BRCA2 c.7529T>C ;(p.L2510P)

Variant ID: 13-32930658-T-C

NM_000059.3(BRCA2):c.7529T>C;(p.L2510P)

This variant was identified in 30 publications

View GRCh38 version.




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: 7529T>C; L2510P; rs80358979
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: BRCA2: L2510P
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: rs80358979
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
View BVdb publication page



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: 7529T>C; Leu2510Pro; rs80358979
PubMed Link: 36385461
Variant Present in the following documents:
  • 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
  • IJC-152-1159-s006.xlsx, sheet 3
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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
PubMed Link: 35736817
Variant Present in the following documents:
  • Main text
  • 3742.pdf
  • ccr-22-0203_supplementary_table_2_suppts2.xlsx, sheet 1
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: L2510P
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BRCA2-DSS1 interaction is dispensable for RAD51 recruitment at replication-induced and meiotic DNA double strand breaks.

Nature Communications
Mishra, Arun Prakash AP; Hartford, Suzanne A SA; Sahu, Sounak S; Klarmann, Kimberly K; Chittela, Rajani Kant RK; Biswas, Kajal K; Jeon, Albert B AB; Martin, Betty K BK; Burkett, Sandra S; Southon, Eileen E; Reid, Susan S; Albaugh, Mary E ME; Karim, Baktiar B; Tessarollo, Lino L; Keller, Jonathan R JR; Sharan, Shyam K SK
Publication Date: 2022-04-01

Variant appearance in text: BRCA2: Leu2510Pro
PubMed Link: 35365640
Variant Present in the following documents:
  • Main text
  • 41467_2022_29409_MOESM2_ESM.pdf
  • 41467_2022_29409_MOESM1_ESM.pdf
  • 41467_2022_Article_29409.pdf
View BVdb publication page



Clinical consequences of BRCA2 hypomorphism.

Npj Breast Cancer
Castells-Roca, Laia L; Gutiérrez-Enríquez, Sara S; Bonache, Sandra S; Bogliolo, Massimo M; Carrasco, Estela E; Aza-Carmona, Miriam M; Montalban, Gemma G; Muñoz-Subirana, Núria N; Pujol, Roser R; Cruz, Cristina C; Llop-Guevara, Alba A; Ramírez, María J MJ; Saura, Cristina C; Lasa, Adriana A; Serra, Violeta V; Diez, Orland O; Balmaña, Judith J; Surrallés, Jordi J
Publication Date: 2021-09-09

Variant appearance in text: BRCA2: Leu2510Pro
PubMed Link: 34504103
Variant Present in the following documents:
  • Main text
  • 41523_2021_Article_322.pdf
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: 7529T>C; L2510P; rs80358979
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA2: L2510P
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2021-03-04

Variant appearance in text: BRCA2: Leu2510Pro
PubMed Link: 33609447
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page



Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Genes
Lovejoy, Leann A LA; Turner, Clesson E CE; Wells, Justin M JM; Shriver, Craig D CD; Ellsworth, Rachel E RE
Publication Date: 2020-12-08

Variant appearance in text: BRCA2: Leu2510Pro
PubMed Link: 33302456
Variant Present in the following documents:
  • Main text
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: 7529T>C; L2510P
PubMed Link: 33293522
Variant Present in the following documents:
  • Main text
  • 41525_2020_Article_158.pdf
View BVdb publication page



Olaparib combined with immunotherapy for treating a patient with liver cancer carrying BRCA2 germline mutation: A case report.

Medicine
Zhao, Fengjiao F; Zhou, Yong Y; Seesaha, Poshita Kumari PK; Zhang, Yihong Y; Liu, Siqin S; Gan, Xiaoyan X; Hu, Jun J; Gu, Yanhong Y; Chen, Xiaofeng X
Publication Date: 2020-09-18

Variant appearance in text: BRCA2: L2510P
PubMed Link: 32957395
Variant Present in the following documents:
  • Main text
  • medi-99-e22312.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: 7529T>C; Leu2510Pro
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes.

Molecular Biology Research Communications
Yadegari, Fatemeh F; Majidzadeh, Keivan K
Publication Date: 2019-12

Variant appearance in text: BRCA2: Leu2510Pro
PubMed Link: 32042831
Variant Present in the following documents:
  • Main text
  • mbrc-8-141.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: 7529T>C; Leu2510Pro; rs80358979
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



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: 7529T>C
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
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: L2510P
PubMed Link: 29884841
Variant Present in the following documents:
  • Main text
  • nihms-953431.pdf
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



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
PubMed Link: 29394989
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 7529T>C; Leu2510Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: Leu2510Pro
PubMed Link: 24323938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

European Journal Of Human Genetics : Ejhg
Degrolard-Courcet, Emilie E; Sokolowska, Joanna J; Padeano, Marie-Martine MM; Guiu, Séverine S; Bronner, Myriam M; Chery, Carole C; Coron, Fanny F; Lepage, Côme C; Chapusot, Caroline C; Loustalot, Catherine C; Jouve, Jean-Louis JL; Hatem, Cyril C; Ferrant, Emmanuelle E; Martin, Laurent L; Coutant, Charles C; Baurand, Amandine A; Couillault, Gérard G; Delignette, Alexandra A; El Chehadeh, Salima S; Lizard, Sarab S; Arnould, Laurent L; Fumoleau, Pierre P; Callier, Patrick P; Mugneret, Francine F; Philippe, Christophe C; Frebourg, Thierry T; Jonveaux, Philippe P; Faivre, Laurence L
Publication Date: 2014-08

Variant appearance in text: BRCA2: 7529T>C
PubMed Link: 24301060
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2013-01-01

Variant appearance in text: BRCA2: L2510P
PubMed Link: 23108138
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: L2510P
PubMed Link: 22678057
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2011-09-01

Variant appearance in text: BRCA2: L2510P
PubMed Link: 21719596
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: BRCA2: L2510P
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 5
View BVdb publication page



Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Cancer Informatics
Karchin, Rachel R; Agarwal, Mukesh M; Sali, Andrej A; Couch, Fergus F; Beattie, Mary S MS
Publication Date: 2008

Variant appearance in text: BRCA2: L2510P
PubMed Link: 19043619
Variant Present in the following documents:
  • cin-6-0203-s1.pdf
View BVdb publication page



Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Journal Of Medical Genetics
Alter, Blanche P BP; Rosenberg, Philip S PS; Brody, Lawrence C LC
Publication Date: 2007-01

Variant appearance in text: BRCA2: L2510P
PubMed Link: 16825431
Variant Present in the following documents:
  • Main text
View BVdb publication page