Cybulski Cezary, Nazarali Safia, Narod Steven A
Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Int J Cancer. 2014 Oct 15;135(8):1756-63. doi: 10.1002/ijc.28988. Epub 2014 Jun 19.
There are approximately 100 genes which when mutated are known to predispose to one or more forms of cancer. Currently, genetic testing is offered for many of these, either as single genes or as multi-gene panels. Features of hereditary cancer include a positive family history of cancer, early age of onset and the appearance of multiple primary cancers in one individual. In some cases multiple cancers may be of the same site (e.g., bilateral breast cancer) and in other cases they may be at different sites. Various combinations of cancer sites may be indicative of specific cancer syndromes such as the breast ovarian cancer syndrome. Genetic testing should be offered to individuals who have experienced multiple primary cancers in some circumstances, the genetic counselor should review the ages of sites of cancer, their pathologic features and the family history of cancer as part of the pre-test evaluation.
大约有100个基因,当它们发生突变时,已知会使人易患一种或多种癌症。目前,针对其中许多基因都提供了基因检测,检测方式可以是单个基因检测,也可以是多基因检测组合。遗传性癌症的特征包括癌症家族史呈阳性、发病年龄早以及个体出现多种原发性癌症。在某些情况下,多种癌症可能发生在同一部位(例如双侧乳腺癌),而在其他情况下,它们可能发生在不同部位。癌症部位的各种组合可能表明特定的癌症综合征,如乳腺卵巢癌综合征。在某些情况下,对于经历过多种原发性癌症的个体应提供基因检测,作为检测前评估的一部分,遗传咨询师应审查癌症发生的年龄、部位、病理特征以及癌症家族史。