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: 2059C>T; Gln687Ter; rs273898674

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Sukpan, Panupong P; Kanokwiroon, Kanyanatt K; Sriplung, Hutcha H; Laochareonsuk, Wison W; Choochuen, Pongsakorn P; Auseng, Nasuha N; Wanawanakorn, Kasemsun K; Sangkhathat, Surasak S

Publication Date: 2023-02-01

Variant appearance in text: BRCA1: 2059C>T

PubMed Link: 36853301

Variant Present in the following documents:

• Main text
• APJCP-24-525.pdf

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: 2059C>T; Gln687Ter

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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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: 2059C>T

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

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: 2059C>T; Gln687*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s005.xlsx, sheet 3
• IJC-152-1159-s009.xlsx, sheet 1
• IJC-152-1159-s001.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2

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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: BRCA1: 2059C>T; Q687X; rs273898674

PubMed Link: 35165121

Variant Present in the following documents:

• Main text
• LSA-2021-01263.pdf

View BVdb publication page

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BRCA1/2 mutation spectrum in Chinese early-onset breast cancer.

Translational Cancer Research

Shen, Mengjia M; Yang, Libo L; Lei, Ting T; Xiao, Lin L; Li, Li L; Zhang, Peichuan P; Feng, Weiyi W; Ye, Feng F; Bu, Hong H

Publication Date: 2019-04

Variant appearance in text: BRCA1: 2059C>T; Gln687Ter

PubMed Link: 35116780

Variant Present in the following documents:

• Main text
• tcr-08-02-483.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: 2059C>T; Gln687Ter; rs273898674

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: Q687X

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: 2059C>T; Gln687X

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: 2059C>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 mutations in Thai patients with nonmucinous epithelial ovarian cancer.

World Journal Of Clinical Oncology

Manchana, Tarinee T; Phowthongkum, Prasit P; Teerapakpinyo, Chinachote C

Publication Date: 2019-11-24

Variant appearance in text: BRCA1: 2059C>T; Gln687Ter

PubMed Link: 31815095

Variant Present in the following documents:

• Main text
• WJCO-10-358.pdf

View BVdb publication page

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BRCA mutation in high grade epithelial ovarian cancers.

Gynecologic Oncology Reports

Manchana, Tarinee T; Phoolcharoen, Natacha N; Tantbirojn, Patou P

Publication Date: 2019-08

Variant appearance in text: BRCA1: 2059C>T; Gln687Ter

PubMed Link: 31467961

Variant Present in the following documents:

• main.pdf

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: rs273898674

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 2
• IJC-145-962-s007.xlsx, sheet 4
• IJC-145-962-s004.xlsx, sheet 1

View BVdb publication page

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Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics

Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S

Publication Date: 2018-04

Variant appearance in text: BRCA1: 2059C>T; Gln687Ter

PubMed Link: 29176636

Variant Present in the following documents:

• Main text
• 10038_2017_Article_355.pdf

View BVdb publication page

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Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics

Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S

Publication Date: 2018-04

Variant appearance in text: BRCA1: 2059C>T; Gln687Ter

PubMed Link: 29176636

Variant Present in the following documents:

• Main text
• 10038_2017_Article_355.pdf

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: BRCA1: 2059C>T; Gln687Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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