BRCA2 c.1804G>A ;(p.G602R)

Variant ID: 13-32907419-G-A

NM_000059.3(BRCA2):c.1804G>A;(p.G602R)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


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: G602R
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
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: rs80358466
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: BRCA2: G602R; rs80358466
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.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: N/A
PubMed Link: 35729312
Variant Present in the following documents:
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: BRCA2: 1804G>A; Gly602Arg; rs80358466
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Scientific Reports
Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM
Publication Date: 2021-10-18

Variant appearance in text: BRCA2: 1804G>A
PubMed Link: 34663891
Variant Present in the following documents:
  • 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1
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: 1804G>A; Gly602Arg; rs80358466
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



The genomic landscapes of individual melanocytes from human skin.

Nature
Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH
Publication Date: 2020-10

Variant appearance in text: rs80358466
PubMed Link: 33029006
Variant Present in the following documents:
  • NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 2
View BVdb publication page



High-throughput functional evaluation of BRCA2 variants of unknown significance.

Nature Communications
Ikegami, Masachika M; Kohsaka, Shinji S; Ueno, Toshihide T; Momozawa, Yukihide Y; Inoue, Satoshi S; Tamura, Kenji K; Shimomura, Akihiko A; Hosoya, Noriko N; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2020-05-22

Variant appearance in text: BRCA2: G602R
PubMed Link: 32444794
Variant Present in the following documents:
  • 41467_2020_16141_MOESM1_ESM.pdf
  • 41467_2020_16141_MOESM5_ESM.xlsx, sheet 1
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: 1804G>A; Gly602Arg
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: BRCA2: 1804G>A; Gly602Arg
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s008.xlsx, sheet 1
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,
Publication Date: 2020-06

Variant appearance in text: BRCA2: 1804G>A; Gly602Arg; rs80358466
PubMed Link: 32123317
Variant Present in the following documents:
  • 41436_2020_766_MOESM3_ESM.xlsx, sheet 1
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: 1804G>A; Gly602Arg; rs80358466
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



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: BRCA2: 1804G>A; G602R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: BRCA2: G602R
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



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: 1804G>A; Gly602Arg
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: BRCA2: 1804G>A; G602R
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
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: G602R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: BRCA2: 1804G>A; Gly602Arg; rs80358466
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Bmc Medical Genomics
Ernst, Corinna C; Hahnen, Eric E; Engel, Christoph C; Nothnagel, Michael M; Weber, Jonas J; Schmutzler, Rita K RK; Hauke, Jan J
Publication Date: 2018-03-27

Variant appearance in text: BRCA2: G602R
PubMed Link: 29580235
Variant Present in the following documents:
  • 12920_2018_353_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

Cancer
Chandrasekharappa, Settara C SC; Chinn, Steven B SB; Donovan, Frank X FX; Chowdhury, Naweed I NI; Kamat, Aparna A; Adeyemo, Adebowale A AA; Thomas, James W JW; Vemulapalli, Meghana M; Hussey, Caroline S CS; Reid, Holly H HH; Mullikin, James C JC; Wei, Qingyi Q; Sturgis, Erich M EM
Publication Date: 2017-10-15

Variant appearance in text: BRCA2: 1804G>A
PubMed Link: 28678401
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: 1804G>A; Gly602Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics
Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2015-05-07

Variant appearance in text: BRCA2: G602R
PubMed Link: 25948282
Variant Present in the following documents:
  • Main text
  • 12920_2015_Article_92.pdf
View BVdb publication page



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: BRCA2: G602R
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
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: 1804G>A
PubMed Link: 24323938
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Human Mutation
Lindor, Noralane M NM; Guidugli, Lucia L; Wang, Xianshu X; Vallée, Maxime P MP; Monteiro, Alvaro N A AN; Tavtigian, Sean S; Goldgar, David E DE; Couch, Fergus J FJ
Publication Date: 2012-01

Variant appearance in text: BRCA2: 1804G>A; G602R
PubMed Link: 21990134
Variant Present in the following documents:
  • Main text
View BVdb publication page



The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Bmc Medical Genetics
Stegel, Vida V; Krajc, Mateja M; Zgajnar, Janez J; Teugels, Erik E; De Grève, Jacques J; Hočevar, Marko M; Novaković, Srdjan S
Publication Date: 2011-01-14

Variant appearance in text: BRCA2: 1804G>A; G602R
PubMed Link: 21232165
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-9.pdf
View BVdb publication page



Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.

Hawaii Medical Journal
Carney, Michael E ME; Basiliere, Michele S MS; Mates, Kiley K; Sing, Christina K CK
Publication Date: 2010-11

Variant appearance in text: N/A
PubMed Link: 21218378
Variant Present in the following documents:
View BVdb publication page



Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Breast Cancer Research : Bcr
Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G
Publication Date: 2008

Variant appearance in text: BRCA2: G602R
PubMed Link: 18284688
Variant Present in the following documents:
View BVdb publication page



A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

American Journal Of Human Genetics
Easton, Douglas F DF; Deffenbaugh, Amie M AM; Pruss, Dmitry D; Frye, Cynthia C; Wenstrup, Richard J RJ; Allen-Brady, Kristina K; Tavtigian, Sean V SV; Monteiro, Alvaro N A AN; Iversen, Edwin S ES; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2007-11

Variant appearance in text: N/A
PubMed Link: 17924331
Variant Present in the following documents:
View BVdb publication page