Albano W A, Lynch H T, Recabaren J A, Organ C H, Mailliard J A, Black L E, Follett K L, Lynch J
Cancer. 1981 May 1;47(9):2113-8. doi: 10.1002/1097-0142(19810501)47:9<2113::aid-cncr2820470902>3.0.co;2-s.
Knowledge of cancer genetics provides the physician with a powerful tool for the recognition of patients who might profit from highly targeted cancer surveillance/management programs. Family history was evaluated by registered nurses on 565 consecutively ascertained patients with verified cancer from Creighton's Oncology Clinic. This initial assessment yielded 199 (35.5%) families with two more family members with cancer (all sites) within an informative nuclear component, which constituted parents, grandparents, aunts/uncles, siblings, and children. One or more of the operational criteria for cancer familiality, namely vertical transmission of cancer, bilaterality, and/or multiple primaries, early age of onset, and three or more site specific cancers, were found on physician review in 171 (30.5%) of the families. This group was referred for comprehensive cancer genetic evaluation consisting of pedigree extension and tumor verification through all second degree, and when possible, third degree relatives. It was determined that approximately 4% of the total clinic population demonstrated findings compatible with hereditary cancer syndromes. Its universal extension in clinical practice is advocated because of the potential yield from meticulous surveillance for cancer of highly targeted organs in such high-risk kindreds, as well as the economy and general case of obtaining detailed family history by registered nurses. The physician is able, therefore, to devote his primary effort toward pedigree analysis and syndrome identification.
癌症遗传学知识为医生提供了一个强有力的工具，用于识别那些可能从高度针对性的癌症监测/管理项目中获益的患者。来自克里顿肿瘤诊所的565名经确诊的癌症患者，由注册护士对其家族病史进行了评估。这一初步评估发现，在一个信息丰富的核心家庭成员（包括父母、祖父母、姑姑/叔叔、兄弟姐妹和子女）中，有199个（35.5%）家庭有另外两名以上患癌（所有部位）的家庭成员。在医生复查时，171个（30.5%）家庭发现了一项或多项癌症家族性的操作标准，即癌症的垂直遗传、双侧性和/或多原发癌、发病年龄早以及三种或更多部位特异性癌症。这组患者被转介进行全面的癌症基因评估，包括通过所有二级亲属，并在可能的情况下通过三级亲属进行家系扩展和肿瘤核实。结果确定，诊所总人群中约4%的人表现出与遗传性癌症综合征相符的特征。鉴于对这类高危亲属中高度针对性器官进行细致的癌症监测可能带来的收益，以及注册护士获取详细家族病史的经济性和便利性，提倡在临床实践中广泛应用这种方法。因此，医生能够将主要精力投入到家系分析和综合征识别中。
