A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency | Zendy

William Rengifo-Cam | Zendy; Kory Jasperson | Zendy; Ignacio GarridoLaguna | Zendy; Howard Colman | Zendy; Courtney L. Scaife | Zendy; Wade S. Samowitz | Zendy; Jewel Samadder | Zendy

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A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency

Author(s) -

William Rengifo-Cam,

Kory Jasperson,

Ignacio GarridoLaguna,

Howard Colman,

Courtney L. Scaife,

Wade S. Samowitz,

Jewel Samadder

Publication year - 2017

Publication title -

acg case reports journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.112

H-Index - 4

ISSN - 2326-3253

DOI - 10.14309/crj.2017.34

Subject(s) - medicine , colorectal cancer , lynch syndrome , cancer , dna mismatch repair , pediatrics

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.

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