Karlan Beth Y, Berchuck Andrew, Mutch David
Women's Cancer Research Institute, Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of Los Angeles, Los Angeles, California 90048, USA.
Obstet Gynecol. 2007 Jul;110(1):155-67. doi: 10.1097/01.AOG.0000269050.79143.84.
Genetic counseling and testing for inherited disorders are part of every obstetrician-gynecologist's practice. Family history, ethnicity, and race are routinely evaluated as a part of the prenatal assessment. The discovery of genes responsible for inherited cancer susceptibility and the wide availability of clinical genetic testing for mutations in these genes have made similar assessments an integral part of gynecologic practice as well. The indications for genetic testing for mutations in BRCA1, BRCA2, and the mismatch repair genes responsible for the hereditary nonpolyposis colon cancer (HNPCC) syndrome need to be individualized. As in obstetrics, genetic counseling can provide critical assessment of the family history to help determine the likelihood of an inherited cancer susceptibility syndrome and the appropriateness of genetic testing. The subsequent clinical recommendations for mutation carriers need to take into account the patient's age, desire for future childbearing, and other medical history when prescribing screening interventions or prophylactic surgery. Practical applications of genetic testing for cancer susceptibility have the ability to reduce the burden of hereditary cancers by saving lives, decreasing medical morbidities, and reducing psychological stress.
遗传性疾病的遗传咨询和检测是每位妇产科医生临床工作的一部分。家族史、种族和民族通常作为产前评估的一部分进行评估。负责遗传性癌症易感性的基因的发现以及针对这些基因中的突变进行临床基因检测的广泛可得性，也使类似评估成为妇科临床工作不可或缺的一部分。对BRCA1、BRCA2以及导致遗传性非息肉病性结直肠癌（HNPCC）综合征的错配修复基因中的突变进行基因检测的指征需要个体化。与产科一样，遗传咨询可以对家族史进行关键评估，以帮助确定遗传性癌症易感性综合征的可能性以及基因检测的适宜性。在为突变携带者制定筛查干预措施或预防性手术时，后续的临床建议需要考虑患者的年龄、未来生育意愿以及其他病史。癌症易感性基因检测的实际应用有能力通过挽救生命、降低医疗发病率和减轻心理压力来减轻遗传性癌症的负担。
