Alpha-fetoprotein: A molecular bootstrap for hepatocellular carcinoma | Zendy

Ashokachakkaravarthy Kandasamy | Zendy; Biju Pottakkat | Zendy

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Alpha-fetoprotein: A molecular bootstrap for hepatocellular carcinoma

Author(s) -

Ashokachakkaravarthy Kandasamy,

Biju Pottakkat

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.

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