Report of a germline double heterozygote in MSH2 and PALB2.

ABSTRACT:

Background

Carriers with pathogenic variants in MSH2 have increased risk to develop colorectal, endometrium, ovarian, and other types of cancer. The PALB2 is associated with breast, ovarian, pancreatic, and prostate cancer. We describe the case of a 42-year-old female diagnosed with endometrial cancer at the age of 42 years with a strong family history of colorectal cancer, which was referred to our private diagnostic laboratory for genetic testing.

Methods

In this study, we performed next-generation sequencing (NGS) using an amplicon based 26 genes panel. The presence of multi-exonic copy number variations (CNVs) was investigated by computational analysis and Multiplex Ligation-dependent Probe Amplification (MLPA).

Results

A gross deletion of the genomic region encom

SUBMITTER: Agiannitopoulos K 

PROVIDER: S-EPMC7549547 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature