Oosterwijk Jan C, de Vries Jakob, Mourits Marian J, de Bock Geertruida H
Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Department of Surgery, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Maturitas. 2014 Aug;78(4):252-7. doi: 10.1016/j.maturitas.2014.05.002. Epub 2014 May 9.
DNA-testing for BRCA1 and BRCA2 has become incorporated in the diagnostic procedure of patients with breast and/or ovarian cancer. Since 1994 an immense amount of information has been gathered on mutation spectra, mutation risk assessment, cancer risks for mutation carriers, factors that modify these risks, unclassified DNA variants, surveillance strategies and preventive options. For the patient and family the main determinator still is whether a mutation is found or not. When a pathogenic mutation is detected in an index case, relatives can opt for pre-symptomatic DNA testing. However in the vast majority no mutation, or only unclear mutations are detectable yet. This means that a hereditary cause cannot be excluded, but pre-symptomatic DNA-testing is still unavailable for relatives. Surveillance for both index cases and relatives is based of the family history of cancer. Next generation genetic testing may help to elucidate genetic causes in these families.
BRCA1和BRCA2的DNA检测已纳入乳腺癌和/或卵巢癌患者的诊断程序。自1994年以来，已收集了大量有关突变谱、突变风险评估、突变携带者的癌症风险、改变这些风险的因素、未分类的DNA变异、监测策略和预防方案的信息。对于患者及其家族来说，主要的决定因素仍然是是否发现了突变。当在索引病例中检测到致病突变时，亲属可以选择进行症状前DNA检测。然而，在绝大多数情况下，尚未检测到突变，或仅检测到不明确的突变。这意味着不能排除遗传原因，但亲属仍无法进行症状前DNA检测。对索引病例和亲属的监测均基于癌症家族史。新一代基因检测可能有助于阐明这些家族中的遗传原因。
