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

Result code in 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>
Alternative codes found
RIV/00064165:_____/13:10192610
Result on the web
<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>

Result language
angličtina
Original language name
The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
Original language description
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
Czech name
—
Czech description
—

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
—

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)