Open AccessAlpha-fetoprotein: A molecular bootstrap for hepatocellular carcinoma
Author(s) -
Janarthan Babu,
Surya Balakrishnan
Publication year - 2020
Publication title -
international journal of molecular and immuno oncology
Language(s) - English
Resource type - Journals
eISSN - 2836-3779
pISSN - 2456-3994
DOI - 10.25259/ijmio_5_2020
Subject(s) - hepatocellular carcinoma , alpha fetoprotein , immune system , liver cancer , metastasis , biology , cancer research , embryonic stem cell , carcinoma , tumor progression , cancer , pathology , immunology , medicine , gene , biochemistry
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.