Etter John Lewis, Moysich Kirsten, Kohli Shaun, Lele Shashikant, Odunsi Kunle, Eng Kevin H
Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263, USA.
Department of Epidemiology and Environmental Health, State University of New York at Buffalo, Buffalo, NY 14263, USA.
Diagnostics (Basel). 2020 Feb 7;10(2):90. doi: 10.3390/diagnostics10020090.
We recently reported evidence that a strong, BRCA-independent locus on the X-chromosome may contribute to ovarian cancer predisposition in families ascertained from the Familial Ovarian Cancer Registry (Buffalo, NY, USA). While it has been estimated that approximately 20% of all ovarian cancer cases are hereditary, it is possible that a significant proportion of cases previously believed to be sporadic may, in fact, be X-linked. Such X-linked disease has a distinct pattern; it implies that a father will necessarily pass a risk allele to each of his daughters, increasing the prevalence of cancers clustered within a family. X-chromosome inactivation further influences the expression of X-linked alleles and may represent a novel target for screening and therapy. Herein, we review the current literature regarding X-linked ovarian cancer and interpret allele transmission-based models to characterize X-linked ovarian cancer and develop a framework for clinical and epidemiological familial ascertainment to inform the design of future studies.
我们最近报告了证据，表明X染色体上一个强大的、与BRCA无关的基因座可能导致从家族性卵巢癌登记处（美国纽约州布法罗）确定的家族中患卵巢癌的易感性。虽然据估计，所有卵巢癌病例中约20%是遗传性的，但以前被认为是散发性的很大一部分病例实际上可能是X连锁的。这种X连锁疾病有独特的模式；这意味着父亲必然会将一个风险等位基因传递给每个女儿，增加家族中聚集的癌症患病率。X染色体失活进一步影响X连锁等位基因的表达，可能代表筛查和治疗的新靶点。在此，我们回顾了关于X连锁卵巢癌的当前文献，并解释基于等位基因传递的模型，以表征X连锁卵巢癌，并为临床和流行病学家族确定制定一个框架，为未来研究的设计提供信息。
