Information on MMRCS3
Basic details
Name: Mismatch repair cancer syndrome 3 | Acronym: MMRCS3
Alt. names:
Gene: MSH6 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2005
Last updated on: 2023-02-28 16:41:18 by
Description
In HNPCC, 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, 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: 9354786; 12732731; 15098177; 15340263; 16000562; 16283678; 17557300; 29345684
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Multiple cafe-au-lait spots |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Axillary freckling |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Astrocytoma |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 4 | Colon cancer |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Glioblastoma multiforme |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Lisch nodules |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Lymphoma |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | T-cell lymphoma |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.