Mutation analysis of the BRCA1 and BRCA2 genes in Belgian patients population and identification of a Belgian founder mutation BRCA1 IVS5+3A>G

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F99%3A00000009" target="_blank" >RIV/00209805:_____/99:00000009 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Mutation analysis of the BRCA1 and BRCA2 genes in Belgian patients population and identification of a Belgian founder mutation BRCA1 IVS5+3A>G

Original language description

There are summarised results of complete mutation analysis BRCA1 and BRCA2 genes in 49 families and in 19 "sporadic" female patients with early onset breast and/ovarian cancer. In 5 apparently unrelated families the same splice site mutation was identified (BRCA1 IVS5+3A G). Disease causing mutation was found in 15 Flemish families with breast and/or ovarian cancer. In note of the 19 sporadic patients was a mutation found.

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

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

1999

Confidentiality

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

Name of the periodical

Disease Markers

ISSN

0278-0240

e-ISSN

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Volume of the periodical

15

Issue of the periodical within the volume

October

Country of publishing house

GB - UNITED KINGDOM

Number of pages

5

Pages from-to

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UT code for WoS article

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EID of the result in the Scopus database

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