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- FAP, familial adenomatous polyposis
- HNPCC, hereditary non-polyposis colorectal cancer
- MBSS, Miller Behavioural Style Scale
- TMSI, Threatening Medical Situations Inventory
- HADS, Hospital Anxiety and Depression Scale
- SCS, Satisfaction with Genetic Counselling Scale
- MB, monitoring minus blunting
It has been known for some time that cancer is more common in some families than in others.1 The rapid development of human genetics research has shown two highly penetrant breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2.2,3 Approximately 5% of all breast cancers are the result of inherited genetic mutations of these genes.4 Among colorectal cancers, between 2 and 10% are the result of known genetic mutations.5 The most common genetic mutations are located in the APC gene, which causes familial adenomatous polyposis (FAP) and in the DNA mismatch repair genes, predisposing to hereditary non-polyposis colorectal cancer (HNPCC). However, the genetic mutations are still unknown in a large number of families with hereditary breast and colorectal cancers.
As a result of the recent developments in DNA testing and the knowledge that cancer can be hereditary, it is now possible to offer genetic counselling to people within identified “cancer families”, and to inform them about their assumed increased risk for developing cancer. One of the most important components in genetic counselling is the provision of information. Extensive research was performed early on principles for providing patient information in a general medical setting.6 This type of information is usually fairly simple and concerns mainly the patient him/herself. In contrast, the information in genetic counselling is often highly complex, including risk estimates and aspects of heredity involving family members. The recall of risk estimates after counselling among women with a family history of cancer has been found to be poor.7,8 Studies have been performed of the psychological impact of informing subjects about their risk for developing hereditary cancer,9 showing that their psychological reactions are not related directly to the risk estimates.10,11 In subjects who were DNA tested for Huntington’s …
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