Publications:

---

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: 91T>C; Trp31Arg; rs80359182

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

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

---

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: W31R

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage.

Nature Communications

Kang, Zhihua Z; Fu, Pan P; Alcivar, Allen L AL; Fu, Haiqing H; Redon, Christophe C; Foo, Tzeh Keong TK; Zuo, Yamei Y; Ye, Caiyong C; Baxley, Ryan R; Madireddy, Advaitha A; Buisson, Remi R; Bielinsky, Anja-Katrin AK; Zou, Lee L; Shen, Zhiyuan Z; Aladjem, Mirit I MI; Xia, Bing B

Publication Date: 2021-10-13

Variant appearance in text: BRCA2: W31R

PubMed Link: 34645815

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26227.pdf

View BVdb publication page

---

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

---

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: W31R

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

---

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine

Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK

Publication Date: 2020-12-08

Variant appearance in text: BRCA2: 91T>C; W31R

PubMed Link: 33293522

Variant Present in the following documents:

• Main text
• 41525_2020_Article_158.pdf

View BVdb publication page

---

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>C; Trp31Arg

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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

---

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>C; Trp31Arg; rs80359182

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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>C; Trp31Arg

PubMed Link: 30410870

Variant Present in the following documents:

• Main text
• fonc-08-00480.pdf

View BVdb publication page

---

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: W31R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.

Wellcome Open Research

Bleuyard, Jean-Yves JY; Butler, Rosie M RM; Esashi, Fumiko F

Publication Date: 2017

Variant appearance in text: BRCA2: W31R

PubMed Link: 29387807

Variant Present in the following documents:

• Main text
• wellcomeopenres-2-14894.pdf

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: BRCA2: W31R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

---

Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.

Plos Genetics

Hartford, Suzanne A SA; Chittela, Rajanikant R; Ding, Xia X; Vyas, Aradhana A; Martin, Betty B; Burkett, Sandra S; Haines, Diana C DC; Southon, Eileen E; Tessarollo, Lino L; Sharan, Shyam K SK

Publication Date: 2016-08

Variant appearance in text: BRCA2: W31R

PubMed Link: 27490902

Variant Present in the following documents:

• Main text
• pgen.1006236.pdf

View BVdb publication page

---

Molding BRCA2 function through its interacting partners.

Cell Cycle (Georgetown, Tex.)

Martinez, Juan S JS; Baldeyron, Céline C; Carreira, Aura A

Publication Date: 2015

Variant appearance in text: BRCA2: W31R

PubMed Link: 26566862

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.

Molecular And Clinical Oncology

Balabanski, Lubomir L; Antov, Georgi G; Dimova, Ivanka I; Ivanov, Samuil S; Nacheva, Maria M; Gavrilov, Ivan I; Nesheva, Desislava D; Rukova, Blaga B; Hadjidekova, Savina S; Malinov, Maxim M; Toncheva, Draga D

Publication Date: 2014-05

Variant appearance in text: BRCA2: W31R

PubMed Link: 24772314

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Trp31Arg

PubMed Link: 24323938

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

Human Molecular Genetics

Biswas, Kajal K; Das, Ranabir R; Eggington, Julie M JM; Qiao, Huanyu H; North, Susan L SL; Stauffer, Stacey S; Burkett, Sandra S SS; Martin, Betty K BK; Southon, Eileen E; Sizemore, Scott C SC; Pruss, Dmitry D; Bowles, Karla R KR; Roa, Benjamin B BB; Hunter, Neil N; Tessarollo, Lino L; Wenstrup, Richard J RJ; Byrd, R Andrew RA; Sharan, Shyam K SK

Publication Date: 2012-09-15

Variant appearance in text: BRCA2: 91T>C; W31R

PubMed Link: 22678057

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Bmc Medical Genetics

Muller, Danièle D; Rouleau, Etienne E; Schultz, Inès I; Caputo, Sandrine S; Lefol, Cédrick C; Bièche, Ivan I; Caron, Olivier O; Noguès, Catherine C; Limacher, Jean Marc JM; Demange, Liliane L; Lidereau, Rosette R; Fricker, Jean Pierre JP; Abecassis, Joseph J

Publication Date: 2011-09-22

Variant appearance in text: BRCA2: Trp31Arg

PubMed Link: 21939546

Variant Present in the following documents:

• Main text
• 1471-2350-12-121.pdf

View BVdb publication page

---

Structural basis for recruitment of BRCA2 by PALB2.

Embo Reports

Oliver, Antony W AW; Swift, Sally S; Lord, Christopher J CJ; Ashworth, Alan A; Pearl, Laurence H LH

Publication Date: 2009-09

Variant appearance in text: BRCA2: W31R

PubMed Link: 19609323

Variant Present in the following documents:

• Main text

View BVdb publication page

---