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: 4841C>T; P1614L; rs766305255

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 4841C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: rs766305255

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.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: BRCA1: P1614L

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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Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications

Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS

Publication Date: 2022-01-26

Variant appearance in text: rs766305255

PubMed Link: 35082299

Variant Present in the following documents:

• 41467_2022_27987_MOESM20_ESM.xlsx, sheet 1

View BVdb publication page

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Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications

Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS

Publication Date: 2022-01-26

Variant appearance in text: rs766305255

PubMed Link: 35082299

Variant Present in the following documents:

• 41467_2022_27987_MOESM20_ESM.xlsx, sheet 1

View BVdb publication page

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Value of the loss of heterozygosity to BRCA1 variant classification.

Npj Breast Cancer

Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E

Publication Date: 2022-01-17

Variant appearance in text: BRCA1: 4841C>T; Pro1614Leu

PubMed Link: 35039532

Variant Present in the following documents:

• Main text
• 41523_2021_361_MOESM1_ESM.pdf
• 41523_2021_Article_361.pdf

View BVdb publication page

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Value of the loss of heterozygosity to BRCA1 variant classification.

Npj Breast Cancer

Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E

Publication Date: 2022-01-17

Variant appearance in text: BRCA1: 4841C>T; Pro1614Leu

PubMed Link: 35039532

Variant Present in the following documents:

• Main text
• 41523_2021_361_MOESM1_ESM.pdf
• 41523_2021_Article_361.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: 4841C>T; Pro1614Leu; rs766305255

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: 4841C>T; Pro1614Leu

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: 4841C>T; P1614L; rs766305255

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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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: P1614L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: BRCA1: P1614L

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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