Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

ABSTRACT:

Background

There is a lack of information on rare germline variants of pancreatic cancer-predisposing genes. Risk genes for multiple primary cancers may overlap with those for pancreatic cancer.

Methods

A retrospective study of autopsy cases with a negative family history in the Japanese single nucleotide polymorphism for geriatric research database examined rare germline variants in the protein-coding regions of 61 genes. Targeted sequencing of these genes was performed and classified for pathogenicity using the American College of Medical Genetics and Genomics guidelines. Polyphen-2, SIFT and LoFtool algorithms were used to predict damage to protein function.

Results

Of the 189 subjects used (90 cancer and 99 non-cancer controls), 72 patients had pancreatic cancer (

SUBMITTER: Fujitani H 

PROVIDER: S-EPMC10063194 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature