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: BRCA1: 5060T>G; Val1687Gly; rs1555579627

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine.

Frontiers In Oncology

De Paolis, Elisa E; Paris, Ida I; Tilocca, Bruno B; Roncada, Paola P; Foca, Laura L; Tiberi, Giordana G; D'Angelo, Tatiana T; Pavese, Francesco F; Muratore, Margherita M; Carbognin, Luisa L; Garganese, Giorgia G; Masetti, Riccardo R; Di Leone, Alba A; Fabi, Alessandra A; Scambia, Giovanni G; Urbani, Andrea A; Generali, Daniele D; Minucci, Angelo A; Santonocito, Concetta C

Publication Date: 2022

Variant appearance in text: BRCA1: Val1687Gly

PubMed Link: 36741700

Variant Present in the following documents:

• Main text
• fonc-12-1053035.pdf

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: BRCA1: V1687G

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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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: BRCA1: 5060T>G; V1687G

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One

Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E

Publication Date: 2021

Variant appearance in text: BRCA1: V1687G

PubMed Link: 34855882

Variant Present in the following documents:

• Main text
• pone.0260852.pdf

View BVdb publication page

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Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One

Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E

Publication Date: 2021

Variant appearance in text: BRCA1: V1687G

PubMed Link: 34855882

Variant Present in the following documents:

• Main text
• pone.0260852.pdf

View BVdb publication page

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Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Scientific Reports

Reza, Mahjerin Nasrin MN; Ferdous, Nadim N; Emon, Md Tabassum Hossain MTH; Islam, Md Shariful MS; Mohiuddin, A K M AKM; Hossain, Mohammad Uzzal MU

Publication Date: 2021-09-28

Variant appearance in text: BRCA1: V1687G; rs1555579627

PubMed Link: 34584144

Variant Present in the following documents:

• Main text
• 41598_2021_Article_98547.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: BRCA1: 5060T>G; Val1687Gly

PubMed Link: 34253785

Variant Present in the following documents:

• 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: BRCA1: 5060T>G; Val1687Gly

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: BRCA1: 5060T>G; Val1687Gly; rs1555579627

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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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5060T>G; V1687G

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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: BRCA1: V1687G

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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