Accuracy of family history of cancer: clinical genetic implications
Accuracy of family history of cancer: clinical genetic implications
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DOI：
10.1038/sj.ejhg.5200441
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发表时间：
2000-03-01
影响因子：
5.2
通讯作者：
Cornel, MC
中科院分区：
文献类型：
--
作者：
Sijmons, RH;Boonstra, AE;Cornel, MC
家族病史是家族性癌症临床遗传学诊断和管理的基石。如果家属对受影响亲属的报告不准确，医疗决定的合理性可能会受到影响。因此，虽然很费时间，但家庭病史是例行核实的。为了调查这种验证是否在临床上是合理的，我们回顾性地分析了一系列连续的383个肿瘤报告的准确性，这些报告来自我们诊所的120个家庭的顾问。我们评估了这些家庭的影响，验证临床遗传诊断和管理。根据癌症类型的准确性显示出显着的变化，从93%和89%的乳腺癌和结直肠癌，分别为42%和37%的结直肠外消化道癌和子宫癌。准确性与受影响亲属的亲属关系程度有关，但与咨询者的年龄和性别无关，也与转诊原因或个人癌症史无关。在97%和94%的病例中，分别准确报告了诊断时的年龄和多原发性肿瘤。在120个家庭中，有6个家庭的验证数据改变了临床遗传管理，其中5个家庭的遗传风险降低了。尽管对一个家庭中所有报告的癌症病例的核实仍然是临床和研究目的的“黄金标准”，但对乳腺癌报告的核实可能会受到限制，而不会严重影响医疗决策。在由于无法获得医疗记录而无法进行验证的情况下，我们的研究结果可能有助于解释家族史。
Family medical history is the cornerstone of clinical genetic diagnosis and management in cases of familial cancer. The soundness of medical decisions can be compromised if reports by the family on affected relatives are inaccurate. Although very time consuming, family medical histories are therefore routinely verified. To investigate whether such verification is clinically justified, we retrospectively analysed the accuracy of a consecutive series of 383 tumour reports from counsellees on 120 families in our clinic. We evaluated these families for the impact of verification on clinical genetic diagnosis and management. Accuracy according to cancer type showed marked variation, ranging from 93% and 89% for breast cancer and colorectal cancer, respectively, to 42% and 37% for extra-colorectal alimentary tract cancer and uterine cancer. Accuracy was related to the degree of kinship of the affected relative, but not to age and gender of the counsellee, nor to the reason for referral or personal history of cancer. Age at diagnosis and multiple primary tumours were reported accurately in 97% and 94% of cases, respectively. In six out of 120 families verification data changed clinical genetic management, in five of these the genetic risk was reduced. Although verification of all reported cancer cases in a family remains the 'gold standard' for clinical as well as research purposes, verification of reports on breast cancer can be limited without seriously compromising medical decision making. In cases where verification is impossible because medical records are unavailable, findings from studies such as ours may help in interpreting family histories.