Publications:

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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: A2756G

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.

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

Hu, Chunling C; Susswein, Lisa R LR; Roberts, Maegan E ME; Yang, Hana H; Marshall, Megan L ML; Hiraki, Susan S; Berkofsky-Fessler, Windy W; Gupta, Sounak S; Shen, Wei W; Dunn, Carolyn A CA; Huang, Huaizhi H; Na, Jie J; Domchek, Susan M SM; Yadav, Siddhartha S; Monteiro, Alvaro N A ANA; Polley, Eric C EC; Hart, Steven N SN; Hruska, Kathleen S KS; Couch, Fergus J FJ

Publication Date: 2022-09-01

Variant appearance in text: BRCA2: 8267C>G; Ala2756Gly

PubMed Link: 35736817

Variant Present in the following documents:

• Main text
• 3742.pdf
• ccr-22-0203_supplementary_table_2_suppts2.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: A2756G

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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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: A2756G

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

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Strong Correlation of MTHFR Gene Polymorphisms with Breast Cancer and its Prognostic Clinical Factors among Egyptian Females.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Omran, Moataza H MH; Fotouh, Basma E BE; Shousha, Wafaa G WG; Ismail, Abeer A; Ibrahim, Noha E NE; Ramadan, Shimaa S SS

Publication Date: 2021-02-01

Variant appearance in text: BRCA2: A2756G

PubMed Link: 33639682

Variant Present in the following documents:

• APJCP-22-617.pdf

View BVdb publication page

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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

American Journal Of Human Genetics

Richardson, Marcy E ME; Hu, Chunling C; Lee, Kun Y KY; LaDuca, Holly H; Fulk, Kelly K; Durda, Kate M KM; Deckman, Ashley M AM; Goldgar, David E DE; Monteiro, Alvaro N A ANA; Gnanaolivu, Rohan R; Hart, Steven N SN; Polley, Eric C EC; Chao, Elizabeth E; Pesaran, Tina T; Couch, Fergus J FJ

Publication Date: 2021-03-04

Variant appearance in text: BRCA2: Ala2756Gly

PubMed Link: 33609447

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: 8267C>G; Ala2756Gly

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: 8267C>G; Ala2756Gly; rs1555287069

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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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: 8267C>G

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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Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing.

Oncology Research

Chang, Ya-Sian YS; Chang, Chieh-Min CM; Lin, Chien-Yu CY; Chao, Dy-San DS; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG

Publication Date: 2020-03-27

Variant appearance in text: BRCA2: A2756G

PubMed Link: 31575382

Variant Present in the following documents:

• Main text
• OR-28-107.pdf

View BVdb publication page

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Genetic Epidemiology of Breast Cancer in Latin America.

Genes

Zavala, Valentina A VA; Serrano-Gomez, Silvia J SJ; Dutil, Julie J; Fejerman, Laura L

Publication Date: 2019-02-18

Variant appearance in text: BRCA2: A2756G

PubMed Link: 30781715

Variant Present in the following documents:

• genes-10-00153.pdf

View BVdb publication page

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Gene-environment interactions and predictors of breast cancer in family-based multi-ethnic groups.

Oncotarget

Gonzales, Mildred C MC; Grayson, James J; Lie, Amanda A; Yu, Chong Ho CH; Shiao, Shyang-Yun Pamela K SPK

Publication Date: 2018-06-26

Variant appearance in text: BRCA2: A2756G

PubMed Link: 30018733

Variant Present in the following documents:

• oncotarget-09-29019.pdf

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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: A2756G

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Biological Research

Jara, Lilian L; Morales, Sebastian S; de Mayo, Tomas T; Gonzalez-Hormazabal, Patricio P; Carrasco, Valentina V; Godoy, Raul R

Publication Date: 2017-10-06

Variant appearance in text: BRCA2: A2756G

PubMed Link: 28985766

Variant Present in the following documents:

• 40659_2017_Article_139.pdf

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State of Art of Cancer Pharmacogenomics in Latin American Populations.

International Journal Of Molecular Sciences

López-Cortés, Andrés A; Guerrero, Santiago S; Redal, María Ana MA; Alvarado, Angel Tito AT; Quiñones, Luis Abel LA

Publication Date: 2017-05-23

Variant appearance in text: BRCA2: A2756G

PubMed Link: 28545225

Variant Present in the following documents:

• ijms-18-00639.pdf

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Association of MTRR A66G polymorphism with cancer susceptibility: Evidence from 85 studies.

Journal Of Cancer

Wang, Ping P; Li, Sanqiang S; Wang, Meilin M; He, Jing J; Xi, Shoumin S

Publication Date: 2017

Variant appearance in text: BRCA2: A2756G

PubMed Link: 28243331

Variant Present in the following documents:

• jcav08p0266.pdf

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Ethnic background and genetic variation in the evaluation of cancer risk: a systematic review.

Plos One

Jing, Lijun L; Su, Li L; Ring, Brian Z BZ

Publication Date: 2014

Variant appearance in text: BRCA2: A2756G

PubMed Link: 24901479

Variant Present in the following documents:

• pone.0097522.pdf

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Association study of germline variants in CCNB1 and CDK1 with breast cancer susceptibility, progression, and survival among Chinese Han women.

Plos One

Li, Yan Y; Chen, Yi-Lin YL; Xie, Yun-Tao YT; Zheng, Li-Yuan LY; Han, Ji-Yuan JY; Wang, Hui H; Tian, Xin-Xia XX; Fang, Wei-Gang WG

Publication Date: 2013

Variant appearance in text: BRCA2: A2756G

PubMed Link: 24386390

Variant Present in the following documents:

• pone.0084489.pdf

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Methylenetetrahydrofolate reductase polymorphisms and breast cancer risk in Chinese population: a meta-analysis of 22 case-control studies.

Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine

Liang, Hongjie H; Yan, Yulan Y; Li, Taijie T; Li, Ruolin R; Li, Meng M; Li, Shan S; Qin, Xue X

Publication Date: 2014-02

Variant appearance in text: BRCA2: A2756G

PubMed Link: 24078451

Variant Present in the following documents:

• 13277_2013_Article_1234.pdf

View BVdb publication page

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An overview of genetic polymorphisms and pancreatic cancer risk in molecular epidemiologic studies.

Journal Of Epidemiology

Lin, Yingsong Y; Yagyu, Kiyoko K; Egawa, Naoto N; Ueno, Makoto M; Mori, Mitsuru M; Nakao, Haruhisa H; Ishii, Hiroshi H; Nakamura, Kozue K; Wakai, Kenji K; Hosono, Satoyo S; Tamakoshi, Akiko A; Kikuchi, Shogo S

Publication Date: 2011

Variant appearance in text: BRCA2: A2756G

PubMed Link: 21071884

Variant Present in the following documents:

• Main text
• je-21-002.pdf

View BVdb publication page

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