Association of a novel point mutation in MSH2 gene with familial multiple primary cancers.

ABSTRACT:

Background

Multiple primary cancers (MPC) have been identified as two or more cancers without any subordinate relationship that occur either simultaneously or metachronously in the same or different organs of an individual. Lynch syndrome is an autosomal dominant genetic disorder that increases the risk of many types of cancers. Lynch syndrome patients who suffer more than two cancers can also be considered as MPC; patients of this kind provide unique resources to learn how genetic mutation causes MPC in different tissues.

Methods

We performed a whole genome sequencing on blood cells and two tumor samples of a Lynch syndrome patient who was diagnosed with five primary cancers. The mutational landscape of the tumors, including somatic point mutations and copy number alternati

SUBMITTER: Hu H 

PROVIDER: S-EPMC5627420 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature