Many patients who might benefit from a hereditary cancer risk assessment do not
have a personal history of cancer or may be cancer survivors and hence are no
longer under the care of an oncologist. Opportunities to identify and appropriately
refer these women are, therefore, seen most frequently by primary care
providers and general obstetricians and gynecologists, requiring that such
clinicians have familiarity with—and be watchful for—the features of hereditary
cancer syndromes. As previously stated, the presence of multiple family members
affected with breast and/or ovarian cancer symptoms (or other Lynch/HNPCC-linked
cancers), an early age of cancer development, and the presence of multiple and/
or bilateral primary cancers should be viewed as an indicator for the possible
presence of a hereditary cancer syndrome (27–29).

However, specific clinical parameters exist that can be used to guide referrals to providers with
expertise in hereditary cancer risk assessment. These clinical features highlight
the importance of considering both personal and family history in a comprehensive
evaluation, and underscore the significance of age of disease onset,
ethnicity, and presence or absence of multiple and/or bilateral primary cancers in
both the patient and family member. While these specific criteria identify the
majority of individuals that meet thresholds for genetic evaluation, there are
some patients who may not meet the specific criteria, but may still benefit from
genetic risk assessment.

These individuals include members of families with few female relatives, resulting in an underrepresentation of female cancers despite
the presence of a predisposing family mutation (46,47); families in which
multiple members underwent hysterectomy and/or oophorectomy at a young age,
thus potentially masking a hereditary gynecologic cancer predisposition (48);
and families that include adoption within the lineage.