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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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: 6155C>G; Ser2052Ter

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: BRCA2: 6155C>G

PubMed Link: 36385461

Variant Present in the following documents:

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

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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports

Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE

Publication Date: 2022-11-03

Variant appearance in text: BRCA2: 6155C>G; S2052*; rs786202461

PubMed Link: 36329109

Variant Present in the following documents:

• 41598_2022_Article_23012.pdf
• 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: BRCA2: 6155C>G

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes.

Nature Communications

Ansari-Pour, Naser N; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Sanni, Ayodele A; Ajani, Mustapha M; Reynier, Jean-Baptiste JB; Tapinos, Avraam A; Pitt, Jason J JJ; Dentro, Stefan S; Woodard, Anna A; Rajagopal, Padma Sheila PS; Fitzgerald, Dominic D; Gruber, Andreas J AJ; Odetunde, Abayomi A; Popoola, Abiodun A; Falusi, Adeyinka G AG; Babalola, Chinedum Peace CP; Ogundiran, Temidayo T; Ibrahim, Nasiru N; Barretina, Jordi J; Van Loo, Peter P; Chen, Mengjie M; White, Kevin P KP; Ojengbede, Oladosu O; Obafunwa, John J; Huo, Dezheng D; Wedge, David C DC; Olopade, Olufunmilayo I OI

Publication Date: 2021-11-26

Variant appearance in text: BRCA2: S2052X

PubMed Link: 34836952

Variant Present in the following documents:

• 41467_2021_27079_MOESM4_ESM.xlsx, sheet 1

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: 6155C>G; Ser2052Ter

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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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: BRCA2: 6155C>G; Ser2052X

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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Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.

Bmc Cancer

Eoh, Kyung Jin KJ; Kim, Hye Min HM; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Young Tae YT; Nam, Eun Ji EJ

Publication Date: 2020-03-12

Variant appearance in text: BRCA2: 6155C>G; Ser2052Ter

PubMed Link: 32164585

Variant Present in the following documents:

• 12885_2020_6693_MOESM2_ESM.xlsx, 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: rs786202461

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s005.xlsx, sheet 1

View BVdb publication page

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FANCD2 limits replication stress and genome instability in cells lacking BRCA2.

Nature Structural & Molecular Biology

Michl, Johanna J; Zimmer, Jutta J; Buffa, Francesca M FM; McDermott, Ultan U; Tarsounas, Madalena M

Publication Date: 2016-08

Variant appearance in text: BRCA2: S2052*

PubMed Link: 27322732

Variant Present in the following documents:

• NIHMS69022-supplement-Supplementary_Tables.pdf

View BVdb publication page

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Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Castro, Elena E; Goh, Chee C; Olmos, David D; Saunders, Ed E; Leongamornlert, Daniel D; Tymrakiewicz, Malgorzata M; Mahmud, Nadiya N; Dadaev, Tokhir T; Govindasami, Koveela K; Guy, Michelle M; Sawyer, Emma E; Wilkinson, Rosemary R; Ardern-Jones, Audrey A; Ellis, Steve S; Frost, Debra D; Peock, Susan S; Evans, D Gareth DG; Tischkowitz, Marc M; Cole, Trevor T; Davidson, Rosemarie R; Eccles, Diana D; Brewer, Carole C; Douglas, Fiona F; Porteous, Mary E ME; Donaldson, Alan A; Dorkins, Huw H; Izatt, Louise L; Cook, Jackie J; Hodgson, Shirley S; Kennedy, M John MJ; Side, Lucy E LE; Eason, Jacqueline J; Murray, Alex A; Antoniou, Antonis C AC; Easton, Douglas F DF; Kote-Jarai, Zsofia Z; Eeles, Rosalind R

Publication Date: 2013-05-10

Variant appearance in text: BRCA2: 6155C>G

PubMed Link: 23569316

Variant Present in the following documents:

• Main text

View BVdb publication page

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