BRCA1 c.1592del ;(p.M531Rfs*2)

Variant ID: 17-41245956-CA-C

NM_007294.3(BRCA1):c.1592del;(p.M531Rfs*2)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Single-Strand Annealing in Cancer.

International Journal Of Molecular Sciences
Blasiak, Janusz J
Publication Date: 2021-02-22

Variant appearance in text: BRCA1: 1592delT
PubMed Link: 33671579
Variant Present in the following documents:
  • Main text
  • ijms-22-02167.pdf
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The role of polygenic risk and susceptibility genes in breast cancer over the course of life.

Nature Communications
Mars, Nina N; Widén, Elisabeth E; Kerminen, Sini S; Meretoja, Tuomo T; Pirinen, Matti M; Della Briotta Parolo, Pietro P; Palta, Priit P; , ; Palotie, Aarno A; Kaprio, Jaakko J; Joensuu, Heikki H; Daly, Mark M; Ripatti, Samuli S
Publication Date: 2020-12-14

Variant appearance in text: BRCA1: 1592delT
PubMed Link: 33318493
Variant Present in the following documents:
  • Main text
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Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.

Scientific Reports
Mantere, Tuomo T; Tervasmäki, Anna A; Nurmi, Anna A; Rapakko, Katrin K; Kauppila, Saila S; Tang, Jiangbo J; Schleutker, Johanna J; Kallioniemi, Anne A; Hartikainen, Jaana M JM; Mannermaa, Arto A; Nieminen, Pentti P; Hanhisalo, Riitta R; Lehto, Sini S; Suvanto, Maija M; Grip, Mervi M; Jukkola-Vuorinen, Arja A; Tengström, Maria M; Auvinen, Päivi P; Kvist, Anders A; Borg, Åke Å; Blomqvist, Carl C; Aittomäki, Kristiina K; Greenberg, Roger A RA; Winqvist, Robert R; Nevanlinna, Heli H; Pylkäs, Katri K
Publication Date: 2017-04-06

Variant appearance in text: BRCA1: 1592delT
PubMed Link: 28386063
Variant Present in the following documents:
  • 41598_2017_766_MOESM1_ESM.pdf
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A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International
Karami, Fatemeh F; Mehdipour, Parvin P
Publication Date: 2013

Variant appearance in text: BRCA1: 1592delT
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
  • BMRI2013-928562.pdf
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Heterozygous mutations in PALB2 cause DNA replication and damage response defects.

Nature Communications
Nikkilä, Jenni J; Parplys, Ann Christin AC; Pylkäs, Katri K; Bose, Muthiah M; Huo, Yanying Y; Borgmann, Kerstin K; Rapakko, Katrin K; Nieminen, Pentti P; Xia, Bing B; Pospiech, Helmut H; Winqvist, Robert R
Publication Date: 2013

Variant appearance in text: BRCA1: 1592delT
PubMed Link: 24153426
Variant Present in the following documents:
  • ncomms3578.pdf
View BVdb publication page