Lynch syndrome 4
An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers.
MONDO:0005835
Lynch syndrome
is_a
HNPCC4
related
PMS2 hereditary nonpolyposis colon cancer
exact
PMS2-related Lynch syndrome
exact
colorectal cancer, hereditary nonpolyposis, type 4
exact
hereditary nonpolyposis colon cancer caused by mutation in PMS2
exact
SPAC19G12.02c