Article
High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.
Molecular diagnosis & therapy - 1 Apr 2017
Minucci Angelo, De Bonis Maria, De Paolis Elisa, Gentile Leonarda, Santonocito Concetta, Concolino Paola, Mignone Flavio, Capoluongo Ettore
Abstract excerpt
INTRODUCTION: Detection of pathogenic variants in hereditary breast and ovarian cancer-related breast cancer type 1 and type 2 susceptibility proteins (BRCA1/2) genes is an effective strategy in cancer prevention and treatment. Some ethnic and geographical regions show different BRCA1/2 mutation spectrum and prevalence. In Italy, elucidation of founder effect in BRCA1/2 genes can have an impact on the management...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.