Lynch Henry T, Ferrara Kelly M, Weisenburger Dennis D, Sanger Warren G, Lynch Jane F, Thomé Stephan D
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68178, USA.
Cancer Genet Cytogenet. 2008 Oct 15;186(2):95-102. doi: 10.1016/j.cancergencyto.2008.06.014.
Genetic counseling has become the clinical bedrock of hereditary cancer management. Countless advances in molecular genetics contributing to the identification of cancer-causing germline mutations have increased its importance. We report a unique genetic counseling experience involving a family with hereditary chronic lymphocytic leukemia and the cancer-causing mutation in the death-associated protein kinase 1 gene (DAPK1). This hereditary disorder currently lacks any preventive or curative interventions for mutation carriers. This family has been under our investigation for a decade, during which time genealogy, cancer of all anatomic sites, medical and pathology records, and, whenever possible, slides and tissue blocks were reviewed. Family attendance at three group-oriented family information service sessions provided intensive education about this disease. Blood and skin fibroblasts were obtained for molecular genetic studies of DNA leading to the discovery of the DAPK1 mutation in the family. Their intellectual and emotional reaction to its presence or absence in them was assessed. This family serves as a model for genetic counseling in disorders for which lifesaving intervention is not yet possible.
遗传咨询已成为遗传性癌症管理的临床基石。分子遗传学方面的无数进展有助于识别致癌种系突变，这增加了其重要性。我们报告了一次独特的遗传咨询经历，涉及一个患有遗传性慢性淋巴细胞白血病且死亡相关蛋白激酶1基因（DAPK1）存在致癌突变的家庭。这种遗传性疾病目前缺乏针对突变携带者的任何预防或治疗干预措施。这个家庭已接受我们的调查长达十年，在此期间，我们查阅了家族谱系、所有解剖部位的癌症情况、医学和病理记录，并且只要有可能，还查阅了切片和组织块。家庭成员参加了三次面向群体的家庭信息服务会议，这些会议提供了关于这种疾病的强化教育。采集了血液和皮肤成纤维细胞用于DNA分子遗传学研究，从而发现了该家族中的DAPK1突变。我们评估了他们对自身是否存在该突变的智力和情绪反应。这个家庭可作为尚未有挽救生命干预措施的疾病进行遗传咨询的一个范例。
