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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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: rs80359182

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 91T>G; Trp31Gly

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s002.xlsx, sheet 2

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: W31G

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: rs80359182

PubMed Link: 34413315

Variant Present in the following documents:

• 41523_2021_317_MOESM1_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: BRCA2: W31G

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).

Bmc Cancer

El Ansari, Fatima Zahra FZ; Jouali, Farah F; Marchoudi, Nabila N; Bennani, Mohcine Mechita MM; Ghailani, Naima Nourouti NN; Barakat, Amina A; Fekkak, Jamal J

Publication Date: 2020-08-10

Variant appearance in text: BRCA2: Trp31Gly

PubMed Link: 32778078

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7250.pdf

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: 91T>G; Trp31Gly

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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Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review.

Hereditary Cancer In Clinical Practice

Coletta, Adriana M AM; Peterson, Susan K SK; Gatus, Leticia A LA; Krause, Kate J KJ; Schembre, Susan M SM; Gilchrist, Susan C SC; Arun, Banu B; You, Y Nancy YN; Rodriguez-Bigas, Miguel A MA; Strong, Larkin L LL; Lu, Karen H KH; Basen-Engquist, Karen K

Publication Date: 2020

Variant appearance in text: rs80359182

PubMed Link: 32165993

Variant Present in the following documents:

• Main text
• 13053_2020_Article_137.pdf

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: 91T>G; W31G; rs80359182

PubMed Link: 31911673

Variant Present in the following documents:

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

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: 91T>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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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science

Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M

Publication Date: 2020-02

Variant appearance in text: BRCA2: 91T>G; Trp31Gly

PubMed Link: 31742824

Variant Present in the following documents:

• CAS-111-647-s002.xlsx, sheet 1

View BVdb publication page

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A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Nucleic Acids Research

Rodrigue, Amélie A; Margaillan, Guillaume G; Torres Gomes, Thiago T; Coulombe, Yan Y; Montalban, Gemma G; da Costa E Silva Carvalho, Simone S; Milano, Larissa L; Ducy, Mandy M; De-Gregoriis, Giuliana G; Dellaire, Graham G; Araújo da Silva, Wilson W; Monteiro, Alvaro N AN; Carvalho, Marcelo A MA; Simard, Jacques J; Masson, Jean-Yves JY

Publication Date: 2019-11-18

Variant appearance in text: BRCA2: W31G

PubMed Link: 31586400

Variant Present in the following documents:

• Main text
• gkz780.pdf

View BVdb publication page

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Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.

Frontiers In Oncology

Caleca, Laura L; Catucci, Irene I; Figlioli, Gisella G; De Cecco, Loris L; Pesaran, Tina T; Ward, Maggie M; Volorio, Sara S; Falanga, Anna A; Marchetti, Marina M; Iascone, Maria M; Tondini, Carlo C; Zambelli, Alberto A; Azzollini, Jacopo J; Manoukian, Siranoush S; Radice, Paolo P; Peterlongo, Paolo P

Publication Date: 2018

Variant appearance in text: BRCA2: 91T>G; Trp31Gly

PubMed Link: 30410870

Variant Present in the following documents:

• Main text
• fonc-08-00480.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: W31G

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: BRCA2: 91T>G

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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