BRCA1 c.1480C>T ;(p.Q494*)

Variant ID: 17-41246068-G-A

NM_007294.3(BRCA1):c.1480C>T;(p.Q494*)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA1: 1480C>T; Q494*; rs80357010
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 1480C>T; Gln494Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA1: 1480C>T
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 1480C>T; Gln494*
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s011.xlsx, sheet 1
  • IJC-152-1159-s005.xlsx, sheet 3
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s005.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
View BVdb publication page



Potential Targeted Therapies in Ovarian Cancer.

Pharmaceuticals (Basel, Switzerland)
Sisman, Yagmur Y; Vestergaard, Lau Kræsing LK; de Oliveira, Douglas Nogueira Perez DNP; Poulsen, Tim Svenstrup TS; Schnack, Tine Henrichsen TH; Høgdall, Claus C; Høgdall, Estrid E
Publication Date: 2022-10-26

Variant appearance in text: BRCA1: Gln494Ter
PubMed Link: 36355495
Variant Present in the following documents:
  • pharmaceuticals-15-01324.pdf
View BVdb publication page



Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06

Variant appearance in text: BRCA1: 1480C>T; Gln494X
PubMed Link: 36203093
Variant Present in the following documents:
  • 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14
View BVdb publication page



Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Jama Oncology
Momozawa, Yukihide Y; Sasai, Rumi R; Usui, Yoshiaki Y; Shiraishi, Kouya K; Iwasaki, Yusuke Y; Taniyama, Yukari Y; Parsons, Michael T MT; Mizukami, Keijiro K; Sekine, Yuya Y; Hirata, Makoto M; Kamatani, Yoichiro Y; Endo, Mikiko M; Inai, Chihiro C; Takata, Sadaaki S; Ito, Hidemi H; Kohno, Takashi T; Matsuda, Koichi K; Nakamura, Seigo S; Sugano, Kokichi K; Yoshida, Teruhiko T; Nakagawa, Hidewaki H; Matsuo, Keitaro K; Murakami, Yoshinori Y; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2022-06-01

Variant appearance in text: BRCA1: 1480C>T; Gln494*; rs80357010
PubMed Link: 35420638
Variant Present in the following documents:
  • jamaoncol-e220476-s001.pdf
View BVdb publication page



Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine
Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M
Publication Date: 2021-12-02

Variant appearance in text: BRCA1: 1480C>T; Gln494Ter
PubMed Link: 34857041
Variant Present in the following documents:
  • 13073_2021_978_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science
Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG
Publication Date: 2021-12

Variant appearance in text: BRCA1: 1480C>T; Q494X
PubMed Link: 34657357
Variant Present in the following documents:
  • Main text
  • CAS-112-5055.pdf
View BVdb publication page



Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science
Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG
Publication Date: 2021-12

Variant appearance in text: BRCA1: 1480C>T; Q494X
PubMed Link: 34657357
Variant Present in the following documents:
  • Main text
  • CAS-112-5055.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA1: 1480C>T; Gln494Ter; rs80357010
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Can TP53 variant negative be high-grade serous ovarian carcinoma? A case series.

Gynecologic Oncology Reports
Kasherman, Lawrence L; Garg, Swati S; Tchrakian, Nairi N; Clarke, Blaise B; Karakasis, Katherine K; Kim, Raymond H RH; Stockley, Tracy L TL; Dhani, Neesha N; Oza, Amit M AM; Lheureux, Stephanie S
Publication Date: 2021-05

Variant appearance in text: BRCA1: Gln494*
PubMed Link: 33718561
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.

Journal Of Gynecologic Oncology
Jung, Yuyeon Y; Hur, Sooyoung S; Liu, JingJing J; Lee, Sanha S; Kang, Byung Soo BS; Kim, Myungshin M; Choi, Youn Jin YJ
Publication Date: 2021-03

Variant appearance in text: BRCA1: 1480C>T
PubMed Link: 33470065
Variant Present in the following documents:
  • jgo-32-e23-s001.xls, sheet 1
View BVdb publication page



Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology
Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC
Publication Date: 2020-11

Variant appearance in text: BRCA1: 1480C>T
PubMed Link: 33078592
Variant Present in the following documents:
  • jgo-31-e83-s007.xls, sheet 1
  • jgo-31-e83-s008.xls, sheet 1
  • jgo-31-e83-s009.xls, sheet 1
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 1480C>T; Gln494X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports
De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI
Publication Date: 2020-04-27

Variant appearance in text: BRCA1: 1480C>T; Gln494*
PubMed Link: 32341426
Variant Present in the following documents:
  • 41598_2020_63759_MOESM1_ESM.pdf
View BVdb publication page



Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2020-04

Variant appearance in text: BRCA1: 1480C>T
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs80357010
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s004.xlsx, sheet 1
  • IJC-145-962-s007.xlsx, sheet 2
  • IJC-145-962-s007.xlsx, sheet 4
View BVdb publication page



GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Frontiers In Oncology
Lesueur, Fabienne F; Mebirouk, Noura N; Jiao, Yue Y; Barjhoux, Laure L; Belotti, Muriel M; Laurent, Maïté M; Léone, Mélanie M; Houdayer, Claude C; Bressac-de Paillerets, Brigitte B; Vaur, Dominique D; Sobol, Hagay H; Noguès, Catherine C; Longy, Michel M; Mortemousque, Isabelle I; Fert-Ferrer, Sandra S; Mouret-Fourme, Emmanuelle E; Pujol, Pascal P; Venat-Bouvet, Laurence L; Bignon, Yves-Jean YJ; Leroux, Dominique D; Coupier, Isabelle I; Berthet, Pascaline P; Mari, Véronique V; Delnatte, Capucine C; Gesta, Paul P; Collonge-Rame, Marie-Agnès MA; Giraud, Sophie S; Bonadona, Valérie V; Baurand, Amandine A; Faivre, Laurence L; Buecher, Bruno B; Lasset, Christine C; Gauthier-Villars, Marion M; Damiola, Francesca F; Mazoyer, Sylvie S; Caputo, Sandrine M SM; Andrieu, Nadine N; Stoppa-Lyonnet, Dominique D; ,
Publication Date: 2018

Variant appearance in text: BRCA1: 1480C>T
PubMed Link: 30430080
Variant Present in the following documents:
  • Main text
  • fonc-08-00490.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA1: 1480C>T; Gln494Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Breast Cancer Research And Treatment
Park, Boyoung B; Sohn, Ji Yeon JY; Yoon, Kyong-Ah KA; Lee, Keun Seok KS; Cho, Eun Hae EH; Lim, Myong Cheol MC; Yang, Moon Jung MJ; Park, Soo Jin SJ; Lee, Moo Hyun MH; Lee, See Youn SY; Chang, Yoon Jung YJ; Lee, Dong Ock DO; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2017-05

Variant appearance in text: BRCA1: 1480C>T; Gln494*
PubMed Link: 28205045
Variant Present in the following documents:
  • Main text
  • 10549_2017_Article_4142.pdf
View BVdb publication page



Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

European Journal Of Human Genetics : Ejhg
Walker, Logan C LC; Marquart, Louise L; Pearson, John F JF; Wiggins, George A R GA; O'Mara, Tracy A TA; Parsons, Michael T MT; , ; Barrowdale, Daniel D; McGuffog, Lesley L; Dennis, Joe J; Benitez, Javier J; Slavin, Thomas P TP; Radice, Paolo P; Frost, Debra D; , ; Godwin, Andrew K AK; Meindl, Alfons A; Schmutzler, Rita Katharina RK; , ; Isaacs, Claudine C; Peshkin, Beth N BN; Caldes, Trinidad T; Hogervorst, Frans Bl FB; , ; Lazaro, Conxi C; Jakubowska, Anna A; Montagna, Marco M; , ; Chen, Xiaoqing X; Offit, Kenneth K; Hulick, Peter J PJ; Andrulis, Irene L IL; Lindblom, Annika A; Nussbaum, Robert L RL; Nathanson, Katherine L KL; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Couch, Fergus J FJ; Spurdle, Amanda B AB
Publication Date: 2017-04

Variant appearance in text: BRCA1: 1480C>T
PubMed Link: 28145423
Variant Present in the following documents:
  • ejhg2016203x2.xls, sheet 1
View BVdb publication page



The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Oncotarget
Eliade, Marie M; Skrzypski, Jeremy J; Baurand, Amandine A; Jacquot, Caroline C; Bertolone, Geoffrey G; Loustalot, Catherine C; Coutant, Charles C; Guy, France F; Fumoleau, Pierre P; Duffourd, Yannis Y; Arnould, Laurent L; Delignette, Alexandra A; Padéano, Marie-Martine MM; Lepage, Côme C; Raichon-Patru, Géraldine G; Boudrant, Axelle A; Bône-Lépinoy, Marie-Christine MC; Villing, Anne-Laure AL; Charpin, Aurélie A; Peignaux, Karine K; Chevrier, Sandy S; Vegran, Frédérique F; Ghiringhelli, François F; Boidot, Romain R; Sevenet, Nicolas N; Lizard, Sarab S; Faivre, Laurence L
Publication Date: 2017-01-10

Variant appearance in text: BRCA1: 1480C>T; Gln494Ter
PubMed Link: 27779110
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 germline mutations may be associated with reduced ovarian reserve.

Fertility And Sterility
Wang, Erica T ET; Pisarska, Margareta D MD; Bresee, Catherine C; Chen, Yii-Der Ida YD; Lester, Jenny J; Afshar, Yalda Y; Alexander, Carolyn C; Karlan, Beth Y BY
Publication Date: 2014-12

Variant appearance in text: BRCA1: Q494X
PubMed Link: 25256924
Variant Present in the following documents:
  • Main text
View BVdb publication page