Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Ecancermedicalscience, Vol. 18, Article No.1670, 2024

PMID: 38439815

Breast cancer is the most common cancer among Indian females. There is limited data on germline profiling of breast cancer patients from India. The objective of the current study was to analyse the frequency and spectrum of germline variant profiles and clinicopathological characteristics of breast cancer patients referred to our Familial Cancer Clinic (FCC). All patients underwent pretest counselling. Genetic testing was done by multigene panel testing by next-generation sequencing along with reflex multiplication ligation-dependent probe amplification for BRCA1 and 2. We report a 41% pathogenic/likely pathogenic (P/LP) variant rate in our selected cohort of breast cancer patients, with variants in BRCA constituting 83% and non-BRCA gene variants constituting 17%.

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