open access: Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

Conclusions
Although carriers of mutations in both MMR and BRCA genes are rare in Caucasian populations and anamnestical and histopathological findings may guide clinicians to identify these families, both syndromes can only be diagnosed through a complete gene analysis of the respective genes.