Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10330331" target="_blank" >RIV/00064165:_____/16:10330331 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/16:10330331 RIV/75010330:_____/16:00011485
Result on the web
<a href="http://dx.doi.org/10.1016/j.cancergen.2016.03.003" target="_blank" >http://dx.doi.org/10.1016/j.cancergen.2016.03.003</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.cancergen.2016.03.003" target="_blank" >10.1016/j.cancergen.2016.03.003</a>
Alternative languages
Result language
angličtina
Original language name
Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic
Original language description
Pancreatic ductal adenocarcinoma (PDAC) has the worst prognosis among common solid cancer diagnoses. It has been shown that up to 10% of PDAC cases have a familial component. Characterization of PDAC-susceptibility genes could reveal high-risk individuals and patients that may benefit from tailored therapy. Hereditary mutations in PALB2 (Partner and Localizer of BRCA2) gene has been shown to predispose, namely to PDAC and breast cancers; however, frequencies of mutations vary among distinct geographical populations. Using the combination of sequencing, high-resolution melting and multiplex ligation dependent probe amplification analyses, we screened the entire PALB2 gene in 152 unselected Czech PDAC patients. Truncating mutations were identified in three (2.0%) patients. Genotyping of found PALB2 variants in 1226 control samples revealed one carrier of PALB2 truncating variant (0.08%; P = 0.005). The mean age at PDAC diagnosis was significantly lower among PALB2 mutation carriers (51 years) than in non-carriers (63 years; P = 0.016). Only one patient carrying germline PALB2 mutation had a positive family breast cancer history. Our results indicate that hereditary PALB2 mutation represents clinically considerable genetic factor increasing PDAC susceptibility in our population and that analysis of PALB2 should be considered not only in PDAC patients with familial history of breast or pancreatic cancers but also in younger PDAC patients without family cancer history.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT14006" target="_blank" >NT14006: A role of hereditary mutations of the PALB2 gene in breast, ovarian and pancreatic cancer development in the Czech Republic</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Cancer Genetics
ISSN
2210-7762
e-ISSN
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Volume of the periodical
209
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
199-204
UT code for WoS article
000389160300004
EID of the result in the Scopus database
2-s2.0-84963730511