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: 8525G>T; Arg2842Leu; rs80359105

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: rs80359105

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

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: R2842L

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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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine

Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA

Publication Date: 2022-06-03

Variant appearance in text: BRCA2: R2842L

PubMed Link: 35665744

Variant Present in the following documents:

• 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
• 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
• 41525_2022_Article_302.pdf

View BVdb publication page

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Variomes: a high recall search engine to support the curation of genomic variants.

Bioinformatics (Oxford, England)

Pasche, Emilie E; Mottaz, Anaïs A; Caucheteur, Déborah D; Gobeill, Julien J; Michel, Pierre-André PA; Ruch, Patrick P

Publication Date: 2022-04-28

Variant appearance in text: BRCA2: R2842L

PubMed Link: 35274687

Variant Present in the following documents:

• Main text
• btac146.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: 8525G>T; R2842L; rs80359105

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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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: 8525G>T; Arg2842Leu

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: N/A

PubMed Link: 31911673

Variant Present in the following documents:

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: 8525G>T

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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The functional impact of variants of uncertain significance in BRCA2.

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

Mesman, Romy L S RLS; Calléja, Fabienne M G R FMGR; Hendriks, Giel G; Morolli, Bruno B; Misovic, Branislav B; Devilee, Peter P; van Asperen, Christi J CJ; Vrieling, Harry H; Vreeswijk, Maaike P G MPG

Publication Date: 2019-02

Variant appearance in text: BRCA2: 8525G>T; Arg2842Leu

PubMed Link: 29988080

Variant Present in the following documents:

• Main text
• 41436_2018_Article_52.pdf
• 41436_2018_52_MOESM1_ESM.pdf

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: R2842L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

American Journal Of Human Genetics

Guidugli, Lucia L; Shimelis, Hermela H; Masica, David L DL; Pankratz, Vernon S VS; Lipton, Gary B GB; Singh, Namit N; Hu, Chunling C; Monteiro, Alvaro N A ANA; Lindor, Noralane M NM; Goldgar, David E DE; Karchin, Rachel R; Iversen, Edwin S ES; Couch, Fergus J FJ

Publication Date: 2018-02-01

Variant appearance in text: BRCA2: 8525G>T; Arg2842Leu

PubMed Link: 29394989

Variant Present in the following documents:

• Main text

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: 8525G>T; Arg2842Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Functional assays for analysis of variants of uncertain significance in BRCA2.

Human Mutation

Guidugli, Lucia L; Carreira, Aura A; Caputo, Sandrine M SM; Ehlen, Asa A; Galli, Alvaro A; Monteiro, Alvaro N A AN; Neuhausen, Susan L SL; Hansen, Thomas V O TV; Couch, Fergus J FJ; Vreeswijk, Maaike P G MP; ,

Publication Date: 2014-02

Variant appearance in text: BRCA2: Arg2842Leu

PubMed Link: 24323938

Variant Present in the following documents:

• Main text

View BVdb publication page

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A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Cancer Research

Guidugli, Lucia L; Pankratz, Vernon S VS; Singh, Namit N; Thompson, James J; Erding, Catherine A CA; Engel, Christoph C; Schmutzler, Rita R; Domchek, Susan S; Nathanson, Katherine K; Radice, Paolo P; Singer, Christian C; Tonin, Patricia N PN; Lindor, Noralane M NM; Goldgar, David E DE; Couch, Fergus J FJ

Publication Date: 2013-01-01

Variant appearance in text: BRCA2: R2842L

PubMed Link: 23108138

Variant Present in the following documents:

• Main text

View BVdb publication page

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Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Cancer Informatics

Karchin, Rachel R; Agarwal, Mukesh M; Sali, Andrej A; Couch, Fergus F; Beattie, Mary S MS

Publication Date: 2008

Variant appearance in text: BRCA2: R2842L

PubMed Link: 19043619

Variant Present in the following documents:

• cin-6-0203-s1.pdf

View BVdb publication page

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