BRCA2 c.4427A>G ;(p.D1476G)

Variant ID: 13-32912919-A-G

NM_000059.3(BRCA2):c.4427A>G;(p.D1476G)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


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: rs745425169
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: D1476G; rs745425169
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: 4427A>G; Asp1476Gly; rs745425169
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



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: D1476G
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
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: 4427A>G; D1476G; rs745425169
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.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: FANCD1: D1476G
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: D1476G
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology
Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC
Publication Date: 2020-11

Variant appearance in text: BRCA2: 4427A>G; Asp1476Gly
PubMed Link: 33078592
Variant Present in the following documents:
  • Main text
  • jgo-31-e83-s007.xls, sheet 1
  • jgo-31-e83.pdf
  • jgo-31-e83-s008.xls, sheet 1
  • jgo-31-e83-s009.xls, 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: 4427A>G; Asp1476Gly
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_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: 4427A>G; D1476G; rs745425169
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: 4427A>G
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Pathogenic germline BRCA1/2 mutations and familial predisposition to gastric cancer.

Jco Precision Oncology
Ichikawa, Hiroshi H; Wakai, Toshifumi T; Nagahashi, Masayuki M; Shimada, Yoshifumi Y; Hanyu, Takaaki T; Kano, Yosuke Y; Muneoka, Yusuke Y; Ishikawa, Takashi T; Takizawa, Kazuyasu K; Tajima, Yosuke Y; Sakata, Jun J; Kobayashi, Takashi T; Kemeyama, Hitoshi H; Yabusaki, Hiroshi H; Nakagawa, Satoru S; Sato, Nobuaki N; Kawasaki, Takashi T; Homma, Keiichi K; Okuda, Shujiro S; Lyle, Stephen S; Takabe, Kazuaki K
Publication Date: 2018

Variant appearance in text: BRCA2: 4427A>G; D1476G
PubMed Link: 31608315
Variant Present in the following documents:
  • Main text
  • PO.18.00097.pdf
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: 4427A>G; Asp1476Gly; rs745425169
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, 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: D1476G
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics
Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S
Publication Date: 2018-04

Variant appearance in text: BRCA2: 4427A>G; Asp1476Gly
PubMed Link: 29176636
Variant Present in the following documents:
  • Main text
  • 10038_2017_Article_355.pdf
View BVdb publication page



Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics
Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S
Publication Date: 2018-04

Variant appearance in text: BRCA2: 4427A>G; Asp1476Gly
PubMed Link: 29176636
Variant Present in the following documents:
  • Main text
  • 10038_2017_Article_355.pdf
View BVdb publication page



BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations.

Oncotarget
Deihimi, Safoora S; Lev, Avital A; Slifker, Michael M; Shagisultanova, Elena E; Xu, Qifang Q; Jung, Kyungsuk K; Vijayvergia, Namrata N; Ross, Eric A EA; Xiu, Joanne J; Swensen, Jeffrey J; Gatalica, Zoran Z; Andrake, Mark M; Dunbrack, Roland L RL; El-Deiry, Wafik S WS
Publication Date: 2017-06-20

Variant appearance in text: BRCA2: 4427A>G; D1476G
PubMed Link: 28591715
Variant Present in the following documents:
  • Main text
  • oncotarget-08-39945.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: BRCA2: 4427A>G; D1476G
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: BRCA2: D1476G
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page