Schrader Kasmintan A
Hereditary Cancer Program, BC Cancer Agency, Vancouver, Brirtish Columbia, Canada.
Clin Obstet Gynecol. 2017 Dec;60(4):728-737. doi: 10.1097/GRF.0000000000000319.
Cancer is a disease of the genome, in which mutations in particular genes and pathways give rise to tissue-specific genotype-phenotype correlations. In tumors associated with hereditary cancer syndromes, a person is generally born with the first mutation relevant to the development of their cancer. In this chapter we will discuss the genes that have been associated with germline mutations that confer a moderate to high risk for ovarian carcinoma.
癌症是一种基因组疾病，其中特定基因和信号通路的突变会导致组织特异性的基因型-表型相关性。在与遗传性癌症综合征相关的肿瘤中，一个人通常在出生时就携带了与癌症发生相关的首个突变。在本章中，我们将讨论那些与种系突变相关的基因，这些种系突变会使患卵巢癌的风险处于中度至高风险水平。
