BRCA2 c.4956A>G ;(p.A1652=)

Variant ID: 13-32913448-A-G

NM_000059.3(BRCA2):c.4956A>G;(p.A1652=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.

Oncotarget
Zuntini, Roberta R; Cortesi, Laura L; Calistri, Daniele D; Pippucci, Tommaso T; Martelli, Pier Luigi PL; Casadio, Rita R; Capizzi, Elisa E; Santini, Donatella D; Miccoli, Sara S; Medici, Veronica V; Danesi, Rita R; Marchi, Isabella I; Zampiga, Valentina V; Fiorentino, Michelangelo M; Ferrari, Simona S; Turchetti, Daniela D
Publication Date: 2017-04-04

Variant appearance in text: BRCA2: 4956A>G
PubMed Link: 28186987
Variant Present in the following documents:
  • oncotarget-08-22640.pdf
View BVdb publication page



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: BRCA2: 4956A>G
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
  • BMRI2013-928562.pdf
View BVdb publication page



BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia.

Hereditary Cancer In Clinical Practice
Tamboom, Kristiina K; Kaasik, Krista K; Aršavskaja, Jelena J; Tekkel, Mare M; Lilleorg, Aili A; Padrik, Peeter P; Metspalu, Andres A; Veidebaum, Toomas T
Publication Date: 2010-04-09

Variant appearance in text: BRCA2: 4956A>G
PubMed Link: 20380699
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals.

Bmc Cancer
De Silva, Wasanthi W; Karunanayake, Eric H EH; Tennekoon, Kamani H KH; Allen, Marie M; Amarasinghe, Indrani I; Angunawala, Preethika P; Ziard, Mohamed H MH
Publication Date: 2008-07-29

Variant appearance in text: BRCA2: 4956A>G
PubMed Link: 18662409
Variant Present in the following documents:
  • Main text
  • 1471-2407-8-214.pdf
View BVdb publication page



Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway.

Disease Markers
Frost, Petter P; Jugessur, Astanand A; Apold, Jaran J; Heimdal, Ketil K; Aloysius, Thomas T; Eliassen, Aud K AK; Fauske, Lars L; Matre, Guri G; Eiken, Hans Geir HG
Publication Date: 2005

Variant appearance in text: BRCA2: 4956A>G
PubMed Link: 15735322
Variant Present in the following documents:
  • DM21-01-542928.pdf
View BVdb publication page