It is good practice to take a family history of cancer when a patient is seen for the first time; criteria are shown in Table 27.2. If this suggests an inherited predisposition, then referral to Clinical Genetics services should be offered. This ensures access to (1) accurate risk-assessment, (2) explanation of genetic testing and its implications (3) enrolment in screening programs and clinical trials and (4) referral to a surgeon experienced in risk-reducing procedures. Identifying a predisposition to cancer can affect the patient’s psychological and physical well-being and has implications for their blood-relatives. This requires sensitive handling.

Accurate documentation of the types of cancer in a family and their age of onset is crucial. Where possible cancer registration documents, death certificates or histopathology reports should be obtained. For example, ovarian cancer is reported correctly by family members in only two-thirds of cases [3] and some histological subtypes may not be associated with a genetic cancer predisposition [4]. This information can modify the level of risk. Fabricated family histories have been reported, emphasizing the need to confirm cancer diagnoses [5]. For Lynch syndrome, initial testing is performed on archival tumor samples and these need to be requested. Clinical Genetics services have the infrastructure for obtaining cancer documentation and tumor samples. Surgeons involved in managing women at high risk should liaise closely with them. This is a rapidly evolving field and it is likely that current guidelines on who can be offered genetic testing will be broadened.

For women whose high-risk status is confirmed, the principal management option is risk-reducing surgery (Table 27.1). The decision to undergo surgery will be influenced by a woman’s age, menopausal status and fertility wishes as well as her cancer risk [6]. Women wishing to delay surgery or those who decline surgery altogether, may wish to undergo cancer screening. Currently, no form of gynecological cancer screening has been shown to reduce mortality in high-risk families [7, 8]. If screening is performed, the woman and her clinicians need to be aware of the significant limitations and the possibility of psychological distress [9] and surgery for false-positive results [7]. Lifestyle modifications may affect risk, but should not be relied on to prevent cancer in high-risk women.

Risk-reducing surgery is surgery to prevent the occurrence of a specific type of cancer in at-risk women. The term ‘risk-reducing’ is preferred to ‘prophylactic’ as it correctly implies that not all cancers can be prevented. In the case of risk-reducing salpingo-oophorectomy (RRSO) for women at risk of BRCA1 and BRCA2 mutation-associated tubal and ovarian cancer, RRSO cannot prevent primary peritoneal cancer. RRSO may reduce (but not eliminate) the risk of breast cancer when performed before natural menopause.

Health-care professionals and women considering surgery should understand that risk-reducing surgery is being offered to prevent future ill-health, not to treat an established problem. As cancer penetrance is incomplete, cancer may never develop even if surgery is not performed. There are no tests which can accurately predict whether a woman will go on to develop cancer or not, even if she is high-risk. Once she has understood her risk level she needs to balance this against the risk of surgical complications. Fortunately, the majority of women considering risk-reducing surgery are young and fit.