Genetic evaluation of patients with multiple primary cancers.

ABSTRACT: Regarding inherited cancer predisposition, single gene carriers of pathogenic variants (PVs) have been extensively reported on in the literature, whereas the oligogenic coinheritance of heterozygous PVs in cancer-related genes is a poorly studied event. Currently, due to the increased number of cancer survivors, the probability of patients presenting with multiple primary cancers (MPCs) is higher. The present study included patients with MPCs aged ≤45 years without known PVs in common cancer predisposition genes. This study used whole exome sequencing (WES) of germline and tumoral DNA, chromosomal microarray analysis (CMA) of germline DNA (patients 1-7, 9 and 10), and a karyotype test of patient 8 to detect variants associated with the disease. The 10 patients included in the study present

SUBMITTER: Freire MV 

PROVIDER: S-EPMC11526284 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature