Kępczyński Łukasz, Połatyńska Katarzyna, Nykel Anna, Sałamunia Jordan, Kałużewski Tadeusz, Kużawczyk Andrzej, Gach Agnieszka
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Department of Neurology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Prz Menopauzalny. 2020 Dec;19(4):171-173. doi: 10.5114/pm.2020.101946. Epub 2021 Jan 7.
Germinal pathogenic variants in and genes are associated with high risk of cancers, including breast, ovary, fallopian tubes and primary peritoneal. Non-oncological implications of germline pathogenic variants in and genes, complicating reproductive health are less described. The influence of and on age of natural menopause remains inconclusive and controversial.
PubMed database was searched for potentially relevant abstracts. Studies which were not case-control, cohort or cross-sectional studies were subsequently excluded. Reference lists from systematic reviews or meta-analyses, dealing with the topic of menopause and and germinal pathogenic variants, were also checked to identify eligible studies. We also included our original, unpublished data from families, affected by or pathogenic variant, consisted of at least two postmenopausal female siblings with differing variant status.
Initial database search retrieved 193 abstracts. We identified 4 eligible studies for meta-analysis. Two studies not reporting dispersion measures and not reporting age of natural menopause in control group were left in summary for illustrational purposes, yet were excluded from meta-analysis. 4 studies and our original, unpublished data, combining data from 1535 germinal and pathogenic variant carriers and 3191 control individuals, did not support the hypothesis of association between germinal pathogenic variants of "breast cancer genes" and premature menopause.
BRCA1和BRCA2基因中的胚系致病性变异与包括乳腺癌、卵巢癌、输卵管癌和原发性腹膜癌在内的多种癌症的高风险相关。BRCA1和BRCA2基因胚系致病性变异对生殖健康造成的非肿瘤学影响鲜少被描述。BRCA1和BRCA2对自然绝经年龄的影响仍未定论且存在争议。
在PubMed数据库中搜索潜在相关摘要。随后排除非病例对照研究、队列研究或横断面研究。还查阅了关于绝经以及BRCA1和BRCA2胚系致病性变异主题的系统评价或荟萃分析的参考文献列表，以确定符合条件的研究。我们还纳入了来自受BRCA1或BRCA2致病性变异影响的家庭的原始未发表数据，这些家庭至少有两名绝经后女性兄弟姐妹，其变异状态不同。
初步数据库搜索检索到193篇摘要。我们确定了4项符合条件的研究进行荟萃分析。为了说明目的，两项未报告离散度测量且未报告对照组自然绝经年龄的研究被保留在综述中，但被排除在荟萃分析之外。4项研究以及我们的原始未发表数据，合并了1535名BRCA1和BRCA2胚系致病性变异携带者以及3191名对照个体的数据，不支持“乳腺癌基因”胚系致病性变异与过早绝经之间存在关联的假设。
