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Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults.
Journal of Genetic Counseling ( IF 1.9 ) Pub Date : 2020-04-18 , DOI: 10.1002/jgc4.1278
Nykole Sutherland 1 , Whitney Espinel 2 , Marissa Grotzke 3, 4 , Sarah Colonna 2, 3
Affiliation  

Transgender (TG) individuals have higher rates of mortality associated with cancer diagnoses, in part due to avoidance of gender‐assigned cancer screenings resulting in later stages at diagnosis. Knowledge about the risks of breast or gynecological cancer in TG and nonbinary (NB) persons receiving gender‐affirming hormone therapy is limited. Even less information exists regarding the subset of individuals with genetic predisposition for these malignancies. We performed a retrospective literature review of studies from the last 15 years on breast cancer rates and identified risks in TG persons. An accumulating body of data on breast cancer incidence in TG persons suggests higher than previously believed rates of breast cancer in TG women compared with cisgender men and risk correlating with duration of hormone use. Few studies have examined other cancer risks in TG populations. To date, only three publications address the association with BRCA1/2 mutation presence and breast cancer incidence in TG persons. Meanwhile, there is growing awareness and social acceptance of TG/NB identities coupled with recognition of gender dysphoria at increasingly earlier ages. No information directly addressing cancer risk counseling in TG/NB adolescents and young adults with a family history of cancer or hereditary cancer syndrome exists. Whether the presence of a known genetic predisposition or strong family cancer history may affect cancer risk in these populations is unknown, leading to significant gaps in clinicians’ ability to accurately and appropriately estimate cancer risks and counsel those with genetic predisposition on the risks/benefits associated with surgical options and the initiation, duration, and dosing of gender‐affirming hormone therapies. A series of three cases illustrates the utility of cancer risk assessment and genetic testing in TG/NB adolescents and young adults, and the unique challenges and unanswered questions that are encountered in the process.

中文翻译:

未回答的问题:变性青少年和年轻人的遗传性乳腺癌和妇科癌症风险评估。

跨性别(TG)个体与癌症诊断相关的死亡率较高,部分原因是由于避免了按性别分配的癌症筛查,从而导致了诊断的后期阶段。对于接受性别确认激素治疗的TG和非二元(NB)患者,关于乳腺癌或妇科癌症风险的知识是有限的。关于这些恶性肿瘤具有遗传易感性的个体子集的信息甚至更少。我们对过去15年中有关乳腺癌发生率的研究进行了回顾性文献综述,并确定了TG患者的风险。大量有关TG患者乳腺癌发病率的数据表明,与顺式男性相比,TG女性乳腺癌的发病率要高出以前的估计,而且其风险与激素使用时间有关。很少有研究检查TG人群的其他癌症风险。迄今为止,只有三本出版物论述了与BRCA1 / 2TG人群中突变的存在和乳腺癌的发病率。同时,人们对TG / NB身份的认识和社会接受度不断提高,并且在越来越小的年龄就认识到性别焦虑症。没有信息直接涉及在有癌症家族史或遗传性癌症综合征的TG / NB青少年中的癌症风险咨询。尚不清楚是否存在已知的遗传易感性或家族癌症的悠久历史可能会影响这些人群的癌症风险,从而导致临床医生准确,适当地估计癌症风险并就具有遗传易感性的人士就相关风险/益处进行咨询的能力存在重大差距以及外科手术选择以及确认性别的激素疗法的开始,持续时间和剂量。
更新日期:2020-04-18
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