Germline genetic diagnosis has become an important element for the care of patient with a suspected predisposition to cancer, to aim therapeutic, for follow up and for genetic counselling for relatives.

Many genes involved in cancer predisposition have been highlighted past few years, and new genes will be probably found. The interest of the whole exome sequencing (WES) is that all the known genes involved in cancer predisposition are analysed (under reserve of technical limitation), especially genes predisposing to breast, ovarian, prostate, digestive, pancreas, skin or kidney. WES make it also possible to look at candidate gene and will make it possible to reinterpret data later with the evolution of knowledge, because the genes already have been sequenced.

This in silico genes panel include 13 genes validated for hereditary breast and ovarian cancer predisposition and also genes implicated in prostate cancer.

ATM, BRCA1, BRCA2, CDH1, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN , RAD51C, RAD51D, TP53

When a pathogenic variant is detected, targeted analysis by sanger sequencing or qPCR could be performed in our lab (for confirmation, family survey or prenatal diagnosis). Link : https://www.eurofins-biomnis.com/services/referentiel-des-examens/page/SEQCI/