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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. / Meeks, Huong D; Song, Honglin; Michailidou, Kyriaki; Bolla, Manjeet K; Dennis, Joe; Wang, Qin; Barrowdale, Daniel; Frost, Debra; McGuffog, Lesley; Ellis, Steve; Feng, Bingjian; Buys, Saundra S; Hopper, John L; Southey, Melissa C; Tesoriero, Andrea; James, Paul A; Bruinsma, Fiona; Campbell, Ian G; Broeks, Annegien; Schmidt, Marjanka K; Hogervorst, Frans B L; Beckman, Matthias W; Fasching, Peter A; Fletcher, Olivia; Johnson, Nichola; Sawyer, Elinor J; Riboli, Elio; Banerjee, Susana; Menon, Usha; Tomlinson, Ian; Burwinkel, Barbara; Hamann, Ute; Marme, Frederik; Rudolph, Anja; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Garber, Judy; Cramer, Daniel; Terry, Kathryn L; Poole, Elizabeth M; Tworoger, Shelley S; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Godwin, Andrew K; Guénel, Pascal; Truong, Thérèse; Stoppa-Lyonnet, Dominique; Damiola, Francesca; Mazoyer, Sylvie; Sinilnikova, Olga M; Isaacs, Claudine; Maugard, Christine; Bojesen, Stig E; Flyger, Henrik; Gerdes, Anne-Marie; Hansen, Thomas V O; Jensen, Allen; Kjaer, Susanne K; Hogdall, Claus; Hogdall, Estrid; Pedersen, Inge Sokilde; Thomassen, Mads; Benitez, Javier; González-Neira, Anna; Osorio, Ana; Hoya, Miguel de la; Segura, Pedro Perez; Diez, Orland; Lazaro, Conxi; Brunet, Joan; Anton-Culver, Hoda; Eunjung, Lee; John, Esther M; Neuhausen, Susan L; Ding, Yuan Chun; Castillo, Danielle; Weitzel, Jeffrey N; Ganz, Patricia A; Nussbaum, Robert L; Chan, Salina B; Karlan, Beth Y; Lester, Jenny; Wu, Anna; Gayther, Simon; Ramus, Susan J; Sieh, Weiva; Whittermore, Alice S; Monteiro, Alvaro N A; Phelan, Catherine M; Terry, Mary Beth; Piedmonte, Marion; Offit, Kenneth; Robson, Mark; Levine, Douglas; Moysich, Kirsten B; Cannioto, Rikki; Olson, Sara H; Daly, Mary B; Nathanson, Katherine L; Domchek, Susan M; Lu, Karen H; Liang, Dong; Hildebrant, Michelle A T; Ness, Roberta; Modugno, Francesmary; Pearce, Leigh; Goodman, Marc T; Thompson, Pamela J; Brenner, Hermann; Butterbach, Katja; Meindl, Alfons; Hahnen, Eric; Wappenschmidt, Barbara; Brauch, Hiltrud; Brüning, Thomas; Blomqvist, Carl; Khan, Sofia; Nevanlinna, Heli; Pelttari, Liisa M; Aittomäki, Kristiina; Butzow, Ralf; Bogdanova, Natalia V; Dörk, Thilo; Lindblom, Annika; Margolin, Sara; Rantala, Johanna; Kosma, Veli-Matti; Mannermaa, Arto; Lambrechts, Diether; Neven, Patrick; Claes, Kathleen B M; Maerken, Tom Van; Chang-Claude, Jenny; Flesch-Janys, Dieter; Heitz, Florian; Varon-Mateeva, Raymonda; Peterlongo, Paolo; Radice, Paolo; Viel, Alessandra; Barile, Monica; Peissel, Bernard; Manoukian, Siranoush; Montagna, Marco; Oliani, Cristina; Peixoto, Ana; Teixeira, Manuel R; Collavoli, Anita; Hallberg, Emily; Olson, Janet E; Goode, Ellen L; Hart, Steven N; Shimelis, Hermela; Cunningham, Julie M; Giles, Graham G; Milne, Roger L; Healey, Sue; Tucker, Kathy; Haiman, Christopher A; Henderson, Brian E; Goldberg, Mark S; Tischkowitz, Marc; Simard, Jacques; Soucy, Penny; Eccles, Diana M; Le, Nhu; Borresen-Dale, Anne-Lise; Kristensen, Vessela; Salvesen, Helga B; Bjorge, Line; Bandera, Elisa V; Risch, Harvey; Zheng, Wei; Beeghly-Fadiel, Alicia; Cai, Hui; Pylkäs, Katri; Tollenaar, Robert A E M; Ouweland, Ans M W van der; Andrulis, Irene L; Knight, Julia A; Narod, Steven; Devilee, Peter; Winqvist, Robert; Figueroa, Jonine; Greene, Mark H; Mai, Phuong L; Loud, Jennifer T; García-Closas, Montserrat; Schoemaker, Minouk J; Czene, Kamila; Darabi, Hatef; McNeish, Iain; Siddiquil, Nadeem; Glasspool, Rosalind; Kwong, Ava; Park, Sue K; Teo, Soo Hwang; Yoon, Sook-Yee; Matsuo, Keitaro; Hosono, Satoyo; Woo, Yin Ling; Gao, Yu-Tang; Foretova, Lenka; Singer, Christian F; Rappaport-Feurhauser, Christine; Friedman, Eitan; Laitman, Yael; Rennert, Gad; Imyanitov, Evgeny N; Hulick, Peter J; Olopade, Olufunmilayo I; Senter, Leigha; Olah, Edith; Doherty, Jennifer A; Schildkraut, Joellen; Koppert, Linetta B; Kiemeney, Lambertus A; Massuger, Leon F A G; Cook, Linda S; Pejovic, Tanja; Li, Jingmei; Borg, Ake; Öfverholm, Anna; Rossing, Mary Anne; Wentzensen, Nicolas; Henriksson, Karin; Cox, Angela; Cross, Simon S; Pasini, Barbara J; Shah, Mitul; Kabisch, Maria; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Gronwald, Jacek; Agnarsson, Bjarni A; Kupryjanczyk, Jolanta; Moes-Sosnowska, Joanna; Fostira, Florentia; Konstantopoulou, Irene; Slager, Susan; Jones, Michael; Antoniou, Antonis C; Berchuck, Andrew; Swerdlow, Anthony; Chenevix-Trench, Georgia; Dunning, Alison M; Pharoah, Paul D P; Hall, Per; Easton, Douglas F; Couch, Fergus J; Spurdle, Amanda B; Goldgar, David E; EMBRACE.

in: JNCI-J NATL CANCER I, Jahrgang 108, Nr. 2, 02.2016, S. djv315.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Meeks, HD, Song, H, Michailidou, K, Bolla, MK, Dennis, J, Wang, Q, Barrowdale, D, Frost, D, McGuffog, L, Ellis, S, Feng, B, Buys, SS, Hopper, JL, Southey, MC, Tesoriero, A, James, PA, Bruinsma, F, Campbell, IG, Broeks, A, Schmidt, MK, Hogervorst, FBL, Beckman, MW, Fasching, PA, Fletcher, O, Johnson, N, Sawyer, EJ, Riboli, E, Banerjee, S, Menon, U, Tomlinson, I, Burwinkel, B, Hamann, U, Marme, F, Rudolph, A, Janavicius, R, Tihomirova, L, Tung, N, Garber, J, Cramer, D, Terry, KL, Poole, EM, Tworoger, SS, Dorfling, CM, van Rensburg, EJ, Godwin, AK, Guénel, P, Truong, T, Stoppa-Lyonnet, D, Damiola, F, Mazoyer, S, Sinilnikova, OM, Isaacs, C, Maugard, C, Bojesen, SE, Flyger, H, Gerdes, A-M, Hansen, TVO, Jensen, A, Kjaer, SK, Hogdall, C, Hogdall, E, Pedersen, IS, Thomassen, M, Benitez, J, González-Neira, A, Osorio, A, Hoya, MDL, Segura, PP, Diez, O, Lazaro, C, Brunet, J, Anton-Culver, H, Eunjung, L, John, EM, Neuhausen, SL, Ding, YC, Castillo, D, Weitzel, JN, Ganz, PA, Nussbaum, RL, Chan, SB, Karlan, BY, Lester, J, Wu, A, Gayther, S, Ramus, SJ, Sieh, W, Whittermore, AS, Monteiro, ANA, Phelan, CM, Terry, MB, Piedmonte, M, Offit, K, Robson, M, Levine, D, Moysich, KB, Cannioto, R, Olson, SH, Daly, MB, Nathanson, KL, Domchek, SM, Lu, KH, Liang, D, Hildebrant, MAT, Ness, R, Modugno, F, Pearce, L, Goodman, MT, Thompson, PJ, Brenner, H, Butterbach, K, Meindl, A, Hahnen, E, Wappenschmidt, B, Brauch, H, Brüning, T, Blomqvist, C, Khan, S, Nevanlinna, H, Pelttari, LM, Aittomäki, K, Butzow, R, Bogdanova, NV, Dörk, T, Lindblom, A, Margolin, S, Rantala, J, Kosma, V-M, Mannermaa, A, Lambrechts, D, Neven, P, Claes, KBM, Maerken, TV, Chang-Claude, J, Flesch-Janys, D, Heitz, F, Varon-Mateeva, R, Peterlongo, P, Radice, P, Viel, A, Barile, M, Peissel, B, Manoukian, S, Montagna, M, Oliani, C, Peixoto, A, Teixeira, MR, Collavoli, A, Hallberg, E, Olson, JE, Goode, EL, Hart, SN, Shimelis, H, Cunningham, JM, Giles, GG, Milne, RL, Healey, S, Tucker, K, Haiman, CA, Henderson, BE, Goldberg, MS, Tischkowitz, M, Simard, J, Soucy, P, Eccles, DM, Le, N, Borresen-Dale, A-L, Kristensen, V, Salvesen, HB, Bjorge, L, Bandera, EV, Risch, H, Zheng, W, Beeghly-Fadiel, A, Cai, H, Pylkäs, K, Tollenaar, RAEM, Ouweland, AMWVD, Andrulis, IL, Knight, JA, Narod, S, Devilee, P, Winqvist, R, Figueroa, J, Greene, MH, Mai, PL, Loud, JT, García-Closas, M, Schoemaker, MJ, Czene, K, Darabi, H, McNeish, I, Siddiquil, N, Glasspool, R, Kwong, A, Park, SK, Teo, SH, Yoon, S-Y, Matsuo, K, Hosono, S, Woo, YL, Gao, Y-T, Foretova, L, Singer, CF, Rappaport-Feurhauser, C, Friedman, E, Laitman, Y, Rennert, G, Imyanitov, EN, Hulick, PJ, Olopade, OI, Senter, L, Olah, E, Doherty, JA, Schildkraut, J, Koppert, LB, Kiemeney, LA, Massuger, LFAG, Cook, LS, Pejovic, T, Li, J, Borg, A, Öfverholm, A, Rossing, MA, Wentzensen, N, Henriksson, K, Cox, A, Cross, SS, Pasini, BJ, Shah, M, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Gronwald, J, Agnarsson, BA, Kupryjanczyk, J, Moes-Sosnowska, J, Fostira, F, Konstantopoulou, I, Slager, S, Jones, M, Antoniou, AC, Berchuck, A, Swerdlow, A, Chenevix-Trench, G, Dunning, AM, Pharoah, PDP, Hall, P, Easton, DF, Couch, FJ, Spurdle, AB, Goldgar, DE & EMBRACE 2016, 'BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers', JNCI-J NATL CANCER I, Jg. 108, Nr. 2, S. djv315. https://doi.org/10.1093/jnci/djv315

APA

Meeks, H. D., Song, H., Michailidou, K., Bolla, M. K., Dennis, J., Wang, Q., Barrowdale, D., Frost, D., McGuffog, L., Ellis, S., Feng, B., Buys, S. S., Hopper, J. L., Southey, M. C., Tesoriero, A., James, P. A., Bruinsma, F., Campbell, I. G., Broeks, A., ... EMBRACE (2016). BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. JNCI-J NATL CANCER I, 108(2), djv315. https://doi.org/10.1093/jnci/djv315

Vancouver

Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q et al. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. JNCI-J NATL CANCER I. 2016 Feb;108(2):djv315. https://doi.org/10.1093/jnci/djv315

Bibtex

@article{a48de176045248eb97f868ed493e9f8d,
title = "BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers",
abstract = "BACKGROUND: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers.METHODS: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided.RESULTS: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10(-5) and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10(-5), respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed.CONCLUSIONS: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations.",
author = "Meeks, {Huong D} and Honglin Song and Kyriaki Michailidou and Bolla, {Manjeet K} and Joe Dennis and Qin Wang and Daniel Barrowdale and Debra Frost and Lesley McGuffog and Steve Ellis and Bingjian Feng and Buys, {Saundra S} and Hopper, {John L} and Southey, {Melissa C} and Andrea Tesoriero and James, {Paul A} and Fiona Bruinsma and Campbell, {Ian G} and Annegien Broeks and Schmidt, {Marjanka K} and Hogervorst, {Frans B L} and Beckman, {Matthias W} and Fasching, {Peter A} and Olivia Fletcher and Nichola Johnson and Sawyer, {Elinor J} and Elio Riboli and Susana Banerjee and Usha Menon and Ian Tomlinson and Barbara Burwinkel and Ute Hamann and Frederik Marme and Anja Rudolph and Ramunas Janavicius and Laima Tihomirova and Nadine Tung and Judy Garber and Daniel Cramer and Terry, {Kathryn L} and Poole, {Elizabeth M} and Tworoger, {Shelley S} and Dorfling, {Cecilia M} and {van Rensburg}, {Elizabeth J} and Godwin, {Andrew K} and Pascal Gu{\'e}nel and Th{\'e}r{\`e}se Truong and Dominique Stoppa-Lyonnet and Francesca Damiola and Sylvie Mazoyer and Sinilnikova, {Olga M} and Claudine Isaacs and Christine Maugard and Bojesen, {Stig E} and Henrik Flyger and Anne-Marie Gerdes and Hansen, {Thomas V O} and Allen Jensen and Kjaer, {Susanne K} and Claus Hogdall and Estrid Hogdall and Pedersen, {Inge Sokilde} and Mads Thomassen and Javier Benitez and Anna Gonz{\'a}lez-Neira and Ana Osorio and Hoya, {Miguel de la} and Segura, {Pedro Perez} and Orland Diez and Conxi Lazaro and Joan Brunet and Hoda Anton-Culver and Lee Eunjung and John, {Esther M} and Neuhausen, {Susan L} and Ding, {Yuan Chun} and Danielle Castillo and Weitzel, {Jeffrey N} and Ganz, {Patricia A} and Nussbaum, {Robert L} and Chan, {Salina B} and Karlan, {Beth Y} and Jenny Lester and Anna Wu and Simon Gayther and Ramus, {Susan J} and Weiva Sieh and Whittermore, {Alice S} and Monteiro, {Alvaro N A} and Phelan, {Catherine M} and Terry, {Mary Beth} and Marion Piedmonte and Kenneth Offit and Mark Robson and Douglas Levine and Moysich, {Kirsten B} and Rikki Cannioto and Olson, {Sara H} and Daly, {Mary B} and Nathanson, {Katherine L} and Domchek, {Susan M} and Lu, {Karen H} and Dong Liang and Hildebrant, {Michelle A T} and Roberta Ness and Francesmary Modugno and Leigh Pearce and Goodman, {Marc T} and Thompson, {Pamela J} and Hermann Brenner and Katja Butterbach and Alfons Meindl and Eric Hahnen and Barbara Wappenschmidt and Hiltrud Brauch and Thomas Br{\"u}ning and Carl Blomqvist and Sofia Khan and Heli Nevanlinna and Pelttari, {Liisa M} and Kristiina Aittom{\"a}ki and Ralf Butzow and Bogdanova, {Natalia V} and Thilo D{\"o}rk and Annika Lindblom and Sara Margolin and Johanna Rantala and Veli-Matti Kosma and Arto Mannermaa and Diether Lambrechts and Patrick Neven and Claes, {Kathleen B M} and Maerken, {Tom Van} and Jenny Chang-Claude and Dieter Flesch-Janys and Florian Heitz and Raymonda Varon-Mateeva and Paolo Peterlongo and Paolo Radice and Alessandra Viel and Monica Barile and Bernard Peissel and Siranoush Manoukian and Marco Montagna and Cristina Oliani and Ana Peixoto and Teixeira, {Manuel R} and Anita Collavoli and Emily Hallberg and Olson, {Janet E} and Goode, {Ellen L} and Hart, {Steven N} and Hermela Shimelis and Cunningham, {Julie M} and Giles, {Graham G} and Milne, {Roger L} and Sue Healey and Kathy Tucker and Haiman, {Christopher A} and Henderson, {Brian E} and Goldberg, {Mark S} and Marc Tischkowitz and Jacques Simard and Penny Soucy and Eccles, {Diana M} and Nhu Le and Anne-Lise Borresen-Dale and Vessela Kristensen and Salvesen, {Helga B} and Line Bjorge and Bandera, {Elisa V} and Harvey Risch and Wei Zheng and Alicia Beeghly-Fadiel and Hui Cai and Katri Pylk{\"a}s and Tollenaar, {Robert A E M} and Ouweland, {Ans M W van der} and Andrulis, {Irene L} and Knight, {Julia A} and Steven Narod and Peter Devilee and Robert Winqvist and Jonine Figueroa and Greene, {Mark H} and Mai, {Phuong L} and Loud, {Jennifer T} and Montserrat Garc{\'i}a-Closas and Schoemaker, {Minouk J} and Kamila Czene and Hatef Darabi and Iain McNeish and Nadeem Siddiquil and Rosalind Glasspool and Ava Kwong and Park, {Sue K} and Teo, {Soo Hwang} and Sook-Yee Yoon and Keitaro Matsuo and Satoyo Hosono and Woo, {Yin Ling} and Yu-Tang Gao and Lenka Foretova and Singer, {Christian F} and Christine Rappaport-Feurhauser and Eitan Friedman and Yael Laitman and Gad Rennert and Imyanitov, {Evgeny N} and Hulick, {Peter J} and Olopade, {Olufunmilayo I} and Leigha Senter and Edith Olah and Doherty, {Jennifer A} and Joellen Schildkraut and Koppert, {Linetta B} and Kiemeney, {Lambertus A} and Massuger, {Leon F A G} and Cook, {Linda S} and Tanja Pejovic and Jingmei Li and Ake Borg and Anna {\"O}fverholm and Rossing, {Mary Anne} and Nicolas Wentzensen and Karin Henriksson and Angela Cox and Cross, {Simon S} and Pasini, {Barbara J} and Mitul Shah and Maria Kabisch and Diana Torres and Anna Jakubowska and Jan Lubinski and Jacek Gronwald and Agnarsson, {Bjarni A} and Jolanta Kupryjanczyk and Joanna Moes-Sosnowska and Florentia Fostira and Irene Konstantopoulou and Susan Slager and Michael Jones and Antoniou, {Antonis C} and Andrew Berchuck and Anthony Swerdlow and Georgia Chenevix-Trench and Dunning, {Alison M} and Pharoah, {Paul D P} and Per Hall and Easton, {Douglas F} and Couch, {Fergus J} and Spurdle, {Amanda B} and Goldgar, {David E} and {EMBRACE Collaborators}",
note = "{\textcopyright} The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.",
year = "2016",
month = feb,
doi = "10.1093/jnci/djv315",
language = "English",
volume = "108",
pages = "djv315",
journal = "JNCI-J NATL CANCER I",
issn = "0027-8874",
publisher = "Oxford University Press",
number = "2",

}

RIS

TY - JOUR

T1 - BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

AU - Meeks, Huong D

AU - Song, Honglin

AU - Michailidou, Kyriaki

AU - Bolla, Manjeet K

AU - Dennis, Joe

AU - Wang, Qin

AU - Barrowdale, Daniel

AU - Frost, Debra

AU - McGuffog, Lesley

AU - Ellis, Steve

AU - Feng, Bingjian

AU - Buys, Saundra S

AU - Hopper, John L

AU - Southey, Melissa C

AU - Tesoriero, Andrea

AU - James, Paul A

AU - Bruinsma, Fiona

AU - Campbell, Ian G

AU - Broeks, Annegien

AU - Schmidt, Marjanka K

AU - Hogervorst, Frans B L

AU - Beckman, Matthias W

AU - Fasching, Peter A

AU - Fletcher, Olivia

AU - Johnson, Nichola

AU - Sawyer, Elinor J

AU - Riboli, Elio

AU - Banerjee, Susana

AU - Menon, Usha

AU - Tomlinson, Ian

AU - Burwinkel, Barbara

AU - Hamann, Ute

AU - Marme, Frederik

AU - Rudolph, Anja

AU - Janavicius, Ramunas

AU - Tihomirova, Laima

AU - Tung, Nadine

AU - Garber, Judy

AU - Cramer, Daniel

AU - Terry, Kathryn L

AU - Poole, Elizabeth M

AU - Tworoger, Shelley S

AU - Dorfling, Cecilia M

AU - van Rensburg, Elizabeth J

AU - Godwin, Andrew K

AU - Guénel, Pascal

AU - Truong, Thérèse

AU - Stoppa-Lyonnet, Dominique

AU - Damiola, Francesca

AU - Mazoyer, Sylvie

AU - Sinilnikova, Olga M

AU - Isaacs, Claudine

AU - Maugard, Christine

AU - Bojesen, Stig E

AU - Flyger, Henrik

AU - Gerdes, Anne-Marie

AU - Hansen, Thomas V O

AU - Jensen, Allen

AU - Kjaer, Susanne K

AU - Hogdall, Claus

AU - Hogdall, Estrid

AU - Pedersen, Inge Sokilde

AU - Thomassen, Mads

AU - Benitez, Javier

AU - González-Neira, Anna

AU - Osorio, Ana

AU - Hoya, Miguel de la

AU - Segura, Pedro Perez

AU - Diez, Orland

AU - Lazaro, Conxi

AU - Brunet, Joan

AU - Anton-Culver, Hoda

AU - Eunjung, Lee

AU - John, Esther M

AU - Neuhausen, Susan L

AU - Ding, Yuan Chun

AU - Castillo, Danielle

AU - Weitzel, Jeffrey N

AU - Ganz, Patricia A

AU - Nussbaum, Robert L

AU - Chan, Salina B

AU - Karlan, Beth Y

AU - Lester, Jenny

AU - Wu, Anna

AU - Gayther, Simon

AU - Ramus, Susan J

AU - Sieh, Weiva

AU - Whittermore, Alice S

AU - Monteiro, Alvaro N A

AU - Phelan, Catherine M

AU - Terry, Mary Beth

AU - Piedmonte, Marion

AU - Offit, Kenneth

AU - Robson, Mark

AU - Levine, Douglas

AU - Moysich, Kirsten B

AU - Cannioto, Rikki

AU - Olson, Sara H

AU - Daly, Mary B

AU - Nathanson, Katherine L

AU - Domchek, Susan M

AU - Lu, Karen H

AU - Liang, Dong

AU - Hildebrant, Michelle A T

AU - Ness, Roberta

AU - Modugno, Francesmary

AU - Pearce, Leigh

AU - Goodman, Marc T

AU - Thompson, Pamela J

AU - Brenner, Hermann

AU - Butterbach, Katja

AU - Meindl, Alfons

AU - Hahnen, Eric

AU - Wappenschmidt, Barbara

AU - Brauch, Hiltrud

AU - Brüning, Thomas

AU - Blomqvist, Carl

AU - Khan, Sofia

AU - Nevanlinna, Heli

AU - Pelttari, Liisa M

AU - Aittomäki, Kristiina

AU - Butzow, Ralf

AU - Bogdanova, Natalia V

AU - Dörk, Thilo

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Rantala, Johanna

AU - Kosma, Veli-Matti

AU - Mannermaa, Arto

AU - Lambrechts, Diether

AU - Neven, Patrick

AU - Claes, Kathleen B M

AU - Maerken, Tom Van

AU - Chang-Claude, Jenny

AU - Flesch-Janys, Dieter

AU - Heitz, Florian

AU - Varon-Mateeva, Raymonda

AU - Peterlongo, Paolo

AU - Radice, Paolo

AU - Viel, Alessandra

AU - Barile, Monica

AU - Peissel, Bernard

AU - Manoukian, Siranoush

AU - Montagna, Marco

AU - Oliani, Cristina

AU - Peixoto, Ana

AU - Teixeira, Manuel R

AU - Collavoli, Anita

AU - Hallberg, Emily

AU - Olson, Janet E

AU - Goode, Ellen L

AU - Hart, Steven N

AU - Shimelis, Hermela

AU - Cunningham, Julie M

AU - Giles, Graham G

AU - Milne, Roger L

AU - Healey, Sue

AU - Tucker, Kathy

AU - Haiman, Christopher A

AU - Henderson, Brian E

AU - Goldberg, Mark S

AU - Tischkowitz, Marc

AU - Simard, Jacques

AU - Soucy, Penny

AU - Eccles, Diana M

AU - Le, Nhu

AU - Borresen-Dale, Anne-Lise

AU - Kristensen, Vessela

AU - Salvesen, Helga B

AU - Bjorge, Line

AU - Bandera, Elisa V

AU - Risch, Harvey

AU - Zheng, Wei

AU - Beeghly-Fadiel, Alicia

AU - Cai, Hui

AU - Pylkäs, Katri

AU - Tollenaar, Robert A E M

AU - Ouweland, Ans M W van der

AU - Andrulis, Irene L

AU - Knight, Julia A

AU - Narod, Steven

AU - Devilee, Peter

AU - Winqvist, Robert

AU - Figueroa, Jonine

AU - Greene, Mark H

AU - Mai, Phuong L

AU - Loud, Jennifer T

AU - García-Closas, Montserrat

AU - Schoemaker, Minouk J

AU - Czene, Kamila

AU - Darabi, Hatef

AU - McNeish, Iain

AU - Siddiquil, Nadeem

AU - Glasspool, Rosalind

AU - Kwong, Ava

AU - Park, Sue K

AU - Teo, Soo Hwang

AU - Yoon, Sook-Yee

AU - Matsuo, Keitaro

AU - Hosono, Satoyo

AU - Woo, Yin Ling

AU - Gao, Yu-Tang

AU - Foretova, Lenka

AU - Singer, Christian F

AU - Rappaport-Feurhauser, Christine

AU - Friedman, Eitan

AU - Laitman, Yael

AU - Rennert, Gad

AU - Imyanitov, Evgeny N

AU - Hulick, Peter J

AU - Olopade, Olufunmilayo I

AU - Senter, Leigha

AU - Olah, Edith

AU - Doherty, Jennifer A

AU - Schildkraut, Joellen

AU - Koppert, Linetta B

AU - Kiemeney, Lambertus A

AU - Massuger, Leon F A G

AU - Cook, Linda S

AU - Pejovic, Tanja

AU - Li, Jingmei

AU - Borg, Ake

AU - Öfverholm, Anna

AU - Rossing, Mary Anne

AU - Wentzensen, Nicolas

AU - Henriksson, Karin

AU - Cox, Angela

AU - Cross, Simon S

AU - Pasini, Barbara J

AU - Shah, Mitul

AU - Kabisch, Maria

AU - Torres, Diana

AU - Jakubowska, Anna

AU - Lubinski, Jan

AU - Gronwald, Jacek

AU - Agnarsson, Bjarni A

AU - Kupryjanczyk, Jolanta

AU - Moes-Sosnowska, Joanna

AU - Fostira, Florentia

AU - Konstantopoulou, Irene

AU - Slager, Susan

AU - Jones, Michael

AU - Antoniou, Antonis C

AU - Berchuck, Andrew

AU - Swerdlow, Anthony

AU - Chenevix-Trench, Georgia

AU - Dunning, Alison M

AU - Pharoah, Paul D P

AU - Hall, Per

AU - Easton, Douglas F

AU - Couch, Fergus J

AU - Spurdle, Amanda B

AU - Goldgar, David E

AU - EMBRACE Collaborators

N1 - © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

PY - 2016/2

Y1 - 2016/2

N2 - BACKGROUND: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers.METHODS: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided.RESULTS: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10(-5) and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10(-5), respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed.CONCLUSIONS: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations.

AB - BACKGROUND: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers.METHODS: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided.RESULTS: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10(-5) and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10(-5), respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed.CONCLUSIONS: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations.

U2 - 10.1093/jnci/djv315

DO - 10.1093/jnci/djv315

M3 - SCORING: Journal article

C2 - 26586665

VL - 108

SP - djv315

JO - JNCI-J NATL CANCER I

JF - JNCI-J NATL CANCER I

SN - 0027-8874

IS - 2

ER -