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: 7529T>C; L2510P; rs80358979
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: 7529T>C; Leu2510Pro
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Hu, Chunling C; Susswein, Lisa R LR; Roberts, Maegan E ME; Yang, Hana H; Marshall, Megan L ML; Hiraki, Susan S; Berkofsky-Fessler, Windy W; Gupta, Sounak S; Shen, Wei W; Dunn, Carolyn A CA; Huang, Huaizhi H; Na, Jie J; Domchek, Susan M SM; Yadav, Siddhartha S; Monteiro, Alvaro N A ANA; Polley, Eric C EC; Hart, Steven N SN; Hruska, Kathleen S KS; Couch, Fergus J FJ
Publication Date: 2022-09-01
Variant appearance in text: BRCA2: 7529T>C; Leu2510Pro
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
American Journal Of Human Genetics
Richardson, Marcy E ME; Hu, Chunling C; Lee, Kun Y KY; LaDuca, Holly H; Fulk, Kelly K; Durda, Kate M KM; Deckman, Ashley M AM; Goldgar, David E DE; Monteiro, Alvaro N A ANA; Gnanaolivu, Rohan R; Hart, Steven N SN; Polley, Eric C EC; Chao, Elizabeth E; Pesaran, Tina T; Couch, Fergus J FJ
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: 7529T>C; L2510P
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
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
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
American Journal Of Human Genetics
Guidugli, Lucia L; Shimelis, Hermela H; Masica, David L DL; Pankratz, Vernon S VS; Lipton, Gary B GB; Singh, Namit N; Hu, Chunling C; Monteiro, Alvaro N A ANA; Lindor, Noralane M NM; Goldgar, David E DE; Karchin, Rachel R; Iversen, Edwin S ES; Couch, Fergus J FJ
Publication Date: 2018-02-01
Variant appearance in text: BRCA2: 7529T>C; Leu2510Pro
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; ,
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Cancer Research
Guidugli, Lucia L; Pankratz, Vernon S VS; Singh, Namit N; Thompson, James J; Erding, Catherine A CA; Engel, Christoph C; Schmutzler, Rita R; Domchek, Susan S; Nathanson, Katherine K; Radice, Paolo P; Singer, Christian C; Tonin, Patricia N PN; Lindor, Noralane M NM; Goldgar, David E DE; Couch, Fergus J FJ
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
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Blood
Biswas, Kajal K; Das, Ranabir R; Alter, Blanche P BP; Kuznetsov, Sergey G SG; Stauffer, Stacey S; North, Susan L SL; Burkett, Sandra S; Brody, Lawrence C LC; Meyer, Stefan S; Byrd, R Andrew RA; Sharan, Shyam K SK