Introduction

Although most ovarian cancers are sporadic and are likely due to the combination of genetic and environmental factors, an estimated 5% to 10% of ovarian cancers are "hereditary," meaning that they are primarily attributable to mutations in a specific gene. At present, the majority of hereditary ovarian cancers can be linked to two currently known syndromes: hereditary breast and ovarian cancer (HBOC) and

Hereditary (~10%)

• 10% site-specific ovarian

Hereditary (~10%)

Undiscovered single genes

HNPCCg

• 10% site-specific ovarian

Undiscovered single genes

HNPCCg

Figure 3-1. Causes of hereditary susceptibility to ovarian cancer. (From ASCO Curriculum: Cancer Genetics and Cancer Predisposition Testing, 2nd ed, 2004, Slide 6-32.)

hereditary nonpolyposis colorectal cancer (HNPCC)1,2 (Fig. 3-1). HBOC syndrome is primarily associated with an increased risk of breast cancer, whereas HNPCC is associated with an increased risk of colorectal cancer.

Recognizing hereditary ovarian cancer not only is an academic exercise but it can be helpful to families for several reasons. For a woman with ovarian cancer, the identification of a mutation can help explain her cancer, as well as predict her risk for other related cancers. For a woman with no personal history of cancer, but with a strong family history of ovarian cancer, it can better help to define her risk of ovarian and other related cancers, enabling consideration of more specific screening and risk reduction options. In both cases, such genetic information can also be useful when assessing risk to family members, particularly children, siblings, and parents. Knowledge of a woman's cancer risk can be used to guide both screening and risk-reduction strategies. Such information may also decrease anxiety, since a woman's perceived risk of developing cancer is often much higher than her actual risk.

The overall goal of cancer risk assessment is twofold: (1) to target high-risk groups with more aggressive screening and risk-reduction strategies so as to increase their overall survival and (2) to minimize overtreatment and its associated complications in low-risk groups.

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