Plaetke Rosemarie, Thompson Ian, Sarosdy Michael, Harris J M, Troyer Dean, Arar Nedal H
Division of Nephrology, Department of Medicine, MC-7882, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA.
Urol Oncol. 2002 Jan-Feb;7(1):19-27. doi: 10.1016/s1078-1439(01)00132-6.
The success of a genetic family study depends on the recruitment of a sufficient number of unaffected family members. We present our experiences from interviews performed in two family studies, a genetic family study of prostate cancer (PC) and a medical, anthropological, qualitative study. In the genetic family study, 949 PC patients were contacted, and 29% responded. Response rates were higher (44%) among subjects contacted by health providers participating in the study, compared to only 18% of those contacted by letter. Thirty-six pedigrees were ascertained. On average, each family had 3.3 affected relatives. Average age at time of diagnosis was 61.9 years in the probands. 58% of the families reported additional cancers. Breast cancer was reported in 12 families; colon cancer was the second most reported cancer, followed by lung, stomach, and throat cancers. Beliefs about the inheritance of PC were explored with 20 participants. The parental origin of the proband's PC in each family did not significantly affect participants' beliefs about the inheritance of PC. 95% agreed that PC could be inherited from a father to a son. Participants thought that a mother (n = 12) or daughter of a patient (n = 11) could not give PC to their sons. This misperception of the inheritance of PC can result in (1) an underreporting of PC cases in a kindred, and (2) healthy men underestimating their risk of developing PC when the disease runs in the mother's family. Thus health educators and genetic counselors might consider these findings when teaching patients and their relatives about hereditary PC.
一项基因家族研究的成功取决于招募到足够数量的未患病家族成员。我们介绍在两项家族研究中进行访谈的经验，一项是前列腺癌（PC）的基因家族研究，另一项是医学、人类学定性研究。在基因家族研究中，联系了949名PC患者，29%作出了回应。与仅通过信件联系的对象中18%的回应率相比，参与研究的医疗服务提供者联系的对象回应率更高（44%）。确定了36个家系。平均每个家族有3.3名患病亲属。先证者确诊时的平均年龄为61.9岁。58%的家族报告有其他癌症。12个家族报告有乳腺癌；结肠癌是报告的第二常见癌症，其次是肺癌、胃癌和喉癌。与20名参与者探讨了对PC遗传的看法。每个家族中先证者PC的父系或母系来源并未显著影响参与者对PC遗传的看法。95%的人同意PC可以从父亲遗传给儿子。参与者认为患者的母亲（n = 12）或女儿（n = 11）不会将PC遗传给她们的儿子。这种对PC遗传的误解可能导致：（1）一个家族中PC病例报告不足；（2）当家族中母亲一方有PC病史时，健康男性低估自己患PC的风险。因此，健康教育工作者和基因咨询师在向患者及其亲属传授遗传性PC相关知识时，可能会考虑这些发现。
