Targeted Next-Generation Sequencing of MLH1, MSH2 , and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Balkan Medical Journal
Taha Reşid ÖzdemirAltuğ Koç

Abstract

Lynch syndrome is an inherited cancer disorder that causes an increased lifetime risk of various types of cancers. Endometrial cancer is the most common extracolonic cancer in Lynch syndrome. Guidelines recommend that patients with endometrial cancer younger than 50 years of age should be evaluated for Lynch syndrome. Molecular analysis of the mismatch repair genes and EPCAM gene is required for a definitive diagnosis of Lynch syndrome. To report the mutation analysis of mismatch repair genes using targeted next-generation sequencing in endometrial cancer diagnosed patients <50 years of age. Retrospective cross-sectional study. Seventy-nine endometrial cancer diagnosed patients <50 years of age underwent genetic counseling. They were selected among 1094 consecutive endometrial cancer patients between 2006 and 2017. Molecular analysis of MLH1, MSH2, and MSH6 genes was performed in 79 patients by using next-generation sequencing. Deletion/duplication analysis of mismatch repair genes and EPCAM gene was also performed in 79 patients by using the multiplex ligation-dependent probe amplification method. Germline testing of mismatch repair genes was performed in 79 endometrial cancer patients. Lynch syndrome was confirmed in 4 patien...Continue Reading

Citations

Jan 24, 2021·Medical Oncology·Maria Teresa VietriAnna Maria Molinari

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Methods Mentioned

BETA
hysterectomy

Software Mentioned

SEQ
Genomize
PREMM
Integrative Genomics Viewer
SEQ variant analysis

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