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2. Applications of quadratic and cubic hypergeometric transformations.

Author

KARLSSON, PER W. and ERNST, THOMAS

Subjects
*QUADRATIC equations, *DIVERGENT series, *INTEGERS, *MULTIPLICATION, *ARGUMENT, *HYPERGEOMETRIC series, *HYPERGEOMETRIC functions
Abstract

The purpose of this paper is to consider five classes of quadratic and cubic hypergeometric transformations in the spirit of Bailey and Whipple. We shall successfully evaluate several hypergeometric functions, of the types 2F1(x), 3F2(x), and 4F3(x), with each function having one or more free parameters, and with the argument x chosen to be equal to such unusual values as x = ±1,-8, 1 4, -1 8, (these four values having been explored initially by Gessel and Stanton). In each case, companion identities and/or inverse transformations are given, which are sometimes proved by a limiting process for a divergent hypergeometric series. Some of the proofs use the Clausen quadratic formula, Euler reflection formula, Legendre duplication, Gauss multiplication formula, Euler transformation, hypergeometric reversion formula and known hypergeometric summation formulas. The proofs in the terminating case are simpler and can lead to mixed summation formulas, which depend on values of a negative integer. Some of the formulas use the Digamma function and a dimension formula is referred to. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Corollaries and multiple extensions of Gessel and Stanton hypergeometric summation formulas

Author

Ernst, Thomas, Karlsson, Per W., Ernst, Thomas, and Karlsson, Per W.

Abstract

We find some new simple hypergeometric formulas in the footsteps of the important article by Gessel and Stanton. These are multiple reduction formulas, multiple summation formulas, as well as multiple transformation formulas for special Kampe de Feriet functions and Appell functions. The hypergeometric summation formulas have special function arguments in Q and parameter values in N or C. The proofs use Pfaff-Kummer transformation, Euler transformation, or an improved form of Slater reversion.

Published
2021
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17. Inductance and hypergeometric functions

Author

Karlsson, Per W.

Subjects
Computational Mathematics, rotationally symmetric currents, Elliptic integrals, Applied Mathematics, Appell functions, Catalan's constant, inductance
Abstract

Vector potential and inductances for simple current distributions with rotational symmetry are considered. The approach is in terms of those hypergeometric functions that yield the simplest expressions, rather than complete elliptic integrals. In particular, an integral for the self-inductance of a solenoid of arbitrary thickness and length is given.

Published
1991
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18. A GENERALIZATION OF BESSEL’S INTEGRAL FOR THE BESSEL COEFFICIENTS

Author

Karlsson, Per W.

Subjects
Bessel functions, General Mathematics, 33C10, Watson's theorem, hypergeometric functions
Abstract

We derive an integral over the $m$-dimensional unit hypercube that generalizes Bessel’s integral for $J_n(x)$. The integrand is $G(x\psi(t)) \exp(−2\pi i n \cdot t)$, where $G$ is analytic, and $\psi(t) = e^{2\pi it_1} + \ldots + e^{2\pi it_m} + e^{−2\pi i(t_1+...+t_m)}$, while n is a set of non-negative integers. In particular, we consider the case when $G$ is a hypergeometric function $_{p}F_q$.

Published
2007
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19. Karlsson, Per W.

Author

Karlsson, Per W. and Karlsson, Per W.

Published
2012

20. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Author

Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew Roger, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per W., Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os, Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet G E M, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Nielsen, Finn C, Gerdes, Anne-Marie, Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew Roger, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per W., Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os, Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet G E M, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Nielsen, Finn C, and Gerdes, Anne-Marie

Abstract

Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2).

Published
2012

21. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Author

Couch, Fergus J, Gaudet, Mia M, Antoniou, Antonis C, Ramus, Susan J, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, Wang, Xianshu, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew Roger, Healey, Sue, Sinilnikova, Olga M, Andrulis, Irene L, Ozcelik, Hilmi, Mulligan, Anna Marie, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe Birk, Skytte, Anne-Bine, Kruse, Torben A, Caligo, Maria A, von Wachenfeldt, Anna, Barbany-Bustinza, Gisela, Loman, Niklas, Soller, Maria, Ehrencrona, Hans, Karlsson, Per W., Nathanson, Katherine L, Rebbeck, Timothy R, Domchek, Susan M, Jakubowska, Ania, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Zlowocka, Elzbieta, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Cybulski, Cezary, Górski, Bohdan, Osorio, Ana, Durán, Mercedes, Tejada, María Isabel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B L, Nielsen, Finn C, Couch, Fergus J, Gaudet, Mia M, Antoniou, Antonis C, Ramus, Susan J, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, Wang, Xianshu, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew Roger, Healey, Sue, Sinilnikova, Olga M, Andrulis, Irene L, Ozcelik, Hilmi, Mulligan, Anna Marie, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe Birk, Skytte, Anne-Bine, Kruse, Torben A, Caligo, Maria A, von Wachenfeldt, Anna, Barbany-Bustinza, Gisela, Loman, Niklas, Soller, Maria, Ehrencrona, Hans, Karlsson, Per W., Nathanson, Katherine L, Rebbeck, Timothy R, Domchek, Susan M, Jakubowska, Ania, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Zlowocka, Elzbieta, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Cybulski, Cezary, Górski, Bohdan, Osorio, Ana, Durán, Mercedes, Tejada, María Isabel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B L, and Nielsen, Finn C

Abstract

Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Published
2012

22. Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew Roger, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne Ej, Wijnen, Juul, Gomez Garcia, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine Ma, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schafer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de Al Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, Barkardottir, Rosa B, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, D'Andrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Timothy R, Olopade, Olufunmilayo I, Weitzel, Jeffrey N, Lynch, Henry T, Ganz, Patricia A, Tomlinson, Gail E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Szabo, Csila, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, Singer, Christian F, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Mai, Phuong L, Greene, Mark H, Imyanitov, Evgeny, O'Malley, Frances P, Ozcelik, Hilmi, Glendon, Gordon, Toland, Amanda E, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A, Birk Jensen, Uffe, Skytte, Anne-Bine, Caligo, Maria A, Soller, Maria, Henriksson, Karin, von Wachenfeldt, Anna, Arver, Brita, Stenmark-Askmalm, Marie, Karlsson, Per W., Ding, Yuan Chun, Neuhausen, Susan L, Beattie, Mary, Pharoah, Paul Dp, Moysich, Kirsten B, Nathanson, Katherine L, Karlan, Beth Y, Gross, Jenny, John, Esther M, Daly, Mary B, Buys, Saundra M, Southey, Melissa C, Hopper, John L, Terry, Mary Beth, Chung, Wendy, Miron, Alexander F, Goldgar, David, Chenevix-Trench, Georgia, Easton, Douglas F, Andrulis, Irene L, Antoniou, Antonis C, Family Registry, Breast Cancer, Embrace, Collaborators, Gemo Study, Hebon, Network, Ontario Cancer Genetics, Swe-Brca, Cimba, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew Roger, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne Ej, Wijnen, Juul, Gomez Garcia, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine Ma, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schafer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de Al Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, Barkardottir, Rosa B, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, D'Andrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Timothy R, Olopade, Olufunmilayo I, Weitzel, Jeffrey N, Lynch, Henry T, Ganz, Patricia A, Tomlinson, Gail E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Szabo, Csila, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, Singer, Christian F, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Mai, Phuong L, Greene, Mark H, Imyanitov, Evgeny, O'Malley, Frances P, Ozcelik, Hilmi, Glendon, Gordon, Toland, Amanda E, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A, Birk Jensen, Uffe, Skytte, Anne-Bine, Caligo, Maria A, Soller, Maria, Henriksson, Karin, von Wachenfeldt, Anna, Arver, Brita, Stenmark-Askmalm, Marie, Karlsson, Per W., Ding, Yuan Chun, Neuhausen, Susan L, Beattie, Mary, Pharoah, Paul Dp, Moysich, Kirsten B, Nathanson, Katherine L, Karlan, Beth Y, Gross, Jenny, John, Esther M, Daly, Mary B, Buys, Saundra M, Southey, Melissa C, Hopper, John L, Terry, Mary Beth, Chung, Wendy, Miron, Alexander F, Goldgar, David, Chenevix-Trench, Georgia, Easton, Douglas F, Andrulis, Irene L, Antoniou, Antonis C, Family Registry, Breast Cancer, Embrace, Collaborators, Gemo Study, Hebon, Network, Ontario Cancer Genetics, Swe-Brca, and Cimba

Abstract

INTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumor. METHODS: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumor, to assess the associations of twelve loci with breast cancer tumor characteristics. Associations were evaluated using a retrospective cohort approach. RESULTS: The results suggested stronger associations with ER-positive breast cancer than ER-negative for eleven loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, SNP rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele HR for ER-positive=1.35, 95%CI:1.17-1.56 vs HR=0.91, 95%CI:0.85-0.98 for ER-negative, P-heterogeneity=6.5e-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. CONCLUSIONS: The associations of the twelve SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumor subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation car

Published
2011

23. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Author

Ramus, Susan J, Kartsonaki, Christiana, Gayther, Simon A, Pharoah, Paul D P, Sinilnikova, Olga M, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H, Mai, Phuong L, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per W., Stenmark Askmalm, Marie, Borg, Ake, Neuhausen, Susan L, Ding, Yuan Chun, Nathanson, Katherine L, Domchek, Susan M, Hansen, Thomas v O, Jønson, Lars, Ejlertsen, Bent, Ramus, Susan J, Kartsonaki, Christiana, Gayther, Simon A, Pharoah, Paul D P, Sinilnikova, Olga M, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H, Mai, Phuong L, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per W., Stenmark Askmalm, Marie, Borg, Ake, Neuhausen, Susan L, Ding, Yuan Chun, Nathanson, Katherine L, Domchek, Susan M, Hansen, Thomas v O, Jønson, Lars, and Ejlertsen, Bent

Abstract

Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2.

Published
2011

24. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Author

Cox, David G, Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H, Mai, Phuong L, Andrulis, Irene L, Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A, Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S, Borg, Åke, Karlsson, Per W., Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Benítez, Javier, Hamann, Ute, Rookus, Matti A, van den Ouweland, Ans M W, Ausems, Margreet G E M, Aalfs, Cora M, van Asperen, Christi J, Devilee, Peter, Gille, Hans J J P, Peock, Susan, Frost, Debra, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K, Remon, Marie-Alice, Moncoutier, Virginie, Gauthier-Villars, Marion, Lasset, Christine, Cox, David G, Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H, Mai, Phuong L, Andrulis, Irene L, Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A, Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S, Borg, Åke, Karlsson, Per W., Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Benítez, Javier, Hamann, Ute, Rookus, Matti A, van den Ouweland, Ans M W, Ausems, Margreet G E M, Aalfs, Cora M, van Asperen, Christi J, Devilee, Peter, Gille, Hans J J P, Peock, Susan, Frost, Debra, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K, Remon, Marie-Alice, Moncoutier, Virginie, Gauthier-Villars, Marion, and Lasset, Christine

Abstract

Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations. A total of 9874 BRCA1 mutation carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003). Promoter in vitro assays of the major BRCA1 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription.

Published
2011

35. Hypergeometric Functions with Integral Parameter Differences

Author

Karlsson, Per W. and Karlsson, Per W.

Abstract

For a generalized hypergeometric function pFq(z) with positive integral differences between certain numerator and denominator parameters, a formula expressing the pFq(z) as a finite sum of lower-order functions is proved. From this formula, Minton's two summation theorems for p = q + 1, z = 1 are deduced, one of these under less restrictive conditions than assumed by Minton. ©1971 The American Institute of Physics

Published
1971

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