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Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort.

Familial cancer - 19 Dec 2024

Sheth Harsh, Sadhwani Jyoti, Jain Abhinav, Thenral S G, Ramprasad Vedam, Bishop D Timothy

Abstract excerpt

Lynch syndrome (LS) is an autosomal dominant hereditary cancer predisposition syndrome whereby the lifetime risk of developing gastrointestinal and genitourinary cancers rises by to over 50%. It is caused by heterozygous variants in the DNA mismatch repair genes- MLH1, MSH2, MSH6 and PMS2, with the majority detected in MLH1 and MSH2. Recurrently observed LS-associated variants in apparently unrelated individuals...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Haplotypes

Share to Mutation, Missense

Share to MutL Protein Homolog 1

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Source

Identifiers

PMID: 39702679
DOI: 10.1007/s10689-024-00436-6

Genes

MLH1
MSH2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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