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[Founder mutation in Lynch syndrome].

Andrea R Cajal¹, Tamara A Piñero¹, Alicia Verzura²

¹Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Instituto Universitario Hospital Italiano, Argentina.

|June 14, 2016

Summary

Lynch syndrome, a hereditary colorectal cancer cause, involves MLH1 gene mutations. This study identifies a specific MLH1 mutation in an Argentinian family, highlighting its high pathogenicity and need for genetic screening.

Keywords:

Lynch syndrome MLH1 gene founder mutation

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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Published on: September 20, 2016

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Lynch syndrome is the most common hereditary colorectal cancer.
It arises from mutations in DNA repair genes like MLH1, MSH2, MSH6, PMS2, and MUTYH.

Observation:

A specific MLH1 mutation (c.2252_2253delAA, p.Lys751Serfs*3) is linked to a Northern Italian founder effect.
This mutation was identified in an Argentinian patient with uterine endometrioid adenocarcinoma.
The patient's family met Amsterdam Criteria I and Lynch syndrome II criteria due to early-onset colon cancer.

Findings:

The MLH1 mutation exhibits high pathogenicity, correlating with Lynch syndrome features.
Observed features include early onset, multiple primary tumors, pancreatic cancer, high microsatellite instability, and absent PMS2 expression.

Implications:

Widespread genetic study of families with hereditary cancer is crucial.
Pre-symptomatic genetic diagnosis enables early assessment and preventive treatments.
This research underscores the importance of identifying specific mutations for targeted screening and management.