OA: The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Open Access:
The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families? 

 Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes.....

 Mutations in other highly penetrant genes, such as PTEN, CDH1, STK11 and TP53, can cause cancer susceptibility syndromes [9-12], but remain rare. MLH1, MSH2, MSH6 and PMS2 also contribute to a hereditary risk of OC. The criteria for genetic testing are specific to these predispositions, according to their disease spectrum.