Akademik Veri Yönetim Sistemi
The European Human Genetics Conference 2025, Milan, İtalya, 24 - 27 Mayıs 2025, (Yayınlanmadı)
Investigation
of Lynch-related variants in breast cancer cases: Is there an overlooked
association?
Etkin Özkan, Mehmet
Kocabey, Elçin Bora, Ayfer Ülgenalp, Ahmet Okay Çağlayan
Background: Lynch syndrome is one of the most prevalent hereditary
cancer syndromes. Its prevalence is approximately 1 in 279. While many studies
have suggested a modest increase in breast cancer risk, the relationship
between breast cancer and Lynch syndrome remains controversial. This study aims
to enhance our understanding of the potential association between Lynch
syndrome and breast cancer through an analysis of our own data.
Material and Method: Next-generation sequencing panel data, including
hereditary cancer predisposition genes, of 861 patients diagnosed with breast
cancer between 2018 and 2024 were collected retrospectively. Variants
classified as pathogenic (P), likely pathogenic (LP), and variant of uncertain
significance (VUS) in Lynch syndrome-associated genes were re-analyzed.
Results: Among the 861 patients, 84 P/LP and VUS variants were identified in 81
individuals. In the MLH1 gene, 3 LP variants (0.35%) and 37 VUS (4.30%);
in the MSH2, 1 LP variant (0.12%) and 14 VUS (1.63%); in the MSH6,
28 VUS (3.25%) and in PMS2 gene, 1 VUS (0.12%) were detected. Overall, LP
variants were observed in 0.46%, VUS were observed in 9.23% of the patients. Patients
with detected likely pathogenic variants did not have colorectal or endometrial
cancer history.
Conclusion: When compared to the population prevalence of Lynch syndrome, the frequency
of LP/P variants identified in the breast cancer cohort was found to be
similar. In cases where breast cancer is the only symptom, Lynch syndrome
should be considered only after the exclusion of primary breast cancer
associated gene mutations.
Keywords: Lynch Syndrome, breast
cancer, next generation sequencing