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: 3479G>A; Arg1160Lys; rs183920365

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: BRCA2: R1160K; rs183920365

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: R1160K

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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Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Npj Breast Cancer

Herzog, Josef S JS; Chavarri-Guerra, Yanin Y; Castillo, Danielle D; Abugattas, Julio J; Villarreal-Garza, Cynthia C; Sand, Sharon S; Clague-Dehart, Jessica J; Alvarez-Gómez, Rosa M RM; Wegman-Ostrosky, Talia T; Mohar, Alejandro A; Mora, Pamela P; Del Toro-Valero, Azucena A; Daneri-Navarro, Adrian A; Rodriguez, Yenni Y; Cruz-Correa, Marcia M; Ashton-Prolla, Patricia P; Alemar, Bárbara B; Mejia, Rosa R; Gallardo, Lenny L; Shaw, Robin R; Yang, Kai K; Cervantes, Aleck A; Tsang, Kevin K; Nehoray, Bita B; Barrera Saldana, Hugo H; Neuhausen, Susan S; Weitzel, Jeffrey N JN

Publication Date: 2021-08-19

Variant appearance in text: rs183920365

PubMed Link: 34413315

Variant Present in the following documents:

• 41523_2021_317_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Nature Communications

Lin, Jianzhen J; Peng, Xinxin X; Dong, Kun K; Long, Junyu J; Guo, Xuejiao X; Li, Hongyue H; Bai, Yi Y; Yang, Xu X; Wang, Dongxu D; Lu, Xin X; Mao, Yilei Y; Sang, Xinting X; Ji, Xuwo X; Zhao, Haitao H; Liang, Han H

Publication Date: 2021-08-06

Variant appearance in text: BRCA2: R1160K

PubMed Link: 34362903

Variant Present in the following documents:

• 41467_2021_25012_MOESM3_ESM.xlsx, sheet 2

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: FANCD1: R1160K

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: BRCA2: R1160K

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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Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics

Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ

Publication Date: 2020

Variant appearance in text: BRCA2: R1160K

PubMed Link: 33281875

Variant Present in the following documents:

• Main text

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: 3479G>A; Arg1160Lys

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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Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

Journal Of The Endocrine Society

França, Monica Malheiros MM; Mendonca, Berenice Bilharinho BB

Publication Date: 2020-02-01

Variant appearance in text: BRCA2: 3479G>A

PubMed Link: 32099950

Variant Present in the following documents:

• Main text

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: 3479G>A; R1160K; rs183920365

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes

Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R

Publication Date: 2019-10-10

Variant appearance in text: BRCA2: 3479G>A

PubMed Link: 31658756

Variant Present in the following documents:

• Main text
• genes-10-00786.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: BRCA2: 3479G>A; R1160K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 3479G>A; Arg1160Lys

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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: 3479G>A; Arg1160Lys; rs183920365

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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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: BRCA2: 3479G>A; R1160K

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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: R1160K

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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: BRCA2: 3479G>A; Arg1160Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software.

Biomed Research International

Poulet, Axel A; Privat, Maud M; Ponelle, Flora F; Viala, Sandrine S; Decousus, Stephanie S; Perin, Axel A; Lafarge, Laurence L; Ollier, Marie M; El Saghir, Nagi S NS; Uhrhammer, Nancy N; Bignon, Yves-Jean YJ; Bidet, Yannick Y

Publication Date: 2016

Variant appearance in text: BRCA2: 3479G>A

PubMed Link: 27656653

Variant Present in the following documents:

• Main text
• BMRI2016-5623089.pdf

View BVdb publication page

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