BRCA1 c.4232T>C ;(p.M1411T)

Variant ID: 17-41234546-A-G

NM_007294.3(BRCA1):c.4232T>C;(p.M1411T)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Genome Medicine
Nacer, Deborah F DF; Vallon-Christersson, Johan J; Nordborg, Nicklas N; Ehrencrona, Hans H; Kvist, Anders A; Borg, Åke Å; Staaf, Johan J
Publication Date: 2023-04-14

Variant appearance in text: BRCA1: 4232T>C; Met1411Thr
PubMed Link: 37060015
Variant Present in the following documents:
  • 13073_2023_1177_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



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: BRCA1: 4232T>C; Met1411Thr; rs273900729
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: BRCA1: M1411T
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: BRCA1: M1411T
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 2
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: BRCA1: M1411T
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine
Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA
Publication Date: 2022-06-03

Variant appearance in text: BRCA1: M1411T
PubMed Link: 35665744
Variant Present in the following documents:
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
  • 41525_2022_Article_302.pdf
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05

Variant appearance in text: BRCA1: M1411T
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263_TableS5.xlsx, sheet 2
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: BRCA1: 4232T>C; Met1411Thr; rs273900729
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lyra, Paulo C M PCM; Nepomuceno, Thales C TC; de Souza, Marcele L M MLM; Machado, Géssica F GF; Veloso, Mariana F MF; Henriques, Taciane B TB; Dos Santos, Diandra Z DZ; Ribeiro, Iuly G IG; Ribeiro, Roberto S RS; Rangel, Leticia B A LBA; Richardson, Marcy M; Iversen, Edwin S ES; Goldgar, David D; Couch, Fergus J FJ; Carvalho, Marcelo A MA; Monteiro, Alvaro N A ANA
Publication Date: 2021-02

Variant appearance in text: BRCA1: M1411T
PubMed Link: 33087888
Variant Present in the following documents:
  • 41436_2020_991_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Brca1 mutations in the coiled-coil domain impede Rad51 loading on DNA and mouse development.

Molecular & Cellular Oncology
Krais, J J JJ; Johnson, N N
Publication Date: 2020

Variant appearance in text: BRCA1: M1411T
PubMed Link: 32944641
Variant Present in the following documents:
  • Main text
  • KMCO_7_1786345.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: BRCA1: 4232T>C; Met1411Thr
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: BRCA1: 4232T>C; M1411T; rs273900729
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.

Frontiers In Oncology
Caleca, Laura L; Catucci, Irene I; Figlioli, Gisella G; De Cecco, Loris L; Pesaran, Tina T; Ward, Maggie M; Volorio, Sara S; Falanga, Anna A; Marchetti, Marina M; Iascone, Maria M; Tondini, Carlo C; Zambelli, Alberto A; Azzollini, Jacopo J; Manoukian, Siranoush S; Radice, Paolo P; Peterlongo, Paolo P
Publication Date: 2018

Variant appearance in text: BRCA1: 4232T>C; Met1411Thr
PubMed Link: 30410870
Variant Present in the following documents:
  • Main text
  • fonc-08-00480.pdf
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: BRCA1: M1411T
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Npj Genomic Medicine
Woods, Nicholas T NT; Baskin, Rebekah R; Golubeva, Volha V; Jhuraney, Ankita A; De-Gregoriis, Giuliana G; Vaclova, Tereza T; Goldgar, David E DE; Couch, Fergus J FJ; Carvalho, Marcelo Alex MA; Iversen, Edwin S ES; Monteiro, Alvaro Na AN
Publication Date: 2016

Variant appearance in text: BRCA1: M1411T
PubMed Link: 28781887
Variant Present in the following documents:
  • Main text
  • npjgenmed20161.pdf
View BVdb publication page



Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.

Elife
Anantha, Rachel W RW; Simhadri, Srilatha S; Foo, Tzeh Keong TK; Miao, Susanna S; Liu, Jingmei J; Shen, Zhiyuan Z; Ganesan, Shridar S; Xia, Bing B
Publication Date: 2017-04-11

Variant appearance in text: BRCA1: 4232T>C; M1411T
PubMed Link: 28398198
Variant Present in the following documents:
  • Main text
  • elife-21350-fig1-data1.xlsx, sheet 1
  • elife-21350.pdf
  • elife-21350-fig3-data1.xlsx, sheet 1
  • elife-21350-fig2-data1.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: BRCA1: M1411T
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: BRCA1: M1411T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Plos One
Carvalho, Renato S RS; Abreu, Renata B V RB; Velkova, Aneliya A; Marsillac, Sylvia S; Rodarte, Renato S RS; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Monteiro, Alvaro N A AN; Carvalho, Marcelo A MA
Publication Date: 2014

Variant appearance in text: BRCA1: M1411T
PubMed Link: 24845084
Variant Present in the following documents:
  • Main text
  • pone.0097766.pdf
View BVdb publication page



Structure-Function Of The Tumor Suppressor BRCA1.

Computational And Structural Biotechnology Journal
Clark, Serena L SL; Rodriguez, Ana M AM; Snyder, Russell R RR; Hankins, Gary D V GD; Boehning, Darren D
Publication Date: 2012-04-01

Variant appearance in text: BRCA1: Met1411Thr
PubMed Link: 22737296
Variant Present in the following documents:
  • Main text
  • CSBJ-1-e201204005.pdf
View BVdb publication page



Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis.

Nature Reviews. Molecular Cell Biology
Moynahan, Mary Ellen ME; Jasin, Maria M
Publication Date: 2010-03

Variant appearance in text: BRCA1: Met1411Thr
PubMed Link: 20177395
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 and its toolbox for the maintenance of genome integrity.

Nature Reviews. Molecular Cell Biology
Huen, Michael S Y MS; Sy, Shirley M H SM; Chen, Junjie J
Publication Date: 2010-02

Variant appearance in text: BRCA1: Met1411Thr
PubMed Link: 20029420
Variant Present in the following documents:
  • Main text
View BVdb publication page



PALB2 is an integral component of the BRCA complex required for homologous recombination repair.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sy, Shirley M H SM; Huen, Michael S Y MS; Chen, Junjie J
Publication Date: 2009-04-28

Variant appearance in text: BRCA1: M1411T
PubMed Link: 19369211
Variant Present in the following documents:
  • Main text
View BVdb publication page