Missense mutace v oblasti RING finger domény BRCA1 genu detekované u vysoce rizikových českých pacientek s hereditárním nádorem prsu a ovaria

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F04%3A00013899" target="_blank" >RIV/00209805:_____/04:00013899 - isvavai.cz</a>

Výsledek na webu

—

DOI - Digital Object Identifier

—

Jazyk výsledku

angličtina

Název v původním jazyce

Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer

Popis výsledku v původním jazyce

Germline mutations in highly penetrant cancer susceptibility gene BRCA1 cause genetic predisposition to breast and ovarian cancers. Mutations generating a premature stop codon are considered to be pathogenic. However, distinguishing disease-causing missense mutations from rare polymorphisms remains problematic. Three different missense mutations located within conserved C3HC4 RING finger domain of BRCA1 gene were repeatedly detected in unrelated high-risk Czech breast and/or ovarian cancer families: p.Met18Lys (M18K); p.Cys39Arg (C39R); p.Cys61Gly (C61G). The RING finger motif of BRCA1 gene is involved in protein-protein interactions. The p.Cys61Gly is frequent mutation and was proved by many authors to segregate with the disease in several breast cancer families. However, p.Met18Lys detected in 3 Czech families is not recently present in BIC database and p.Cys39Agr detected in 3 Czech families has been submitted only twice to BIC database. None of these missense mutations was present

Název v anglickém jazyce

Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer

Popis výsledku anglicky

Germline mutations in highly penetrant cancer susceptibility gene BRCA1 cause genetic predisposition to breast and ovarian cancers. Mutations generating a premature stop codon are considered to be pathogenic. However, distinguishing disease-causing missense mutations from rare polymorphisms remains problematic. Three different missense mutations located within conserved C3HC4 RING finger domain of BRCA1 gene were repeatedly detected in unrelated high-risk Czech breast and/or ovarian cancer families: p.Met18Lys (M18K); p.Cys39Arg (C39R); p.Cys61Gly (C61G). The RING finger motif of BRCA1 gene is involved in protein-protein interactions. The p.Cys61Gly is frequent mutation and was proved by many authors to segregate with the disease in several breast cancer families. However, p.Met18Lys detected in 3 Czech families is not recently present in BIC database and p.Cys39Agr detected in 3 Czech families has been submitted only twice to BIC database. None of these missense mutations was present

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

—

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

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

Rok uplatnění

2004

Kód důvěrnosti údajů

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

Název periodika

European journal of human genetics

ISSN

1018-4813

e-ISSN

—

Svazek periodika

17

Číslo periodika v rámci svazku

suppl. 1

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

1

Strana od-do

177

Kód UT WoS článku

—

EID výsledku v databázi Scopus

—