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Article

I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer.

Breast cancer research and treatment - 1 Jul 2008

Roznowski Krzysztof, Januszkiewicz-Lewandowska Danuta, Mosor Maria, Pernak Monika, Litwiniuk Maria, Nowak Jerzy

Abstract excerpt

Nijmegen Breakage Syndrome (NBS) is a rare autosomal, recessive disease caused by homozygous mutations in the NBS1 gene. The most common deletion of 5 bp (657del5) in exon 6, which affects mostly the population of Central Europe is observed. Among the typical features of this disorder is that NBS patients experience a high incidence of lymphoid malignancies as well. An increased risk of solid tumors development...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17899368
DOI: 10.1007/s10549-007-9734-1

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I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer.PMID 17899368Read ↗

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Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland.Semantic proximity Read ↗

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