Crosbie A, Brewer C, Campbell K, MacKay J
Molecular Medicine Centre, Western General Hospital, Edinburgh.
Br J Nurs. 1998;7(22):1386-92. doi: 10.12968/bjon.1998.7.22.5538.
Most breast cancer is multifactorial in origin, but dominantly inherited genes are implicated in the development of approximately 5-10% of breast cancer as a whole. The identification of the BRCA1 gene, thought to account for 2% of all breast cancer and be present in almost all families affected by breast and ovarian cancer, makes testing for susceptibility to breast and ovarian cancer possible for the few families in which researchers have identified a gene mutation. Genetic counselling, by medically qualified geneticists, is available for people with rare genetic conditions caused by gene mutations. In this article, the authors describe their first experience of BRCA1 gene testing in 23 family members. They identify a unique role within a new specialty, cancer genetics, for specialist nurse practitioners in genetic testing and counselling.
大多数乳腺癌的发病源于多种因素，但约5% - 10%的乳腺癌整体发病与显性遗传基因有关。BRCA1基因的发现，被认为占所有乳腺癌病例的2%，且几乎存在于所有受乳腺癌和卵巢癌影响的家族中，这使得研究人员已鉴定出基因突变的少数家族能够进行乳腺癌和卵巢癌易感性检测。具有医学资质的遗传学家可为因基因突变导致的罕见遗传病患者提供遗传咨询。在本文中，作者描述了他们对23名家庭成员进行BRCA1基因检测的首次经验。他们确定了专科护士从业者在基因检测和咨询这一新领域——癌症遗传学中所发挥的独特作用。
