Testing for mutations of inherited cancer susceptibility genes raises many

Testing for mutations of inherited cancer

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Testing for mutations of inherited cancer susceptibility genes raises many issues for the individual and family, with medical, psychological, and social implications. Hence individuals are strongly recommended to receive genetic counseling prior to testing. Blood samples for genetic testing are accepted only after informed consent has been given. The interventions that can be offered to women with BRCA1 or BRCA2 mutation carriers include intensive screening, chemoprevention, prophylactic mastectomy and/or oophorectomy. There remains insufficient evidence on the effectiveness of intensive surveillance with mammography or the benefits of chemoprevention with selective estrogen receptor modulators in improving health outcomes for women with BRCA1 or BRCA2 mutations. Although the use of MRI, ultrasonography, and mammography in combination has a high sensitivity of 95%, the effect of this increased detection on morbidity and mortality remains unclear. There is however fair evidence that prophylactic surgery for these women significantly decreases the incidence of breast and ovarian cancer. Ooophorectomy reduced ovarian cancer risk by 85-100% and reduced breast cancer risk by 53-68%. Cancer patterns due to an inherited tendency The above examples highlighted several common features that raise the suspicion of hereditary cancer. Often, these cancers first become clinically manifest in young patients.
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