STUDY QUESTION Is there an increased risk of reproductive or colon cancer in women with Turner syndrome and their family members? SUMMARY ANSWER Our data suggest that there is an increased risk for sigmoid colon cancer in women with Turner syndrome and an increased prostate cancer risk in second- and third-degree male relatives. WHAT IS KNOWN ALREADY Turner syndrome has been associated with lower risk of breast cancer, but increased risk of gonadoblastoma and colon cancer in some, but not all studies. There is also evidence for a genetic predisposition to sex chromosome aneuploidy, which may indicate a predisposition to Turner syndrome and the associated cancer risk in family members. STUDY DESIGN, SIZE, DURATION The study was a retrospective case-control study of women with Turner syndrome diagnosed from 1995 to 2021, their relatives, and population subjects from Utah. PARTICIPANTS/MATERIALS, SETTING, METHODS Women with Turner syndrome were identified using International Classification of Disease (ICD) codes in electronic medical records from two major Utah healthcare systems and reviewed for accuracy. Women with Turner syndrome were linked to genealogy in the Utah Population Database. Cancer diagnoses (breast, ovarian, endometrial, colon, testicular, and prostate) were determined for women with Turner syndrome and their relatives using the Utah Cancer Registry. Live births to women with Turner syndrome were identified by linked birth certificates. The relative risk of cancer in women with Turner syndrome and in relatives was estimated by comparison to population rates matched by age, sex, and birthplace. MAIN RESULTS AND THE ROLE OF CHANCE We identified 289 women with Turner syndrome. Sigmoid colon cancer was increased in women with Turner syndrome (OR [95% CI] 24.2 [2.9, 87.4]; P = 0.0032). There were 233 women with Turner syndrome who had at least three generations of genealogical data. There was an increased risk of Turner syndrome in first- (OR [95% CI] 18.08 [2.19, 65.32]; P = 0.0057) and second-degree relatives (9.62 [1.17, 34.74]; P = 0.019), although numbers were very small. There was an increased risk of prostate cancer in second- (1.8 [1.4, 2.2]; P < 0.001) and third-degree relatives (1.3 [1.1, 1.5]; P < 0.001). There was no increased risk of colon cancer in relatives. LIMITATIONS, REASONS FOR CAUTION Based on the small number of sigmoid colon cancer cases, it is possible that our data have overestimated the colon cancer risk. Limitations include the identification of Turner syndrome by a diagnosis code in one of the two major health systems in Utah. The population is largely northern European with 9.3% of the women self-identified as Hispanic and 2.4% as Native American or multiple races. The results may not be generalizable to other populations. WIDER IMPLICATIONS OF THE FINDINGS Our data suggest that women with Turner syndrome may need early screening for colon cancer. Additional studies are needed to identify risk factors for sex chromosome aneuploidy and cancer risk in women with Turner syndrome and their male relatives. STUDY FUNDING/COMPETING INTEREST(S) The work in this publication was supported by R56HD090159 and R01HD099487 (C.K.W.). We also acknowledge partial support for the Utah Population Database through grant P30 CA2014 from the National Cancer Institute. The Utah Cancer Registry is funded by the National Cancer Institute's SEER Program, Contract No. HHSN261201800016I, the US Centers for Disease Control and Prevention's National Program of Cancer Registries, Cooperative Agreement No. NU58DP007131, with additional support from the University of Utah and Huntsman Cancer Foundation. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors have no conflicts of interest. TRIAL REGISTRATION NUMBER N/A.

中文翻译：

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特纳综合征：生育能力、家族聚集性和癌症风险。


研究问题 患有特纳综合征的女性及其家庭成员患生殖癌或结肠癌的风险是否增加？摘要答案 我们的数据表明，患有特纳综合征的女性患乙状结肠癌的风险增加，二级和二级和三级男性亲属患前列腺癌的风险增加。已知的特纳综合征与较低的乳腺癌风险有关，但在一些（但不是全部）研究中，促性腺母细胞瘤和结肠癌的风险增加。还有证据表明性染色体非整倍体的遗传易感性，这可能表明特纳综合征的易感性和家庭成员的相关癌症风险。研究设计、规模、持续时间 该研究是一项回顾性病例对照研究，对象为 1995 年至 2021 年诊断的特纳综合征女性、她们的亲属和来自犹他州的人群受试者。参与者/材料、环境、方法 使用犹他州两个主要医疗保健系统的电子病历中的国际疾病分类 （ICD） 代码识别患有特纳综合征的女性，并审查准确性。患有特纳综合征的女性与犹他州人口数据库中的家谱相关联。使用犹他州癌症登记处确定患有特纳综合征的女性及其亲属的癌症诊断（乳腺癌、卵巢癌、子宫内膜癌、结肠癌、睾丸癌和前列腺癌）。特纳综合征女性的活产是通过关联的出生证明来确定的。通过与年龄、性别和出生地匹配的人口比率进行比较来估计 Turner 综合征女性和亲属患癌症的相对风险。主要结果和机会的作用 我们确定了 289 名患有 Turner 综合征的女性。Turner 综合征女性 （OR [95% CI] 24.2 [2.9, 87.4];P = 0.0032）。有 233 名患有特纳综合征的女性至少有三代的家谱数据。Turner 综合征的风险增加 first- （OR [95% CI] 18.08 [2.19， 65.32];P = 0.0057） 和二级亲属 （9.62 [1.17， 34.74];P = 0.019），尽管数字非常小。第二 （1.8 [1.4， 2.2];P < 0.001） 和三级亲属 （1.3 [1.1， 1.5];P < 0.001）。亲属患结肠癌的风险没有增加。局限性，谨慎的原因 基于乙状结肠癌病例的少量，我们的数据可能高估了结肠癌的风险。局限性包括在犹他州两个主要卫生系统之一中通过诊断代码识别特纳综合征。人口主要是北欧人，其中 9.3% 的女性自我认同为西班牙裔，2.4% 为美洲原住民或多种族。结果可能无法推广到其他人群。研究结果的更广泛意义 我们的数据表明，患有特纳综合征的女性可能需要结肠癌的早期筛查。需要更多的研究来确定 Turner 综合征女性及其男性亲属性染色体非整倍体和癌症风险的危险因素。研究经费/利益争夺 本出版物中的工作得到了 R56HD090159 and R01HD099487 （C.K.W.） 的支持。我们还通过美国国家癌症研究所的拨款 P30 CA2014 感谢对犹他州人口数据库的部分支持。犹他州癌症登记处由美国国家癌症研究所的 SEER 计划资助，合同编号。HHSN261201800016I，美国疾病控制和预防中心的国家癌症登记计划，合作协议编号。 NU58DP007131，得到了犹他大学和亨斯迈癌症基金会的额外支持。内容完全由作者负责，并不一定代表美国国立卫生研究院的官方观点。作者没有利益冲突。试验注册号 N/A。