@Article{Bryś2004,
journal="Menopause Review/Przegląd Menopauzalny",
issn="1643-8876",
volume="3",
number="6",
year="2004",
title="Mutations of hMLH1 gene and sporadic breast cancer",
abstract=" Purpose:  In order to test the hypothesis that the  hMLH1  gene is compromised in the initiation and progression of breast cancer, we have investigated mutations of exon 8 and 14 using PCR-SSCP technique.   Material and methods:  Paraffin-embedded tumour and peripheral venous blood of 35 patients with breast ductal carcinoma were studied. The single strand conformational polymorphism (SSCP) analysis of the  hMLH1  gene was performed by polymerase chain reaction (PCR). PCR primers were prepared to amplify the full sequence of exons 8 and 14, and exon-intron borders. Samples with identified  hMLH1  mutations were sequenced using ABI Ready Reaction Dye Terminator Cycle Sequencing kit and the ABI Prism 377 sequencer.    Results and conclusions:   hMLH1  gene mutations were found in 3/35 (8%) studied cases of breast cancer. They were identified in exon 8. No mutations were detected in exon 14. Two sequence variants were identified in  hMLH1  gene. One, a ATC\→GTC substitution in codon 219 (exon 8) changing isoleucine to valine. The other mutation detected in  hMLH1  was a CGA\→TGA substitution in codon 226 (exon 8), creating a stop codon, predicted to generate a truncated protein.  hMLH1  gene defects involving exon 8 and 14 are extremely rare events and thus seems not to be involved in sporadic breast cancer.",
author="Bryś, Magdalena
and Małgorzata Krajewska, Wanda
and Zych, Aneta
and Kulig, Andrzej
and Romanowicz-Makowska, Hanna",
pages="47--50",
url="https://www.termedia.pl/Mutations-of-hMLH1-gene-and-sporadic-breast-cancer,4,2827,1,1.html"
}