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Management of familial breast cancer part 1 bio statistical genetic aspects and their limitations as derived from a familial breast cancer resource

Management of familial breast cancer part 1 bio statistical genetic aspects and their limitations as derived from a familial breast cancer resource

Archives of Surgery 113(9): 1053-1058

Practical guidelines are given to promote decision-making logic by the physician in managing patients seeking consultation (consultands) because they may be at high familial risk for breast cancer and associated malignant neoplasms. The protocol is designed to aid in the assessment of patients who may become candidates for intensified cancer surveillance and/or prophylactic surgery. A resource comprised of 90 extended breast cancer-prone pedigrees provided the basis for these specific recommendations. The resource shows marked tumor heterogeneity among pedigrees, an approximate 50% incidence of breast cancer and associated malignancies among offspring of affected parents, and 3-fold higher risk for development of mammary carcinoma in the opposite breast of familial patients with unilateral disease than in sporadic patients. In utilizing this protocol, it is crucial that family history be highly accurate from the standpoint of genealogic relationships and pathologic tumor verification so that management recommendations may reflect sound risk-factor assessment. Interpretation of familial risk factors should ideally be made by an informed medical-geneticist. All members of the medical team should then be appraised of familial risk and collectively engage in decision making with the consultand. This approach may foster more effective control of familial breast cancer.

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