston, Richard S
- Abstract
There is increasing recognition of familial propensity to glioma as a distinct clinical entity beyond a few rare syndromes; however its genetic basis is poorly understood. The role of p16(INK4A)/p14(ARF) and p53 mutations in sporadic glioma provides a strong rationale for investigating germline mutations in these genes as a cause of familial glioma. To survey the familial glioma phenotype and examine the contribution of germline mutation in p16(INK4A)/p14(ARF) and p53 to the disease we have analyzed a series of 101 index familial cases collected through the GLIOGENE Consortium (http://braintumor.epigenetic.org/). There was little evidence for within family correlations for tumour histology, suggesting generic susceptibility to glial tumors. We did not detect any functional mutations in p16(INK4A) or p14(ARF). One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. Our findings provide no evidence that p16(INK4A)/p14(ARF) and p53 mutations contribute significantly to familial glioma.
- Published
- 2010
- Full Text
- View/download PDF
6. p53 and WAF1 polymorphisms in Jewish‐Israeli women with epithelial ovarian cancer and its association with BRCA mutations
- Author
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Yair, Daniel, primary, Ben Baruch, Gilad, additional, Chetrit, Angela, additional, Friedman, Tal, additional, Yechezkel, Galit Hirsh, additional, Gotlieb, Walter H., additional, Fishman, Amiram, additional, Belter, Uzi, additional, Bar‐Am, Amiram, additional, and Friedman, Eitan, additional
- Published
- 2000
- Full Text
- View/download PDF
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