BRCA2 c.1568A>G ;(p.H523R)

Variant ID: 13-32907183-A-G

NM_000059.3(BRCA2):c.1568A>G;(p.H523R)

This variant was identified in 34 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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology
He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W
Publication Date: 2023

Variant appearance in text: BRCA2: 1568A>G; H523R; rs80358443
PubMed Link: 36910641
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 8
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: rs80358443
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: H523R; rs80358443
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 1568A>G; His523Arg
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: BRCA2: H523R
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.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: H523R
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.

International Journal Of General Medicine
Luo, Yu Y; Wu, Heming H; Huang, Qingyan Q; Rao, Hui H; Yu, Zhikang Z; Zhong, Zhixiong Z
Publication Date: 2022

Variant appearance in text: BRCA2: 1568A>G
PubMed Link: 35300142
Variant Present in the following documents:
  • Main text
  • ijgm-15-2773.pdf
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: BRCA2: 1568A>G; H523R; rs80358443
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine
Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N
Publication Date: 2022-02-25

Variant appearance in text: BRCA2: 1568A>G
PubMed Link: 35209950
Variant Present in the following documents:
  • 13073_2022_1027_MOESM22_ESM.xls, sheet 1
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: BRCA2: 1568A>G; H523R
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

World Journal Of Gastroenterology
Gu, Guo-Li GL; Zhang, Zhi Z; Zhang, Yu-Hui YH; Yu, Peng-Fei PF; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR; Yuan, Ying Y
Publication Date: 2021-10-21

Variant appearance in text: BRCA2: 1568A>G; H523R
PubMed Link: 34754157
Variant Present in the following documents:
  • Main text
  • WJG-27-6631.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: 1568A>G; His523Arg; rs80358443
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.

Scientific Reports
Kim, Joo Heung JH; Park, Sunggyun S; Park, Hyung Seok HS; Park, Ji Soo JS; Lee, Seung-Tae ST; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Noh, Woo-Chul WC; Choi, Doo Ho DH; Han, Wonshik W; Jung, Sung Hoo SH
Publication Date: 2021-04-19

Variant appearance in text: BRCA2: 1568A>G; His523Arg; rs80358443
PubMed Link: 33875706
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_87792.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: BRCA2: H523R
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: BRCA2: 1568A>G; H523R
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population.

Biomed Research International
Jiang, Yue Y; Tian, Ting T; Yu, Chengxiao C; Zhou, Wen W; Yang, Junzhe J; Wang, Yifeng Y; Wen, Yang Y; Chen, Jiaping J; Dai, Juncheng J; Jin, Guangfu G; Ma, Hongxia H; Shen, Hongbing H; Hu, Zhibin Z
Publication Date: 2020

Variant appearance in text: BRCA2: 1568A>G
PubMed Link: 32879886
Variant Present in the following documents:
  • Main text
  • BMRI2020-6739823.pdf
View BVdb publication page



Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.

Cancers
Hur, Joon Young JY; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Lee, Jiyun J; Kwon, Minsuk M; Park, Yeon Hee YH
Publication Date: 2020-05-21

Variant appearance in text: BRCA2: 1568A>G; His523Arg
PubMed Link: 32455662
Variant Present in the following documents:
  • Main text
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: 1568A>G; His523Arg
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer.

Frontiers In Oncology
You, Yan Y; Li, Lei L; Lu, Junliang J; Wu, Huanwen H; Wang, Jing J; Gao, Jie J; Wu, Ming M; Liang, Zhiyong Z
Publication Date: 2020

Variant appearance in text: BRCA2: 1568A>G
PubMed Link: 32211327
Variant Present in the following documents:
  • Main text
  • fonc-10-00295.pdf
View BVdb publication page



Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24

Variant appearance in text: BRCA2: 1568A>G; His523Arg; rs80358443
PubMed Link: 32091409
Variant Present in the following documents:
  • aging-12-102783-s001..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: N/A
PubMed Link: 31911673
Variant Present in the following documents:
View BVdb publication page



YAP1 amplification as a prognostic factor of definitive chemoradiotherapy in nonsurgical esophageal squamous cell carcinoma.

Cancer Medicine
Dai, Honghai H; Shao, Yang W YW; Tong, Xiaoling X; Wu, Xue X; Pang, Jiaohui J; Feng, Alei A; Yang, Zhe Z
Publication Date: 2020-03

Variant appearance in text: BRCA2: H523R
PubMed Link: 31851786
Variant Present in the following documents:
  • CAM4-9-1628-s002.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: 1568A>G; H523R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.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: 1568A>G; His523Arg
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: BRCA2: 1568A>G; His523Arg; rs80358443
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s005.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: BRCA2: 1568A>G; His523Arg; rs80358443
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
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: 1568A>G; H523R
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: H523R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: BRCA2: H523R
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.xls, sheet 1
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: 1568A>G; His523Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.

Bmc Cancer
Lai, Kah Nyin KN; Ho, Weang Kee WK; Kang, In Nee IN; Kang, Peter Choon Eng PC; Phuah, Sze Yee SY; Mariapun, Shivaani S; Yip, Cheng-Har CH; Mohd Taib, Nur Aishah NA; Teo, Soo-Hwang SH
Publication Date: 2017-02-22

Variant appearance in text: BRCA2: His523Arg
PubMed Link: 28222693
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3099.pdf
View BVdb publication page



Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.

Bmc Cancer
Cao, Wen-Ming WM; Gao, Yun Y; Yang, Hong-Jian HJ; Xie, Shang-Nao SN; Ding, Xiao-Wen XW; Pan, Zhi-Wen ZW; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ
Publication Date: 2016-02-06

Variant appearance in text: BRCA2: H523R
PubMed Link: 26852015
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2107.pdf
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: BRCA2: 1568A>G; H523R
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 5
View BVdb publication page