BRCA mutation screening and patterns among high-risk Lebanese subjects.

Chantal FarraChristelle DagherRebecca BadraMiza Salim HammoudRaafat AlameddineJohnny AwwadMuhieddine SeoudJaber AbbasFouad BoulosNagi El SaghirDeborah A Mukherji

Published in: Hereditary cancer in clinical practice (2019)

The BRCA1 c.131G > T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation in BRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape of BRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations.

Keyphrases

breast cancer risk
big data
machine learning
single cell
electronic health record
tertiary care
meta analyses