A new mutL homolog 1 c.1896+5G>A germline mutation detected in a Lynch syndrome-associated lung and gastric double primary cancer patient.

ABSTRACT:

Background

Mismatch-repair genes (MMRs) ensure high fidelity in genome editing. Loss of function mutation of MMRs will lead to instability of the genome and increase the incidence of cancers. Human mutL homolog 1 (MLH1) is a member of the MMRs, and its mutation is found in Lynch syndrome (LS). In addition to the high incidence of colorectal cancer, LS patients often have other primary cancers. Here, a case of LS-associated lung and gastric double primary cancer was reported.

Methods

Diagnosis of lung and gastric double primary cancer was mainly based on clinical findings, imaging examination, and histopathological data. The tumor tissues and blood samples were collected, and then genomic DNA was extracted and 450 cancer-related gene alteration screening was conducted by next

SUBMITTER: Chen X 

PROVIDER: S-EPMC6687634 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature