A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F24%3A00597695" target="_blank" >RIV/68378050:_____/24:00597695 - isvavai.cz</a>
Alternative codes found
RIV/00209805:_____/24:00079925 RIV/00216208:11110/24:10483154 RIV/00216208:11310/24:10483154 RIV/00098892:_____/24:10158720 and 3 more
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/10.1002/cam4.70103" target="_blank" >https://onlinelibrary.wiley.com/doi/10.1002/cam4.70103</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/cam4.70103" target="_blank" >10.1002/cam4.70103</a>
Alternative languages
Result language
angličtina
Original language name
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer
Original language description
Background: Monoallelic germline pathogenic variants (GPVs) in five Fanconi anemia (FA) genes (BRCA1/FANCS, BRCA2/FANCD1, PALB2/FANCN, BRIP1/FANCJ, and RAD51C/FANCO) confer an increased risk of breast (BC) and/or ovarian (OC) cancer, but the role of GPVs in 17 other FA genes remains unclear. Methods: Here, we investigated the association of germline variants in FANCG/XRCC9 with BC and OC risk. Results: The frequency of truncating GPVs in FANCG did not differ between BC (20/10,204,0.20%) and OC (8/2966, 0.27%) patients compared to controls (6/3250, 0.18%). In addition, only one out of five tumor samples showed loss-of-heterozygosity of the wild-type FANCG allele. Finally, none of the nine functionally tested rare recurrent missense FANCG variants impaired DNA repair activities (FANCD2 monoubiquitination and FANCD2 foci formation) upon DNA damage, in contrast to all tested FANCG truncations. Conclusion: Our study suggests that heterozygous germline FANCG variants are unlikely to contribute to the development of BC or OC.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
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
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Cancer Medicine
ISSN
2045-7634
e-ISSN
2045-7634
Volume of the periodical
13
Issue of the periodical within the volume
16
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
e70103
UT code for WoS article
001292110200001
EID of the result in the Scopus database
2-s2.0-85201294931