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: BRCA1: 616C>T; Gln206Ter; rs397509301

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: BRCA1: 616C>T; Gln206Ter

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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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: 616C>T; Gln206*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: BRCA1: Q206X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: BRCA1: 616C>T; Gln206*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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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: 616C>T; Gln206*; rs397509301

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

View BVdb publication page

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Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

European Urology

Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN

Publication Date: 2022-06

Variant appearance in text: BRCA1: Q206X

PubMed Link: 34711450

Variant Present in the following documents:

• NIHMS1772233-supplement-Supplementary_Tables.xlsx, sheet 3

View BVdb publication page

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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: 616C>T; Q206X

PubMed Link: 34657357

Variant Present in the following documents:

• Main text
• CAS-112-5055.pdf

View BVdb publication page

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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: 616C>T; Q206X

PubMed Link: 34657357

Variant Present in the following documents:

• Main text
• CAS-112-5055.pdf

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: BRCA1: 616C>T; Gln206Ter; rs397509301

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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Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA1: Q206X

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 616C>T; Gln206X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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: BRCA1: 616C>T

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM2_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: BRCA1: 616C>T; Gln206Ter; rs397509301

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s004.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: BRCA1: 616C>T; Gln206*; rs397509301

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Oncotarget

Kim, Yeong C YC; Zhao, Linli L; Zhang, Hanwen H; Huang, Ye Y; Cui, Jian J; Xiao, Fengxia F; Downs, Bradley B; Wang, San Ming SM

Publication Date: 2016-02-23

Variant appearance in text: BRCA1: 616C>T; Gln206*

PubMed Link: 26848529

Variant Present in the following documents:

• oncotarget-07-9600-s002.xlsx, sheet 1

View BVdb publication page

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Hereditary breast cancer in the Han Chinese population.

Journal Of Epidemiology

Cao, Wenming W; Wang, Xiaojia X; Li, Ji-Cheng JC

Publication Date: 2013

Variant appearance in text: BRCA1: Q206X

PubMed Link: 23318652

Variant Present in the following documents:

• je-23-075-s001.pdf

View BVdb publication page

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