Publications:

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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: BRCA2: 3859_3860del; Asn1287fs

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: BRCA2: 3859_3860del; Asn1287fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance

Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2022-05

Variant appearance in text: BRCA2: 3854_3855del

PubMed Link: 35165121

Variant Present in the following documents:

• LSA-2021-01263_TableS5.xlsx, sheet 3

View BVdb publication page

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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: BRCA2: 3859_3860delAA; Asn1287Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS.

Nature Communications

Rose Brannon, A A; Jayakumaran, Gowtham G; Diosdado, Monica M; Patel, Juber J; Razumova, Anna A; Hu, Yu Y; Meng, Fanli F; Haque, Mohammad M; Sadowska, Justyna J; Murphy, Brian J BJ; Baldi, Tessara T; Johnson, Ian I; Ptashkin, Ryan R; Hasan, Maysun M; Srinivasan, Preethi P; Rema, Anoop Balakrishnan AB; Rijo, Ivelise I; Agarunov, Aaron A; Won, Helen H; Perera, Dilmi D; Brown, David N DN; Samoila, Aliaksandra A; Jing, Xiaohong X; Gedvilaite, Erika E; Yang, Julie L JL; Stephens, Dennis P DP; Dix, Jenna-Marie JM; DeGroat, Nicole N; Nafa, Khedoudja K; Syed, Aijazuddin A; Li, Alan A; Lebow, Emily S ES; Bowman, Anita S AS; Ferguson, Donna C DC; Liu, Ying Y; Mata, Douglas A DA; Sharma, Rohit R; Yang, Soo-Ryum SR; Bale, Tejus T; Benhamida, Jamal K JK; Chang, Jason C JC; Dogan, Snjezana S; Hameed, Meera R MR; Hechtman, Jaclyn F JF; Moung, Christine C; Ross, Dara S DS; Vakiani, Efsevia E; Vanderbilt, Chad M CM; Yao, JinJuan J; Razavi, Pedram P; Smyth, Lillian M LM; Chandarlapaty, Sarat S; Iyer, Gopa G; Abida, Wassim W; Harding, James J JJ; Krantz, Benjamin B; O'Reilly, Eileen E; Yu, Helena A HA; Li, Bob T BT; Rudin, Charles M CM; Diaz, Luis L; Solit, David B DB; Arcila, Maria E ME; Ladanyi, Marc M; Loomis, Brian B; Tsui, Dana D; Berger, Michael F MF; Zehir, Ahmet A; Benayed, Ryma R

Publication Date: 2021-06-18

Variant appearance in text: BRCA2: 3859_3860delAA; N1287*

PubMed Link: 34145282

Variant Present in the following documents:

• 41467_2021_24109_MOESM1_ESM.pdf

View BVdb publication page

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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: BRCA2: 3859_3860delAA

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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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: BRCA2: 3859_3860delAA

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s006.xlsx, sheet 3

View BVdb publication page

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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: BRCA2: 3859_3860delAA; Asn1287Terfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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