Koen Kortbeek, Robin De Putter, Eline Naert
Department of Medical Oncology, University Hospital Ghent, Ghent, Belgium.
Department of Medical Genetics, University Hospital Ghent, Ghent, Belgium.
Hered Cancer Clin Pract. 2022 Jan 31;20(1):5. doi: 10.1186/s13053-022-00211-7.
We report the case of a breast cancer survivor, diagnosed with an underlying CHEK2 c.1100delC heterozygosity, who developed a papillary thyroid cancer 5 years later. A CHEK2 c.1100delC (likely) pathogenic variant is associated with an increased risk of breast, prostate and colorectal cancer and therefore risk-specific screening will be offered. Current national and international screening guidelines do not recommend routine screening for thyroid cancer. Hence, we reviewed the literature to explore the possible association between a CHEK2 mutation and thyroid cancer. A weak association was found between the various CHEK2 mutations and papillary thyroid cancer. The evidence for an association with CHEK2 c.1100delC in particular is the least robust. In conclusion, there is insufficient evidence to warrant systematic thyroid screening in CHEK2 carriers.
我们报告了一例乳腺癌幸存者的病例，该患者被诊断出存在潜在的 CHEK2 基因 c.1100delC 杂合性，5 年后发生了乳头状甲状腺癌。CHEK2 基因 c.1100delC（可能）致病变异与乳腺癌、前列腺癌和结直肠癌风险增加相关，因此将提供针对特定风险的筛查。目前国家和国际筛查指南不建议对甲状腺癌进行常规筛查。因此，我们回顾了文献以探讨 CHEK2 突变与甲状腺癌之间可能的关联。发现各种 CHEK2 突变与乳头状甲状腺癌之间存在弱关联。特别是与 CHEK2 c.1100delC 关联的证据最不充分。总之，没有足够的证据支持对 CHEK2 基因携带者进行系统性甲状腺筛查。
