ovarian cancer : High-risk groups

Groups at high risk for ovarian cancer include:

Women with a strong family history of breast and/or ovarian cancer (two or more first-degree relatives and/or a relative with cancer before menopause) are a high-risk group8 who may carry a mutation of the BRCA1 and BRCA2 genes. These women have a risk of ovarian malignancy of up to 50%.

Women with a strong family history of colon cancer (at least three affected family members in at least two successive generations, with one case below age 50 years) may be at increased risk for endometrial and ovarian malignancy because they carry a mismatch repair gene mutation. These women have a risk of up to 10% for ovarian cancer and 50% for endometrial cancer.

Studies exploring the value of screening these women for ovarian cancer are lacking and are urgently required. Even though population-based screening for ovarian cancer is not recommended, and although there is no level of evidence that this group of women should undergo screening, it seems prudent that, until evidence to the contrary is available, measurement of CA 125 levels and transvaginal ultrasound be undertaken at least on a yearly basis. Certainly, women who may have gene mutations should be referred to family cancer clinics for counselling.

New technologies
New technologies have increased the possibilities for ovarian cancer screening. The use of genomics and proteomics to identify specific proteomic patterns, gene expression and genetic alterations, using serum or urine, may revolutionise our ability to screen for this disease.9 These new developments will hopefully be of use in population screening.

Cleola Anderiesz and Michael A Quinn