BRCA1 c.2914G>A ;(p.G972R)

Variant ID: 17-41244634-C-T

NM_007294.3(BRCA1):c.2914G>A;(p.G972R)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: BRCA1: G972R
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
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Construction and Validation of a Protein Prognostic Model for Lung Squamous Cell Carcinoma.

International Journal Of Medical Sciences
Fang, Xisheng X; Liu, Xia X; Weng, Chengyin C; Wu, Yong Y; Li, Baoxiu B; Mao, Haibo H; Guan, Mingmei M; Lu, Lin L; Liu, Guolong G
Publication Date: 2020

Variant appearance in text: BRCA1: Gly972Arg
PubMed Link: 33162799
Variant Present in the following documents:
  • ijmsv17p2718.pdf
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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: BRCA1: 2914G>A; Gly972Arg
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pyrosequencing analysis of IRS1 methylation levels in schizophrenia with tardive dyskinesia.

Molecular Medicine Reports
Li, Yanli Y; Wang, Kesheng K; Zhang, Ping P; Huang, Junchao J; Liu, Ying Y; Wang, Zhiren Z; Lu, Yongke Y; Tan, Shuping S; Yang, Fude F; Tan, Yunlong Y
Publication Date: 2020-04

Variant appearance in text: BRCA1: G972R
PubMed Link: 32319643
Variant Present in the following documents:
  • mmr-21-04-1702.pdf
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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: BRCA1: G972R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Critical evaluation of the Illumina MethylationEPIC BeadChip microarray for whole-genome DNA methylation profiling.

Genome Biology
Pidsley, Ruth R; Zotenko, Elena E; Peters, Timothy J TJ; Lawrence, Mitchell G MG; Risbridger, Gail P GP; Molloy, Peter P; Van Djik, Susan S; Muhlhausler, Beverly B; Stirzaker, Clare C; Clark, Susan J SJ
Publication Date: 2016-10-07

Variant appearance in text: BRCA1: G972R
PubMed Link: 27717381
Variant Present in the following documents:
  • 13059_2016_Article_1066.pdf
View BVdb publication page



Genetic Variants in the Insulin-like Growth Factor Pathway and Colorectal Cancer Risk in the Netherlands Cohort Study.

Scientific Reports
Simons, Colinda C J M CC; Schouten, Leo J LJ; Godschalk, Roger W L RW; van Engeland, Manon M; van den Brandt, Piet A PA; van Schooten, Frederik J FJ; Weijenberg, Matty P MP
Publication Date: 2015-09-18

Variant appearance in text: BRCA1: G972R
PubMed Link: 26381944
Variant Present in the following documents:
View BVdb publication page



Lack of association between insulin receptor substrate2 rs1805097 polymorphism and the risk of colorectal and breast cancer: a meta-analysis.

Plos One
Hu, Yue Y; Zhou, Min M; Zhang, Kai K; Kong, Xiangquan X; Hu, Xiaoyan X; Li, Kang K; Liu, Li L
Publication Date: 2014

Variant appearance in text: BRCA1: G972R
PubMed Link: 24497996
Variant Present in the following documents:
  • pone.0086911.pdf
View BVdb publication page



Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer.

Oncology Reports
Esposito, Diana Liberata DL; Verginelli, Fabio F; Toracchio, Sonia S; Mammarella, Sandra S; De Lellis, Laura L; Vanni, Cinzia C; Russo, Antonio A; Mariani-Costantini, Renato R; Cama, Alessandro A
Publication Date: 2013-10

Variant appearance in text: BRCA1: Gly972Arg
PubMed Link: 23877285
Variant Present in the following documents:
  • Main text
  • or-30-04-1553.pdf
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A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Ding, Yuan C YC; McGuffog, Lesley L; Healey, Sue S; Friedman, Eitan E; Laitman, Yael Y; Paluch-Shimon, Shani- S; Kaufman, Bella B; , ; Liljegren, Annelie A; Lindblom, Annika A; Olsson, Håkan H; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Melin, Beatrice B; Domchek, Susan M SM; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Gronwald, Jacek J; Huzarski, Tomasz T; Cybulski, Cezary C; Byrski, Tomasz T; Osorio, Ana A; Cajal, Teresa Ramóny TR; Stavropoulou, Alexandra V AV; Benítez, Javier J; Hamann, Ute U; , ; Rookus, Matti M; Aalfs, Cora M CM; de Lange, Judith L JL; Meijers-Heijboer, Hanne E J HE; Oosterwijk, Jan C JC; van Asperen, Christi J CJ; Gómez García, Encarna B EB; Hoogerbrugge, Nicoline N; Jager, Agnes A; van der Luijt, Rob B RB; , ; Easton, Douglas F DF; Peock, Susan S; Frost, Debra D; Ellis, Steve D SD; Platte, Radka R; Fineberg, Elena E; Evans, D Gareth DG; Lalloo, Fiona F; Izatt, Louise L; Eeles, Ros R; Adlard, Julian J; Davidson, Rosemarie R; Eccles, Diana D; Cole, Trevor T; Cook, Jackie J; Brewer, Carole C; Tischkowitz, Marc M; Godwin, Andrew K AK; Pathak, Harsh H; , ; Stoppa-Lyonnet, Dominique D; Sinilnikova, Olga M OM; Mazoyer, Sylvie S; Barjhoux, Laure L; Léoné, Mélanie M; Gauthier-Villars, Marion M; Caux-Moncoutier, Virginie V; de Pauw, Antoine A; Hardouin, Agnès A; Berthet, Pascaline P; Dreyfus, Hélène H; Ferrer, Sandra Fert SF; Collonge-Rame, Marie-Agnès MA; Sokolowska, Johanna J; Buys, Saundra S; Daly, Mary M; Miron, Alex A; Terry, Mary Beth MB; Chung, Wendy W; John, Esther M EM; Southey, Melissa M; Goldgar, David D; Singer, Christian F CF; Tea, Muy-Kheng Maria MK; Gschwantler-Kaulich, Daphne D; Fink-Retter, Anneliese A; Hansen, Thomas V O TV; Ejlertsen, Bent B; Johannsson, Oskar T OT; Offit, Kenneth K; Sarrel, Kara K; Gaudet, Mia M MM; Vijai, Joseph J; Robson, Mark M; Piedmonte, Marion R MR; Andrews, Lesley L; Cohn, David D; DeMars, Leslie R LR; DiSilvestro, Paul P; Rodriguez, Gustavo G; Toland, Amanda Ewart AE; Montagna, Marco M; Agata, Simona S; Imyanitov, Evgeny E; Isaacs, Claudine C; Janavicius, Ramunas R; Lazaro, Conxi C; Blanco, Ignacio I; Ramus, Susan J SJ; Sucheston, Lara L; Karlan, Beth Y BY; Gross, Jenny J; Ganz, Patricia A PA; Beattie, Mary S MS; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Meindl, Alfons A; Arnold, Norbert N; Niederacher, Dieter D; Preisler-Adams, Sabine S; Gadzicki, Dorotehea D; Varon-Mateeva, Raymonda R; Deissler, Helmut H; Gehrig, Andrea A; Sutter, Christian C; Kast, Karin K; Nevanlinna, Heli H; Aittomäki, Kristiina K; Simard, Jacques J; , ; Spurdle, Amanda B AB; Beesley, Jonathan J; Chen, Xiaoqing X; Tomlinson, Gail E GE; Weitzel, Jeffrey J; Garber, Judy E JE; Olopade, Olufunmilayo I OI; Rubinstein, Wendy S WS; Tung, Nadine N; Blum, Joanne L JL; Narod, Steven A SA; Brummel, Sean S; Gillen, Daniel L DL; Lindor, Noralane N; Fredericksen, Zachary Z; Pankratz, Vernon S VS; Couch, Fergus J FJ; Radice, Paolo P; Peterlongo, Paolo P; Greene, Mark H MH; Loud, Jennifer T JT; Mai, Phuong L PL; Andrulis, Irene L IL; Glendon, Gord G; Ozcelik, Hilmi H; , ; Gerdes, Anne-Marie AM; Thomassen, Mads M; Jensen, Uffe Birk UB; Skytte, Anne-Bine AB; Caligo, Maria A MA; Lee, Andrew A; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Neuhausen, Susan L SL; ,
Publication Date: 2012-08

Variant appearance in text: BRCA1: Gly972Arg
PubMed Link: 22729394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.

Breast Cancer Research : Bcr
Neuhausen, Susan L SL; Brummel, Sean S; Ding, Yuan Chun YC; Singer, Christian F CF; Pfeiler, Georg G; Lynch, Henry T HT; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Garber, Judy E JE; Couch, Fergus F; Weitzel, Jeffrey J; Narod, Steven A SA; Ganz, Patricia A PA; Daly, Mary B MB; Godwin, Andrew K AK; Isaacs, Claudine C; Olopade, Olufunmilayo I OI; Tomlinson, Gail G; Rubinstein, Wendy S WS; Tung, Nadine N; Blum, Joanne L JL; Gillen, Daniel L DL
Publication Date: 2009

Variant appearance in text: BRCA1: G972R
PubMed Link: 19843326
Variant Present in the following documents:
  • Main text
  • bcr2414.pdf
View BVdb publication page