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: BRCA2: 8969G>A; Trp2990Ter; rs80359148

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: BRCA2: 8969G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA2: 8969G>A; Trp2990Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA2: 8969G>A

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

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: 8969G>A; Trp2990*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 2
• IJC-152-1159-s002.xlsx, sheet 2

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Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Bmc Cancer

Brahim, Selma Mohamed SM; Zein, Ekht Elbenina EE; Bonnet, Crystel C; Hamed, Cheikh Tijani CT; Salame, Malak M; Zein, Mohamed Vall MV; Khyatti, Meriem M; Tolba, Ahmedou A; Houmeida, Ahmed A

Publication Date: 2022-07-20

Variant appearance in text: BRCA2: Trp2990Ter; rs80359148

PubMed Link: 35858847

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9903.pdf

View BVdb publication page

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The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Cancer Biology & Medicine

Dong, Li L; Zhang, Hailian H; Zhang, Huan H; Ye, Yingnan Y; Cheng, Yanan Y; Li, Lijuan L; Wei, Lijuan L; Han, Lei L; Cao, Yandong Y; Li, Shixia S; Hao, Xishan X; Liu, Juntian J; Yu, Jinpu J

Publication Date: 2021-09-28

Variant appearance in text: BRCA2: Trp2990Ter

PubMed Link: 34570441

Variant Present in the following documents:

• Main text
• cbm-19-850-s001.pdf
• cbm-19-850.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: BRCA2: 8969G>A; Trp2990Ter; rs80359148

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.

Diagnostics (Basel, Switzerland)

Sun, Woo Young WY; Lee, Jina J; Kim, Bong Kyun BK; Kim, Jong Ok JO; Park, Joonhong J

Publication Date: 2021-03-01

Variant appearance in text: BRCA2: 8969G>A; Trp2990*; rs80359148

PubMed Link: 33804295

Variant Present in the following documents:

• diagnostics-11-00416-s001.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: 8969G>A; Trp2990X

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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Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Yadav, Siddhartha S; Hu, Chunling C; Hart, Steven N SN; Boddicker, Nicholas N; Polley, Eric C EC; Na, Jie J; Gnanaolivu, Rohan R; Lee, Kun Y KY; Lindstrom, Tricia T; Armasu, Sebastian S; Fitz-Gibbon, Patrick P; Ghosh, Karthik K; Stan, Daniela L DL; Pruthi, Sandhya S; Neal, Lonzetta L; Sandhu, Nicole N; Rhodes, Deborah J DJ; Klassen, Christine C; Peethambaram, Prema P PP; Haddad, Tufia C TC; Olson, Janet E JE; Hoskin, Tanya L TL; Goetz, Matthew P MP; Domchek, Susan M SM; Boughey, Judy C JC; Ruddy, Kathryn J KJ; Couch, Fergus J FJ

Publication Date: 2020-05-01

Variant appearance in text: BRCA2: Trp2990X

PubMed Link: 32125938

Variant Present in the following documents:

• JCO.19.02190.pdf

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: 8969G>A

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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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 8969G>A; Trp2990X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 8969G>A; Trp2990Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: BRCA2: 8969G>A; W2990*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation

Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2016-07

Variant appearance in text: BRCA2: 8969G>A; W2990*

PubMed Link: 26913838

Variant Present in the following documents:

• HUMU-37-627-s002.xlsx, sheet 1
• HUMU-37-627-s001.xlsx, sheet 1

View BVdb publication page

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Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

Breast Cancer Research And Treatment

Ellingson, Marissa S MS; Hart, Steven N SN; Kalari, Krishna R KR; Suman, Vera V; Schahl, Kimberly A KA; Dockter, Travis J TJ; Felten, Sara J SJ; Sinnwell, Jason P JP; Thompson, Kevin J KJ; Tang, Xiaojia X; Vedell, Peter T PT; Barman, Poulami P; Sicotte, Hugues H; Eckel-Passow, Jeanette E JE; Northfelt, Donald W DW; Gray, Richard J RJ; McLaughlin, Sarah A SA; Moreno-Aspitia, Alvaro A; Ingle, James N JN; Moyer, Ann M AM; Visscher, Daniel W DW; Jones, Katie K; Conners, Amy A; McDonough, Michelle M; Wieben, Eric D ED; Wang, Liewei L; Weinshilboum, Richard R; Boughey, Judy C JC; Goetz, Matthew P MP

Publication Date: 2015-09

Variant appearance in text: BRCA2: 8969G>A; W2990X

PubMed Link: 26296701

Variant Present in the following documents:

• Main text
• 10549_2015_Article_3545.pdf

View BVdb publication page

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A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Cancer

Pal, Tuya T; Bonner, Devon D; Cragun, Deborah D; Monteiro, Alvaro N A AN; Phelan, Catherine C; Servais, Lily L; Kim, Jongphil J; Narod, Steven A SA; Akbari, Mohammad R MR; Vadaparampil, Susan T ST

Publication Date: 2015-12-01

Variant appearance in text: BRCA2: 8969G>A

PubMed Link: 26287763

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

Human Mutation

Acedo, Alberto A; Hernández-Moro, Cristina C; Curiel-García, Álvaro Á; Díez-Gómez, Beatriz B; Velasco, Eladio A EA

Publication Date: 2015-02

Variant appearance in text: BRCA2: 8969G>A

PubMed Link: 25382762

Variant Present in the following documents:

• Main text
• humu0036-0210.pdf

View BVdb publication page

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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Breast Cancer Research : Bcr

Acedo, Alberto A; Sanz, David J DJ; Durán, Mercedes M; Infante, Mar M; Pérez-Cabornero, Lucía L; Miner, Cristina C; Velasco, Eladio A EA

Publication Date: 2012-05-25

Variant appearance in text: BRCA2: 8969G>A; W2990X

PubMed Link: 22632462

Variant Present in the following documents:

• Main text
• bcr3202.pdf

View BVdb publication page

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