Muir–Torre syndrome – An Indian case report-Reference-Cited by-同舟云学术

Muir–Torre syndrome – An Indian case report

Published:2021-05-29 Issue: Volume:6 Page:93-96
ISSN:2456-3994
Container-title:International Journal of Molecular & Immuno Oncology
language:en
Short-container-title:IJMIO

Author:

Babu Janarthan¹,Balakrishnan Surya²

Affiliation:

1. Department of Medical Oncology, Asian Institute of Gastroenterology, Hyderabad, Telangana, India,

2. Department of Clinical Genetics, Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India,

Abstract

We report a case of Muir–Torre syndrome in an Indian male patient with strong family history of colon cancer. Next generation sequencing (NGS) based exome analysis revealed a heterozygous NM_000249.4:c.793C>T (p.Arg265Cys) pathogenic variant in MutL Homolog 1 gene. Familial cancers need to be genetically evaluated to identify “at-risk” family members, aid pre-symptomatic testing, and institute appropriate surveillance and preventive measures.

Publisher

Scientific Scholar

Reference16 articles.

1. Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face;Muir;Br J Surg,1967

2. Multiple sebaceous tumors;Torre;Arch Dermatol,1968

3. Report from the Jerusalem workshop on lynch syndrome-hereditary nonpolyposis colorectal cancer;Boland;Gastroenterology,2010

4. The frequency of Muir-Torre syndrome among Lynch syndrome families;South;J Natl Cancer Inst,2008

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