Schneider Katherine A, DiGianni Lisa M, Patenaude Andrea Farkas, Klar Neil, Stopfer Jill E, Calzone Kathleen A, Li Frederick P, Weber Barbara L, Garber Judy E
Population Sciences, Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Genet Test. 2004 Fall;8(3):222-8. doi: 10.1089/gte.2004.8.222.
Cancer risk programs rely on accurately reported family history information. This study compares the accuracy with which cancer sites and ages at diagnosis are reported by Li-Fraumeni syndrome (LFS) and hereditary breast-ovarian cancer syndrome (HBOCS) families undergoing genetic testing. We analyzed the accuracy of 191 cancer diagnoses among first-degree (FDRs) and second-degree (SDRs) relatives reported by 32 LFS and 52 HBOCS participants in genetic testing programs. Cancer diagnoses of relatives were more accurately reported in the HBOCS cohort (78%) than in the LFS cohort (52%). Almost all breast cancer diagnoses were accurately reported, whereas 74% of ovarian cancer diagnoses and only 55% of other LFS-related cancers were accurately reported. Age at diagnosis was accurate within 5 years for 60% of LFS relatives and 53% of HBOCS relatives. Factors correlating with accurate reporting of cancer history included: being member of BRCA1 family, higher education level, female historian, degree of closeness to affected relative, and having fewer than 5 affected FDRs and SDRs. Relying on verbal histories would not have altered eligibility for genetic testing among HBOCS historians, but fewer than half of LFS historians provided information that would have led to TP53 testing. Our data suggest that it may not be necessary to confirm breast cancer diagnoses routinely; however, documentation of other cancer types remains important for appropriate risk assessment and follow-up.
癌症风险评估项目依赖于准确报告的家族病史信息。本研究比较了接受基因检测的李-弗劳梅尼综合征（LFS）和遗传性乳腺癌-卵巢癌综合征（HBOCS）家族报告癌症部位和诊断年龄的准确性。我们分析了32名LFS和52名HBOCS基因检测项目参与者报告的191例一级（FDRs）和二级（SDRs）亲属的癌症诊断准确性。HBOCS队列中亲属的癌症诊断报告准确性（78%）高于LFS队列（52%）。几乎所有乳腺癌诊断都得到了准确报告，而74%的卵巢癌诊断和仅55%的其他LFS相关癌症得到了准确报告。60%的LFS亲属和53%的HBOCS亲属诊断年龄在5年内准确。与癌症病史准确报告相关的因素包括：是BRCA1家族成员、教育水平较高、女性家族史提供者、与受影响亲属的亲近程度，以及受影响的FDRs和SDRs少于5人。依靠口头病史不会改变HBOCS家族史提供者进行基因检测的资格，但不到一半的LFS家族史提供者提供的信息会导致进行TP53检测。我们的数据表明，可能没有必要常规确认乳腺癌诊断；然而，记录其他癌症类型对于适当的风险评估和随访仍然很重要。
