{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(2)"],"submitter":["Imyanitov EN"],"pubmed_abstract":["Hereditary cancer syndromes (HCSs) are arguably the most frequent category of Mendelian genetic diseases, as at least 2% of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants (PVs). Hereditary breast-ovarian cancer and Lynch syndrome make the highest contribution to cancer morbidity; in addition, there are several dozen less frequent types of familial tumors. The development of the majority albeit not all hereditary malignancies involves two-hit mechanism, <i>i.e.</i> the somatic inactivation of the remaining copy of the affected gene. Earlier studies on cancer families suggested nearly fatal penetrance for the majority of HCS genes; however, population-based investigations and especially large-scale next-generation sequencing data sets demonstrate th"],"journal":["World journal of clinical oncology"],"pagination":["40-68"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9993141"],"repository":["biostudies-literature"],"pubmed_title":["Hereditary cancer syndromes."],"pmcid":["PMC9993141"],"pubmed_authors":["Imyanitov EN","Kuligina ES","Sokolenko AP","Aleksakhina SN","Suspitsin EN","Yanus GA","Iyevleva AG","Ivantsov AO"],"additional_accession":[]},"is_claimable":false,"name":"Hereditary cancer syndromes.","description":"Hereditary cancer syndromes (HCSs) are arguably the most frequent category of Mendelian genetic diseases, as at least 2% of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants (PVs). Hereditary breast-ovarian cancer and Lynch syndrome make the highest contribution to cancer morbidity; in addition, there are several dozen less frequent types of familial tumors. The development of the majority albeit not all hereditary malignancies involves two-hit mechanism, <i>i.e.</i> the somatic inactivation of the remaining copy of the affected gene. Earlier studies on cancer families suggested nearly fatal penetrance for the majority of HCS genes; however, population-based investigations and especially large-scale next-generation sequencing data sets demonstrate th","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-05T13:32:27.693Z","creation":"2025-02-19T04:44:14.958Z"},"accession":"S-EPMC9993141","cross_references":{"pubmed":["36908677"],"doi":["10.5306/wjco.v14.i2.40"]}}