Hemminki K, Eng C
Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120 Heidelberg, Germany.
J Med Genet. 2004 Nov;41(11):801-7. doi: 10.1136/jmg.2004.022731.
Familial cancer clustering, without obvious heritability, poses a major challenge for current cancer risk assessment and management. Reliable determination of familial risks for cancer is important for clinical genetic counselling, but medically verified data on familial risks for many malignancies have been limited. However, the nationwide Swedish Family-Cancer Database allows a reliable characterisation of familial risk for all major neoplasms. Even though alert genetic counsellors and certainly clinical cancer geneticists will consider familial cancer clustering in their purview, the standard medical referral systems, which have already been shown to be poor in capturing and referring families at high risk for heritable cancers, are unlikely to ascertain familial aggregations of other cancers that are not known to belong to an inherited cancer syndrome. The data will be helpful in implementing evidence based guidelines for helping the general medical system to ascertain and refer even familial cancer clusters to cancer genetics professionals.
家族性癌症聚集现象，在没有明显遗传力的情况下，给当前的癌症风险评估和管理带来了重大挑战。准确确定癌症的家族风险对于临床遗传咨询很重要，但许多恶性肿瘤家族风险的医学验证数据一直有限。然而，瑞典全国性的家族癌症数据库能够可靠地描述所有主要肿瘤的家族风险。尽管警惕的遗传咨询师以及临床癌症遗传学家肯定会将家族性癌症聚集纳入他们的工作范围，但标准的医疗转诊系统在识别和转诊遗传性癌症高危家庭方面已被证明效果不佳，不太可能确定其他不属于遗传性癌症综合征的癌症的家族聚集情况。这些数据将有助于实施基于证据的指南，以帮助普通医疗系统识别甚至将家族性癌症聚集转诊给癌症遗传学专业人员。
