VALIDITY OF SELF REPORTED FAMILY HISTORY OF LYMPHOMAS

霍奇金氏病（HD）的风险在患者的家庭成员中增加。如果已知先证报告的HD家族史是准确的，则可以使用新的统计方法和储存的肿瘤组织，在不额外接触患者的情况下进行HD家族关联、遗传模式和易感基因的有效研究。然而，没有关于HD或其他淋巴瘤的自我报告家族史的有效性的数据，HD经常与之混淆。在之前的一项以人群为基础的HD病例对照研究中，我们采访了645名女性，并列举了她们的一、二、三度血亲，我们发现家族性HD明显过量，这是第一次以人群为基础的发现。拟议的R03研究将验证由50个先证者提供的HD和其他淋巴瘤的阳性家族史，对照医疗记录和/或死亡证明报告，探索先证者报告的家族史对未来家族性HD遗传研究的效用，并提供第一个基于人群的验证家族性HD和女性相关风险的描述。研究将：1)通过电话采访33例HD病例和17例人口控制先证者，获取58例HD或其他淋巴瘤血亲的联系方式；2)通过电话联系58名亲属或其近亲属，了解他们的癌症病史，并获得病理报告和出院摘要，或根据需要提供死亡证明，以便进行诊断审查；3)获取诊断文件，根据肿瘤登记标准对诊断进行审核和分类；4)比较报告的和记录的诊断，计算先证者报告的HD和其他淋巴瘤家族史的效度，适用于第一、第二和选定的第三度亲属；5)描述基于原始人群的HD病例系列中验证的家族性HD和相关风险。研究的优势在于：1)包括基于人群的、先证者衍生的第一、第二和选定的第三亲属的历史，因此研究结果既可推广，也可扩展到第一级亲属之外；2) HD和其他淋巴瘤的验证，这两种淋巴瘤均报道于高危家庭，但通常难以区分；3)使用文件层次：医疗记录、死亡证明和亲属自我报告。建立先证者报告的淋巴瘤的有效性将有助于我们确定HD先证者报告的高风险谱系的有效性，通过癌症登记筛查可以有效地识别出足够数量的高风险谱系，并将癌症史验证的文献扩展到包括HD。研究结果也暗示了自我报告淋巴瘤家族史对淋巴瘤家庭成员疾病风险咨询的效用。

Hodgkin's disease (HD) risk is increased in family members of patients. If proband-reported family histories of HD were known to be accurate, efficient studies of HD family association, inheritance patterns and susceptibility genes could be conducted without additional patient contact, using new statistical methods and stored tumor tissues. However, no data exist on the validity of self-reported family history of HD or other lymphoma, with which HD is often confused. In a prior population-based, case- control study of HD for which we interviewed 645 women and enumerated their 1st-, 2nd-, and 3rd-degree blood relatives, we found a significant excess of familial HD, the first such population-based finding. The proposed R03 study will validate the positive family histories of HD and other lymphoma provided by 50 probands, against medical record and/or death certificate reports, to explore the utility of proband-reported family histories for future genetic studies of familial HD, and to provide the first population-based description of validated familial HD and associated risk in women. The study will: 1) interview the 33 HD case and 17 population-control probands by phone for contact information on the 58 blood relatives they had reported as having HD or other lymphoma; 2) contact the 58 relatives or their next-of-kin by phone to obtain their cancer history and access to pathology reports and discharge summaries, or, as needed, death certificates, for diagnostic review; 3) obtain the diagnostic documents, and review and classify diagnoses per cancer-registry standards; 4) compare reported and documented diagnoses to calculate validity of proband-reported family history of HD and of other lymphoma, for 1st-, 2nd-, and selected 3rd-degree relatives; 5) describe validated familial HD and associated risk in the original population-based HD case series. Study strengths are: 1) inclusion of population-based, proband-derived histories for 1st-, 2nd-, and selected 3rd- relatives, so that findings are both generalizable and extend beyond 1st-degree relatives; 2) validation of HD and of other lymphomas, both reported in high-risk families but often hard to differentiate; 3) use of a documentation hierarchy: medical record, death certificate, and relative's self-report. Establishing validity of proband-reported lymphomas will help us determine the usefulness of high-risk pedigrees reported by HD probands, who could be identified for this purpose efficiently and in adequate numbers by cancer-registry screening, and will expand the literature on cancer-history validation to include HD. Study results also have implications to the utility of self- reported family history of lymphoma for counseling lymphoma family members about disease risk.