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: 5219T>G; L1740*

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: 5219T>G; Leu1740Ter

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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Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations.

Jco Global Oncology

Hayat, Mahtaab M; Chen, Wenlong Carl WC; Brandenburg, Jean-Tristan JT; Babb de Villiers, Chantal C; Ramsay, Michèle M; Mathew, Christopher G CG

Publication Date: 2021-09

Variant appearance in text: BRCA2: Leu1740Ter

PubMed Link: 34623906

Variant Present in the following documents:

• go-7-go.21.00089.pdf

View BVdb publication page

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Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Frontiers In Oncology

Zhang, Shirong S; Xu, Yang Y; Zhao, Pan P; Bao, Hua H; Wang, Xiyong X; Liu, Rui R; Xu, Rujun R; Xiang, Jingjing J; Jiang, Hong H; Yan, Junrong J; Wu, Xue X; Shao, Yang Y; Liang, Jiafeng J; Wu, Qiong Q; Zhang, Zhihao Z; Lu, Shun S; Ma, Shenglin S

Publication Date: 2021

Variant appearance in text: BRCA2: 5219T>G; L1740*

PubMed Link: 34221970

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.

Molecular Genetics & Genomic Medicine

Wang, Jiangfen J; Qin, Jiayue J; Xi, Chunfang C; Zhang, Yafen Y

Publication Date: 2020-09

Variant appearance in text: BRCA2: 5219T>G; Leu1740Ter

PubMed Link: 32686918

Variant Present in the following documents:

• MGG3-8-e1411.pdf

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: 5219T>G; Leu1740X

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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Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal.

Npj Genomic Medicine

Ndiaye, Rokhaya R; Diop, Jean Pascal Demba JPD; Bourdon-Huguenin, Violaine V; Dem, Ahmadou A; Diouf, Doudou D; Dieng, Mamadou Moustapha MM; Diop, Pape Saloum PS; Kane Gueye, Serigne Modou SM; Ba, Seydi Abdoul SA; Dia, Yacouba Y; Ka, Sidy S; Mbengue, Babacar B; Thiam, Alassane A; Sylla Niang, Maguette M; Gueye, Papa Madieye PM; Faye, Oumar O; Lopez Sall, Philomene P; Cisse, Aynina A; Diop, Papa Amadou PA; Sobol, Hagay H; Dieye, Alioune A

Publication Date: 2020

Variant appearance in text: BRCA2: 5219T>G; Leu1740Ter

PubMed Link: 32025337

Variant Present in the following documents:

• Main text
• 41525_2020_Article_114.pdf

View BVdb publication page

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BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.

Bmc Medical Genetics

Farra, Chantal C; Dagher, Christelle C; Hamadeh, Lama L; El Saghir, Nagi N; Mukherji, Deborah D

Publication Date: 2019-09-05

Variant appearance in text: BRCA2: 5219T>G; Leu1740Ter

PubMed Link: 31488070

Variant Present in the following documents:

• 12881_2019_Article_885.pdf

View BVdb publication page

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Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.

Bmc Medical Genetics

Diop, Jean Pascal Demba JPD; Diallo, Rokhaya Ndiaye RN; Bourdon-Huguenin, Violaine V; Dem, Ahmadou A; Diouf, Doudou D; Dieng, Mamadou Moustapha MM; Ba, Seydi Abdoul SA; Dia, Yacouba Y; Ka, Sidy S; Mbengue, Babacar B; Thiam, Alassane A; Faye, Oumar O; Diop, Papa Amadou PA; Sobol, Hagay H; Dieye, Alioune A

Publication Date: 2019-05-06

Variant appearance in text: BRCA2: 5219T>G; Leu1740Ter

PubMed Link: 31060517

Variant Present in the following documents:

• Main text
• 12881_2019_Article_814.pdf

View BVdb publication page

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