异常年轻的癌症,或小于 50 岁的乳腺癌、卵巢癌或结肠癌。
同一个人患有几种不同类型的癌。
同一个人,特别是在同一器官(如乳房或直肠)具有多个原发肿瘤。
多个近亲患有相同类型的癌症(如母亲、女儿和姐妹都有乳腺癌),尤其当他们的血缘关系都在同一侧时(母系或父系)。
特定类型癌症的少见表现(如男性乳腺癌)。
已知与遗传性癌症综合征有关的特定良性疾病,特别是皮肤生长或骨骼异常。
成年人中出现提示遗传性癌症综合征几率很高的某些癌症:①三阴乳腺癌(缺乏雌激素或孕激素受体的表达,以及缺乏 HER2 的过表达)(小于 60 岁者 30% 为 HBOC);②上皮性卵巢癌、输卵管癌或腹膜癌,尤其是浆液性癌(10%~15% 为 HBOC);③存在 DNA 错配修复缺陷的结直肠癌(24% 为林奇综合征)。④存在 DNA 错配修复缺陷的子宫内膜癌(12% 为林奇综合征)。
参考文献
1 Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793[J]. Obstet Gynecol, 2019,134(6):e143-e149.
2 Chen LM, Blank SV, Burton E, et al. Reproductive and hormonal considerations in women at increased risk for hereditary gynecologic cancers: Society of Gynecologic Oncology and American Society for Reproductive Medicine Evidence-Based Review[J]. Fertil Steril, 2019,112(6):1034-1042.
3 Practice Committee of the American Society for Reproductive Medicine. Fertility preservation in patients undergoing gonadotoxic therapy or gonadectomy: a committee opinion[J]. Fertil Steril, 2019,112(6):1022-1033.
4 张远丽,陈明明,张师前. 2017 ACOG《遗传性乳腺癌卵巢癌综合征》指南解读(卵巢篇)[J]. 中国实用妇科与产科杂志,2017,33(11):1164-1166.
5 Bennett RL. Family Health History: The First Genetic Test in Precision Medicine[J]. Med Clin North Am, 2019,103(6):957-966.
6 邱琳,李雷,吴鸣. 医疗工作者对妇科肿瘤遗传咨询和检测倾向的问卷调查 [J]. 生殖医学杂志,2018,27(1)1:49-54.
7 Committee opinion no. 634: Hereditary cancer syndromes and risk assessment[J]. Obstet Gynecol, 2015,125(6):1538-1543.
8 Lu KH, Wood ME, Daniels M, et al. American Society of Clinical Oncology expert statement: collection and use of a cancer family history for oncology providers[J]. J Clin Oncol,2014,32:833-840.
9 Bashford MT, Kohlman W, Everett J, et al. Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancerpredisposition assessment[J]. Genet Med, 2019,21(12):2844.
10 Hampel H, Bennett RL, Buchanan A, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment[J]. Genet Med, 2015,17:70-87.
11 Chen LM, Cohn DE, Fishman DA, et al. ACOG Practice Bulletin No.147: Lynch syndrome[J]. Obstet Gynecol, 2014,124(5):1042-1054.
联系客服