Current
best practices and rationalistic perspectives in causation-based
prevention, early detection and multidisciplinary treatment
of breast and gastric cancer
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REVIEW |
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Choosing
preventive intervention in an individual woman with a BRCA1 or
BRCA2 mutation |
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Angelos
M. Kappas, Dimosthenis Ziogas, Evangelos Paraskevaidis, Michael
Fatouros, and Dimitrios H. Roukos* |
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| ABSTRACT | ||
A decade after the discovery of BRCA1 and BRCA2 genes, the evident very high lifetime risk for breast cancer (~80%) and ovarian cancer (11-55%) for mutation carriers, reveals the urgent need for live-saving preventive intervention. Although scientific knowledge to achieve the goal of a 5-10% annual incidence reduction of breast cancer through identification and prevention of high-risk women exists, lack of good-quality evidence combined with limitations and adverse effects of both genetic testing and preventive interventions (surgical vs, nonsurgical) extremely complicate prevention decisions-making. In the absence of standard family-history and age-based criteria, decisions for offering genetic counselling and mutation testing should balance risks of missing young carriers and adverse effects. Most of these challenges can be resolved if primary care prevention strategy is orchestrated by specialized teams and a new algorithm meeting these requirements is proposed. Although high-quality evidence is still lacking, prophylactic bilateral salpingo-oophorectomy (PBSO) after completion of childbearing (35 to 40 years), appears to be the optimal prevention as compared to bilateral mastectomy or nonsurgical prevention strategies. Chemoprevention and/or surveillance should be considered only for those women who reject prophylactic surgery. |
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