Name: Mismatch repair cancer syndrome 4 | Acronym: MMRCS4
Alt. names: PMS2 deficiency

Gene: PMS2 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2000

Last updated on: 2023-02-28 16:41:18 by

OMIM: 619101

Orphanet: -

MONDO: -

DOID: -

ClinGen:

For surveillance, colonoscopy with polyp removal is indicated starting at (whichever is earlier) age 20-25 years or 10 years prior to the earliest familial diagnosis; Prophylactic Hysterectomy with bilateral oophorectomy may be considered after childbearing is completed; For individuals with colon cancer, surgical treatment with full colectomy (and ileorectal anastomosis) is recommended; Cigarette smoking should be avoided; For other tumor types (individuals may be at risk of a number of cancer types), awareness of cancer risk may allow early diagnosis and treatment, which may reduce morbidity and mortality; Individuals with Mismatch repair cancer syndrome are at risk of multiple types of malignancy, and awareness may allow early detection and management. Individuals may be at risk for additional types of malignancy. Refs. PMIDs: 8072530; 7661930; 4574005; 15077197; 17557300; 19851131; 20587412; 20301390; 22461402; 22577899; 22933731; 24434690; 25856668; 29345684

Description of management option has not been reviewed yet.