Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Institut für Medizinische Biometrie, Informatik und Epidemiologie (IMBIE), University of Bonn, Bonn, Germany.
Fam Cancer. 2024 Nov;23(4):473-478. doi: 10.1007/s10689-024-00357-4. Epub 2024 Jan 27.
Lynch syndrome (LS; HNPCC) patients carry heterozygous pathogenic germline variants in mismatch repair (MMR) genes, which have also been shown to play an important role in meiosis. Therefore, it was hypothesized, that LS might be associated with a higher risk for premature ovarian failure (POF) or earlier menopause. Data on medical gynaecological history, cancer diagnoses and therapy were collected from 167 female LS patients and compared to a population-based control cohort. There was no difference between the age of menopause in patients compared to controls and no evidence for a higher risk of POF in LS patients. However, around one third (35%) of the probands have already had premenopausal cancer and mostly cancer-related treatment affecting fertility before the age of 45 years. Therefore, childbearing time might still be limited in these patients, especially due to the premenopausal cancer risk. LS patients should be informed in time about the elevated premenopausal cancer risks and the possible impact on family planning. This is particularly relevant since the average childbearing age has increased during the last decades.
林奇综合征（LS；HNPCC）患者携带错配修复（MMR）基因的杂合致病性种系变异，这些变异也被证明在减数分裂中起着重要作用。因此，有人假设 LS 可能与卵巢早衰（POF）或更早绝经的风险增加有关。从 167 名女性 LS 患者中收集了有关妇科病史、癌症诊断和治疗的医疗数据，并与基于人群的对照组进行了比较。与对照组相比，患者的绝经年龄没有差异，LS 患者也没有 POF 风险增加的证据。然而，大约三分之一（35%）的先证者已经在 45 岁之前患有绝经前癌症，并且大多数与癌症相关的治疗会影响生育能力。因此，这些患者的生育时间可能仍然有限，尤其是由于绝经前癌症风险。LS 患者应及时了解到绝经前癌症风险增加，并可能对计划生育产生影响。由于过去几十年平均生育年龄有所增加，因此这一点尤其重要。
