Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7534" target="_blank" >RIV/00216208:11110/10:7534 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/10:7534

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.

Original language description

The two major susceptibility genes, BRCA1 and BRCA2, are involved in hereditary breast and ovarian cancer syndrome. Early detection of mutation carriers has crucial clinical importance, as it allows identification of women who may benefit from intensiveclinical follow-up or prophylactic surgery. Generally accepted inclusion criteria for BRCA1/2 mutation testing are based either upon family history of breast or ovarian cancer or young age at cancer diagnosis. In order to analyze the impact of BRCA1/2 mutations on breast cancer development in the Czech population and to confront the clinical and histopathological data of mutation carriers with current criteria for mutation testing we examined the frequency of mutations in unselected breast cancer cases.Mutational analysis of BRCA1/2 genes performed in 679 unselected female breast cancer patients included all recurrent deleterious alterations previously identified in the Prague area and truncating mutations in the whole exon 11 of BRCA1

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neoplasma

ISSN

0028-2685

e-ISSN

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Volume of the periodical

57

Issue of the periodical within the volume

3

Country of publishing house

SK - SLOVAKIA

Number of pages

6

Pages from-to

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UT code for WoS article

000277412800014

EID of the result in the Scopus database

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