当前位置： SCI文献检索 > BREAST CANCER RESEARCH AND TREATMENT期刊下所有文献 > Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.

Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.

Abstract：

:Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast ovarian cancer (HBOC) cases. However, after BRCA1 and BRCA2 screening still the most HBOC cases remain negative for any mutational event. Accordingly, in these cases raises the relevance to analyze the unusual BRCA1/2 variants of uncertain clinical significance. Complex RNA/cDNA analysis may constitute the solution and help to interpret the HBOC syndrome in the family. In our study we analyzed the novel, to our knowledge, not yet published mutations identified in Slovak HBOC families, c.80 + 3del4 (IVS2 + 3delAGTC) in BRCA1 gene and mutation c.6589delA (6817delA) in BRCA2 gene. To determine the effect of the BRCA1 mutation, we applied different approaches: segregation analysis of mutation with disease, presence in the set of unaffected controls and finally RNA/cDNA BRCA1 analysis. Novel BRCA2 mutation was determined performing direct sequencing analysis. In conclusion, considering the results from all used techniques we approved the mentioned mutations as seriously pathogenic and disease causing with clear effect on the onset of HBOC syndrome.

journal_name

Breast Cancer Res Treat

journal_title

Breast cancer research and treatment

authors

Konecny M,Vizvaryova M,Zavodna K,Behulova R,Gerykova Bujalkova M,Krivulcik T,Cisarik F,Kausitz J,Weismanova E

doi

10.1007/s10549-008-0244-6

subject

Has Abstract

pub_date

2010-01-01 00:00:00

pages

233-7

issue

1

eissn

0167-6806

issn

1573-7217

journal_volume

119

pub_type

杂志文章

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