DefinePK

Abstract

Introduction


The incidence of Hereditary Ovarian Cancer Syndromes (HOCS) in the United States and Western Europe is less than 1% of all epithelial ovarian cancers1,2. There are three types of clinical syndromes that come under this heading; breast-ovar­ian cancer syndrome, site-specific ovarian cancer syndrome and familial cancer syndrome (Lynch syndrome II). Mode of inheritance of these syndromes is autosomal dominant and the risk of developing ovarian cancer in individuals belonging to these families is as high as 50%3. Genetic linkage studies have demonstrated that the gene which predisposes to breast and ovarian cancer (BRCA I) is located on chromosome 17q. BRCAI carriers’ life time risk of getting breast or ovarian cancer approaches 100%4,5. Clinically, these familial cancers are characterized by early age at onset and higher frequency of bilateral involvement. Pathologically, these tumors often tend to be poorly differentiated. This article presents three Pakistani families identified to be affected by HOCS. Importance of detailed family history and pedigree analysis in the identifica­tion of these syndromes is discussed alongwith guidelines for surveillance and management of members belonging to these families.