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: 2231C>A; Ser744Ter

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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Whole exome sequencing in Chinese mucinous pulmonary adenocarcinoma uncovers specific genetic variations different from lung adenocarcinoma.

Frontiers In Oncology

Zhang, Chenyue C; Wang, Kai K; Liu, Wenjie W; Lin, Jiamao J; Li, Zhenxiang Z; Wang, Hui H; Zhao, Chenglong C; Chen, Yanhua Y; Wu, Shuangxiu S; Yang, Airong A; Wu, Jiayan J; Wang, Haiyong H

Publication Date: 2022

Variant appearance in text: BRCA2: S744*

PubMed Link: 36591517

Variant Present in the following documents:

• fonc-12-1054845.pdf

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs397507282

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.

Frontiers In Oncology

Wu, Tianqi T; Wan, Jian J; Xia, Kai K; Yang, Muqing M; Feng, Lijin L; Yin, Lu L; Chen, Chunqiu C

Publication Date: 2022

Variant appearance in text: BRCA2: 2231C>A; S744X

PubMed Link: 35912179

Variant Present in the following documents:

• Main text
• fonc-12-910264.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: BRCA2: 2231C>A; Ser744Ter

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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Characterizing CDK12-Mutated Prostate Cancers.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Rescigno, Pasquale P; Gurel, Bora B; Pereira, Rita R; Crespo, Mateus M; Rekowski, Jan J; Rediti, Mattia M; Barrero, Maialen M; Mateo, Joaquin J; Bianchini, Diletta D; Messina, Carlo C; Fenor de la Maza, Maria D MD; Chandran, Khobe K; Carmichael, Juliet J; Guo, Christina C; Paschalis, Alec A; Sharp, Adam A; Seed, George G; Figueiredo, Ines I; Lambros, Maryou M; Miranda, Susana S; Ferreira, Ana A; Bertan, Claudia C; Riisnaes, Ruth R; Porta, Nuria N; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2021-01-15

Variant appearance in text: BRCA2: S744*

PubMed Link: 32988971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: BRCA2: S744*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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: 2231C>A; Ser744X

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: BRCA2: 2231C>A

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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Complete pathological response following neoadjuvant FOLFOX chemotherapy in BRCA2-mutant locally advanced rectal cancer: a case report.

Bmc Cancer

Lin, Zhenyu Z; Liu, Junli J; Peng, Li L; Zhang, Dejun D; Jin, Ming M; Wang, Jing J; Xue, Jun J; Liu, Hongli H; Zhang, Tao T

Publication Date: 2018-12-14

Variant appearance in text: BRCA2: 2231C>A; S744*

PubMed Link: 30547773

Variant Present in the following documents:

• Main text
• 12885_2018_Article_5182.pdf

View BVdb publication page

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