Familial cancer clinics

In the UK, there are approximately 6600 new cases of ovarian cancer and 7000 cases of endometrial cancer diagnosed annually. Of them, an estimated 5-10% may be the result of a familial predisposition.

Families at high risk of gynaecological cancers belong broadly to two groups:

• Those with a family history of breast or breast and ovarian or ovarian cancer alone who are at risk of carrying a BRCA 1 or 2 gene mutation
• Those with a family history of colorectal, endometrial, small bowel, ovarian, ureteric and renal pelvic cancers suggestive of Lynch Syndrome or hereditary nonpolyposis colorectal cancer(HNPCC) who may have a gene mutation in MLH1, MSH2, MSH6 and PMS2. In such families, cancers occur in more than one family member and usually through several generations.

Women from these families who are first degree relatives of those affected with cancers have a 10% or greater life time risk of ovarian cancer. In addition, Lynch syndrome women have a 25-60% lifetime risk of endometrial cancer.

In the clinic, all women undergo comprehensive risk assessment and counselling. Women confirmed to be at ‘high risk’ are offered a variety of risk management options which include:

• risk reducing laparoscopic surgery to remove the ovaries and tubes after a woman has completed her family. Usually such surgery is undertaken in the forties. In Lynch syndrome women with a significant risk of endometrial cancer, the uterus is also removed
• screening for ovarian and endometrial cancer (as appropriate)
• life style and contraceptive advice
• referral for breast or bowel screening as appropriate. 
• referral to clinical genetics (for assessment and genetic testing if appropriate)
• Advice about the symptoms of ovarian cancer and management of those symptoms

We have recently reported Phase 2 results of a study called UK FOCSS (the UK Familial Ovarian Cancer Screening Study). In this study, women at high risk of developing ovarian cancer, who did not wish to have surgery, were offered a CA125 blood test every four months and an ultrasound of their ovaries at least once a year.

The results show that screening picked up 40% of women with ovarian cancer at an early stage (I or II). Women in the study who had more advanced ovarian cancer (stage III, where it had spread outside the ovary) had less tumour in their abdomen than the women who went on to develop ovarian cancer after the end of the study. However, we still don’t know if ovarian cancer screening saves lives. These and other recently reported results from American studies need to be independently evaluated before any decisions can be made about a screening programme for high risk women.

Endometrial cancer screening using annual transvaginal ultrasound scans/ CA125 plus outpatient hysteroscopy/endometrial sampling is available for women with Lynch Syndrome.

• Increased familial risk of ovarian/tubal and endometrial cancer