BRCA1 c.5108A>C ;(p.Y1703S)

Variant ID: 17-41215935-T-G

NM_007294.3(BRCA1):c.5108A>C;(p.Y1703S)

This variant was identified in 12 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: BRCA1: Y1703S
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.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: BRCA1: Y1703S
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: BRCA1: 5108A>C; Tyr1703Ser
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: BRCA1: Y1703S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: 5108A>C; Tyr1703Ser
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: BRCA1: Y1703S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.

Nature Communications
Wang, Yifan Y; Bernhardy, Andrea J AJ; Nacson, Joseph J; Krais, John J JJ; Tan, Yin-Fei YF; Nicolas, Emmanuelle E; Radke, Marc R MR; Handorf, Elizabeth E; Llop-Guevara, Alba A; Balmaña, Judith J; Swisher, Elizabeth M EM; Serra, Violeta V; Peri, Suraj S; Johnson, Neil N
Publication Date: 2019-12-11

Variant appearance in text: BRCA1: Y1703S
PubMed Link: 31827092
Variant Present in the following documents:
  • 41467_2019_13530_MOESM1_ESM.pdf
  • 41467_2019_Article_13530.pdf
View BVdb publication page



BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

International Journal Of Molecular Sciences
Concolino, Paola P; Gelli, Gianfranco G; Rizza, Roberta R; Costella, Alessandra A; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2019-07-12

Variant appearance in text: BRCA1: Tyr1703Ser
PubMed Link: 31336956
Variant Present in the following documents:
  • Main text
  • ijms-20-03442.pdf
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5108A>C; Y1703S
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.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: BRCA1: Y1703S
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

Journal Of Medical Genetics
Jhuraney, Ankita A; Velkova, Aneliya A; Johnson, Randall C RC; Kessing, Bailey B; Carvalho, Renato S RS; Whiley, Phillip P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MP; Caputo, Sandrine M SM; Millot, Gael A GA; Vega, Ana A; Coquelle, Nicolas N; Galli, Alvaro A; Eccles, Diana D; Blok, Marinus J MJ; Pal, Tuya T; van der Luijt, Rob B RB; Santamariña Pena, Marta M; Neuhausen, Susan L SL; Donenberg, Talia T; Machackova, Eva E; Thomas, Simon S; Vallée, Maxime M; Couch, Fergus J FJ; Tavtigian, Sean V SV; Glover, J N Mark JN; Carvalho, Marcelo A MA; Brody, Lawrence C LC; Sharan, Shyam K SK; Monteiro, Alvaro N AN; ,
Publication Date: 2015-04

Variant appearance in text: BRCA1: Tyr1703Ser
PubMed Link: 25643705
Variant Present in the following documents:
  • jmedgenet-2014-102766-s1.pdf
View BVdb publication page



Functional and structural analysis of C-terminal BRCA1 missense variants.

Plos One
Quiles, Francisco F; Fernández-Rodríguez, Juana J; Mosca, Roberto R; Feliubadaló, Lídia L; Tornero, Eva E; Brunet, Joan J; Blanco, Ignacio I; Capellá, Gabriel G; Pujana, Miquel Àngel MÀ; Aloy, Patrick P; Monteiro, Alvaro A; Lázaro, Conxi C
Publication Date: 2013

Variant appearance in text: BRCA1: 5108A>C; Y1703S
PubMed Link: 23613828
Variant Present in the following documents:
  • Main text
  • pone.0061302.pdf
View BVdb publication page