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: 1312G>T; Asp438Tyr; rs765436962

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: rs765436962

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?

Journal Of Genetic Counseling

Rashkin, Misha M; Kingham, Kerry K; Lara-Otero, Karlena K; Mckenna, Meghan M; Villiers, Janelle J; Worthington, Monty Mykolas MM; Prince, Anya A

Publication Date: 2022-10-19

Variant appearance in text: BRCA2: 1312G>T; Asp438Tyr

PubMed Link: 36260514

Variant Present in the following documents:

• JGC4-32-18.pdf

View BVdb publication page

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Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: D438Y

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: BRCA2: D438Y

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: BRCA2: D438Y

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.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: 1312G>T; Asp438Tyr; rs765436962

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Breast Cancer Research And Treatment

Ren, Megan M; Orozco, Anali A; Shao, Kang K; Albanez, Anaseidy A; Ortiz, Jeremy J; Cao, Boyang B; Wang, Lusheng L; Barreda, Lilian L; Alvarez, Christian S CS; Garland, Lisa L; Wu, Dongjing D; Chung, Charles C CC; Wang, Jiahui J; Frone, Megan M; Ralon, Sergio S; Argueta, Victor V; Orozco, Roberto R; Gharzouzi, Eduardo E; Dean, Michael M

Publication Date: 2021-09

Variant appearance in text: BRCA2: D438Y; rs765436962

PubMed Link: 34196900

Variant Present in the following documents:

• 10549_2021_6305_MOESM1_ESM.xlsx, sheet 3

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: 1312G>T; Asp438Tyr

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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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA2: 1312G>T; Asp438Tyr

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics

Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A

Publication Date: 2019-01-10

Variant appearance in text: BRCA2: 1312G>T; Asp438Tyr

PubMed Link: 30630528

Variant Present in the following documents:

• 40246_2018_188_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: D438Y

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Breast cancer protection by genomic imprinting in close kin families.

Bmc Medical Genetics

Denic, Srdjan S; Agarwal, Mukesh M MM

Publication Date: 2017-11-21

Variant appearance in text: BRCA2: D438Y

PubMed Link: 29157216

Variant Present in the following documents:

• 12881_2017_Article_498.pdf

View BVdb publication page

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The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Oncotarget

Eliade, Marie M; Skrzypski, Jeremy J; Baurand, Amandine A; Jacquot, Caroline C; Bertolone, Geoffrey G; Loustalot, Catherine C; Coutant, Charles C; Guy, France F; Fumoleau, Pierre P; Duffourd, Yannis Y; Arnould, Laurent L; Delignette, Alexandra A; Padéano, Marie-Martine MM; Lepage, Côme C; Raichon-Patru, Géraldine G; Boudrant, Axelle A; Bône-Lépinoy, Marie-Christine MC; Villing, Anne-Laure AL; Charpin, Aurélie A; Peignaux, Karine K; Chevrier, Sandy S; Vegran, Frédérique F; Ghiringhelli, François F; Boidot, Romain R; Sevenet, Nicolas N; Lizard, Sarab S; Faivre, Laurence L

Publication Date: 2017-01-10

Variant appearance in text: BRCA2: 1312G>T; Asp438Tyr

PubMed Link: 27779110

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: BRCA2: 1312G>T; D438Y

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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