Summary

Ovarian cancer is the fifth most common cause of cancer death in women in Western countries and family history of the disease is one of the strongest known risk factors. In most populations, 5–10% of all ovarian cancer cases are caused by the inheritance of cancer-predisposing genes with an autosomal dominant pattern of transmission. In the Ashkenazi Jewish population, this figure is very higher (20–30%). Hereditary ovarian cancer usually occurs in the context of hereditary breast cancer and is attributable to mutations in BRCA1 or BRCA2. Rarely, it occurs in a site-specific form, again usually due to these two genes. Mutations in mismatch repair genes are also associated with an increased risk of ovarian cancer. The age of onset of hereditary ovarian cancer varies according to which gene carries the mutation. Thus far, the clinicopathological features of BRCA1/2- related ovarian cancer do not differ markedly from the non-hereditary form. Nevertheless, the identification of the genes responsible for most hereditary ovarian cancers has opened a new area of early detection methods and preventive procedures specifically dedicated to women identified as carrying ovarian cancer predisposing genes.

Introduction

Ovarian cancer is the fifth most common malignancy and the fifth leading cause of cancer deaths among North American and northern European women. More women will die of ovarian cancer than from cancer arising in all other female reproductive organs combined. Ovarian cancer is mostly a disease of perimenopausal and postmenopausal women.