U.T.M.D. Anderson Cancer Center, Department of Gynecologic Oncology, Unit 1362, PO Box 301439, Houston, TX 77230-1439, USA.
Fam Cancer. 2011 Jun;10(2):193-7. doi: 10.1007/s10689-011-9418-1.
10-15% of invasive epithelial ovarian cancer is attributable to hereditary breast and ovarian cancer. The identification of BRCA1/BRCA2 mutations in women with ovarian cancer allows for accurate predictive genetic testing of their at-risk relatives, who can then avail themselves of early detection and risk reduction strategies. In the case of women with recurrent progressive ovarian cancer, the window of opportunity for genetic testing can be particularly limited. Here we describe our perspective on providing genetic counseling during these patients' end of life care, incorporating two illustrative examples from our clinical practice. While these situations pose unique challenges, they also present a significant opportunity to benefit the patient and her family. Further attention and research should be directed towards provision of genetic counseling and testing during end of life care.
遗传性乳腺癌和卵巢癌占侵袭性上皮性卵巢癌的 10-15%。在卵巢癌患者中发现 BRCA1/BRCA2 突变，可对其高危亲属进行准确的预测性遗传检测，以便他们采取早期检测和降低风险的策略。对于患有复发性进行性卵巢癌的女性，进行基因检测的机会窗口可能特别有限。在此，我们描述了在患者临终关怀期间提供遗传咨询的观点，并结合了我们临床实践中的两个实例。虽然这些情况带来了独特的挑战，但也为患者及其家属带来了重大的获益机会。应进一步关注和研究在临终关怀期间提供遗传咨询和检测的问题。
