BRCA1 c.4963T>G ;(p.S1655A)

Variant ID: 17-41222968-A-C

NM_007294.3(BRCA1):c.4963T>G;(p.S1655A)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


The BRCA1 BRCT promotes antisense RNA production and double-stranded RNA formation to suppress ribosomal R-loops.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chang, Chou-Wei CW; Singh, Anup Kumar AK; Li, Min M; Guan, Li L; Le, Nhung N; Omabe, Kenneth K; Liang, Feng F; Liu, Yilun Y
Publication Date: 2022-12-13

Variant appearance in text: BRCA1: S1655A
PubMed Link: 36490315
Variant Present in the following documents:
  • pnas.202217542.pdf
  • pnas.2217542119.sapp.pdf
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: S1655A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Two redundant ubiquitin-dependent pathways of BRCA1 localization to DNA damage sites.

Embo Reports
Sherker, Alana A; Chaudhary, Natasha N; Adam, Salomé S; Heijink, Anne Margriet AM; Noordermeer, Sylvie M SM; Fradet-Turcotte, Amélie A; Durocher, Daniel D
Publication Date: 2021-12-06

Variant appearance in text: BRCA1: S1655A
PubMed Link: 34726323
Variant Present in the following documents:
  • Main text
  • EMBR-22-e53679.pdf
View BVdb publication page



Two redundant ubiquitin-dependent pathways of BRCA1 localization to DNA damage sites.

Embo Reports
Sherker, Alana A; Chaudhary, Natasha N; Adam, Salomé S; Heijink, Anne Margriet AM; Noordermeer, Sylvie M SM; Fradet-Turcotte, Amélie A; Durocher, Daniel D
Publication Date: 2021-12-06

Variant appearance in text: BRCA1: S1655A
PubMed Link: 34726323
Variant Present in the following documents:
  • Main text
  • EMBR-22-e53679.pdf
View BVdb publication page



Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.

Frontiers In Oncology
Fanale, Daniele D; Fiorino, Alessia A; Incorvaia, Lorena L; Dimino, Alessandra A; Filorizzo, Clarissa C; Bono, Marco M; Cancelliere, Daniela D; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Sciacchitano, Roberta R; Magrin, Luigi L; Pivetti, Alessia A; Pedone, Erika E; Madonia, Giorgio G; Cucinella, Alessandra A; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2021

Variant appearance in text: BRCA1: 4963T>G; Ser1655Ala
PubMed Link: 34178674
Variant Present in the following documents:
  • Main text
  • fonc-11-682445.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: 4963T>G; Ser1655Ala
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.

Computational And Structural Biotechnology Journal
Sinha, Siddharth S; Wang, San Ming SM
Publication Date: 2020

Variant appearance in text: BRCA1: 4963T>G; S1655A
PubMed Link: 32257056
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



CSB interacts with BRCA1 in late S/G2 to promote MRN- and CtIP-mediated DNA end resection.

Nucleic Acids Research
Batenburg, Nicole L NL; Walker, John R JR; Coulombe, Yan Y; Sherker, Alana A; Masson, Jean-Yves JY; Zhu, Xu-Dong XD
Publication Date: 2019-11-18

Variant appearance in text: BRCA1: S1655A
PubMed Link: 31501894
Variant Present in the following documents:
  • Main text
  • gkz784.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: 4963T>G; S1655A
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: S1655A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Targeting Phosphopeptide Recognition by the Human BRCA1 Tandem BRCT Domain to Interrupt BRCA1-Dependent Signaling.

Cell Chemical Biology
Periasamy, Jayaprakash J; Kurdekar, Vadiraj V; Jasti, Subbarao S; Nijaguna, Mamatha B MB; Boggaram, Sanjana S; Hurakadli, Manjunath A MA; Raina, Dhruv D; Kurup, Lokavya Meenakshi LM; Chintha, Chetan C; Manjunath, Kavyashree K; Goyal, Aneesh A; Sadasivam, Gayathri G; Bharatham, Kavitha K; Padigaru, Muralidhara M; Potluri, Vijay V; Venkitaraman, Ashok R AR
Publication Date: 2018-06-21

Variant appearance in text: BRCA1: S1655A
PubMed Link: 29606576
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



And-1 coordinates with CtIP for efficient homologous recombination and DNA damage checkpoint maintenance.

Nucleic Acids Research
Chen, Yali Y; Liu, Hailong H; Zhang, Haoxing H; Sun, Changqing C; Hu, Zhaohua Z; Tian, Qingsong Q; Peng, Changmin C; Jiang, Pei P; Hua, Hui H; Li, Xinzhi X; Pei, Huadong H
Publication Date: 2017-03-17

Variant appearance in text: BRCA1: S1655A
PubMed Link: 27940552
Variant Present in the following documents:
  • Main text
  • gkw1212.pdf
View BVdb publication page



A cell cycle-dependent BRCA1-UHRF1 cascade regulates DNA double-strand break repair pathway choice.

Nature Communications
Zhang, Haoxing H; Liu, Hailong H; Chen, Yali Y; Yang, Xu X; Wang, Panfei P; Liu, Tongzheng T; Deng, Min M; Qin, Bo B; Correia, Cristina C; Lee, Seungbaek S; Kim, Jungjin J; Sparks, Melanie M; Nair, Asha A AA; Evans, Debra L DL; Kalari, Krishna R KR; Zhang, Pumin P; Wang, Liewei L; You, Zhongsheng Z; Kaufmann, Scott H SH; Lou, Zhenkun Z; Pei, Huadong H
Publication Date: 2016-01-05

Variant appearance in text: BRCA1: S1655A
PubMed Link: 26727879
Variant Present in the following documents:
  • Main text
  • ncomms10201-s1.pdf
  • ncomms10201.pdf
View BVdb publication page



Peptide library approach to uncover phosphomimetic inhibitors of the BRCA1 C-terminal domain.

Acs Chemical Biology
White, E Railey ER; Sun, Luxin L; Ma, Zhong Z; Beckta, Jason M JM; Danzig, Brittany A BA; Hacker, David E DE; Huie, Melissa M; Williams, David C DC; Edwards, Ross A RA; Valerie, Kristoffer K; Glover, J N Mark JN; Hartman, Matthew C T MC
Publication Date: 2015-05-15

Variant appearance in text: BRCA1: S1655A
PubMed Link: 25654734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: BRCA1: S1655A
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Regulation of the DNA damage response on male meiotic sex chromosomes.

Nature Communications
Lu, Lin-Yu LY; Xiong, Yi Y; Kuang, Henry H; Korakavi, Gautam G; Yu, Xiaochun X
Publication Date: 2013

Variant appearance in text: BRCA1: S1655A
PubMed Link: 23812044
Variant Present in the following documents:
  • Main text
  • nihms489007.pdf
View BVdb publication page



Function of BRCA1 in the DNA damage response is mediated by ADP-ribosylation.

Cancer Cell
Li, Mo M; Yu, Xiaochun X
Publication Date: 2013-05-13

Variant appearance in text: BRCA1: S1655A
PubMed Link: 23680151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains.

Structure (London, England : 1993)
Botuyan, Maria Victoria E MV; Nominé, Yves Y; Yu, Xiaochun X; Juranic, Nenad N; Macura, Slobodan S; Chen, Junjie J; Mer, Georges G
Publication Date: 2004-07

Variant appearance in text: BRCA1: S1655A
PubMed Link: 15242590
Variant Present in the following documents:
  • Main text
View BVdb publication page