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肿瘤诊所中的家族病史。对癌症遗传学的影响。

Family history in an oncology clinic. Implications for cancer genetics.

作者信息

Lynch H T, Follett K L, Lynch P M, Albano W A, Mailliard J L, Pierson R L

出版信息

JAMA. 1979 Sep 21;242(12):1268-72.

PMID:480539
Abstract

Detailed family histories of cancer were solicited from 200 consecutively ascertained cancer patients undergoing treatment in an oncology clinic. Approximately 18% had two or more first-degree relatives with cancer of any anatomic site. In several cases, striking familial aggregations of cancer fulfilled more rigorous criteria for hereditary cancer syndromes, including early age at onset of generally late-occurring tumors, characteristic tumor patterns, vertical transmission, and collateral family lines similarly afflicted. Review of preexisting clinic charts demonstrated that, in most cases, the family history of cancer had been either omitted altogether, reported as negative despite substantial evidence to the contrary, or, if noted as positive, not pursued or acted on. Family history can be more successfully utilized in recognition of suggestive familial cancer aggregations, ultimate identification of hereditary cancer syndromes, and control of cancer in clinical practice.

摘要

我们向一家肿瘤诊所中连续收治的200名确诊癌症患者详细询问了癌症家族史。约18%的患者有两个或更多患任何解剖部位癌症的一级亲属。在一些病例中,显著的癌症家族聚集符合遗传性癌症综合征更严格的标准,包括通常发病较晚的肿瘤发病年龄早、特征性肿瘤模式、垂直遗传以及同样患病的旁系家族系谱。查阅现有的临床病历发现,在大多数情况下,癌症家族史要么被完全遗漏,要么尽管有大量相反证据却被报告为阴性,或者即使被记录为阳性,也未进一步追查或采取行动。在临床实践中,家族史能够更成功地用于识别提示性的家族性癌症聚集、最终确定遗传性癌症综合征以及癌症控制。

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