The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10192610" target="_blank" >RIV/00216208:11110/13:10192610 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10192610

Výsledek na webu

<a href="http://dx.doi.org/10.1158/1055-9965.EPI-13-0745-T" target="_blank" >http://dx.doi.org/10.1158/1055-9965.EPI-13-0745-T</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1158/1055-9965.EPI-13-0745-T" target="_blank" >10.1158/1055-9965.EPI-13-0745-T</a>

Jazyk výsledku

angličtina

Název v původním jazyce

The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer

Popis výsledku v původním jazyce

Background: Several reports indicate that inherited mutations in the PALB2 gene predispose to breast cancer. However, there is little agreement about the clinical relevance and usefulness of mutation screening in this gene. We analyzed the prevalence andspectrum of germline mutations in PALB2 to estimate their contribution to hereditary breast and/or ovarian cancer in the Czech Republic. Methods: The entire PALB2 coding region was sequenced in 409 breast/ovarian cancer patients negative for BRCA1 and BRCA2 mutations. Testing for large genomic rearrangements (LGR) was performed by multiplex ligation-dependent probe amplification (MLPA) analysis. Results: We have identified 13 different pathogenic alterations including 10 truncating mutations and threeLGRs in 16 of 409 patients (3.9%), whereas one truncating mutation was found in a group of 1,226 controls (0.08%; P - 2.6 x 10(-9)). Three novel LGRs included deletions involving exons 7-8 and 9-10, respectively, and a duplication spannin

Název v anglickém jazyce

The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer

Popis výsledku anglicky

Background: Several reports indicate that inherited mutations in the PALB2 gene predispose to breast cancer. However, there is little agreement about the clinical relevance and usefulness of mutation screening in this gene. We analyzed the prevalence andspectrum of germline mutations in PALB2 to estimate their contribution to hereditary breast and/or ovarian cancer in the Czech Republic. Methods: The entire PALB2 coding region was sequenced in 409 breast/ovarian cancer patients negative for BRCA1 and BRCA2 mutations. Testing for large genomic rearrangements (LGR) was performed by multiplex ligation-dependent probe amplification (MLPA) analysis. Results: We have identified 13 different pathogenic alterations including 10 truncating mutations and threeLGRs in 16 of 409 patients (3.9%), whereas one truncating mutation was found in a group of 1,226 controls (0.08%; P - 2.6 x 10(-9)). Three novel LGRs included deletions involving exons 7-8 and 9-10, respectively, and a duplication spannin

Druh

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

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

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Projekt

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

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

Cancer Epidemiology Biomarkers and Prevention

ISSN

1055-9965

e-ISSN

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Svazek periodika

22

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

10

Strana od-do

2323-2332

Kód UT WoS článku

000329975700018

EID výsledku v databázi Scopus

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