Sabine Biermann, Michael Knapp, Peter Wieacker, Stefan Aretz, Verena Steinke-Lange
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引用次数: 0
摘要
林奇综合征(LS;HNPCC)患者携带错配修复(MMR)基因中的杂合致病性种系变异,而这些基因在减数分裂过程中也发挥着重要作用。因此,我们推测LS可能与卵巢早衰(POF)或更年期提前的高风险有关。研究人员收集了167名LS女性患者的妇科病史、癌症诊断和治疗数据,并与人群对照组进行了比较。与对照组相比,患者的绝经年龄没有差异,也没有证据表明LS患者患POF的风险更高。不过,约有三分之一(35%)的受试者在45岁之前就已罹患绝经前癌症,而且大多接受了影响生育能力的癌症相关治疗。因此,这些患者的生育时间可能仍然有限,特别是由于绝经前癌症风险。应及时告知 LS 患者绝经前癌症风险的升高以及对计划生育可能产生的影响。这一点尤为重要,因为在过去几十年中,平均生育年龄有所提高。
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients.
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.
期刊介绍:
In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers.
Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician.
The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.