Algorithm of preventive care in genetically determined malignancies

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Klin Onkol 2006; 19(Suppl): 88-90.

Summary
Surveillance recommendations to high risk patients with inherited malignancy syndrome are different from generally recommended screening algorithm. Among these high risk patients, the largest number are women with breast and ovarian cancer hereditary syndrome (BRCA1, 2 mutation carriers). To minimize the risk of developing cancer, a number of these patients undergo prophylactic mastectomy and bilateral salpingo-oophorectomy. The women who do not desire prophylactic surgery are offered more intensive surveillance programme – clinical examination, mammography, ultrasound, magnetic resonance imaging at regular intervals.
A similar surveillance regimen is recommended to patients with other hereditary syndromes, who are also at higher risk of developing breast cancer – Cowden syndrom and Li-Fraumeni syndrome.
The surveillance of patients at high risk of colorectal cancer within a recognized inherited cancer syndrom (familial adenomatous polyposis, Lynch syndrome) includes regular GIT examinations, beginning often at early ages. Prophylactic surgery ( profylactic bilateral subcutaneous mastectomy, adnexectomy or subtotal colectomy) appears to be the only primary prevention approach available to date. The lifetime risk of cancer development is significantly reduced in patients undergoing prophylactic surgery. However, there are disadvantages to this solution including serious physical and psychological impairment.

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