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遗传性乳腺癌的表型变异。对癌症控制的影响。

Phenotypic variation in hereditary breast cancer. Cancer control implications.

作者信息

Lynch H T, Conway T A, Lynch J F

机构信息

Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Neb.

出版信息

Arch Surg. 1994 Aug;129(8):806-13. doi: 10.1001/archsurg.1994.01420320028005.

Abstract

OBJECTIVE

To study hereditary breast cancer pedigrees as models for the elucidation of the natural history of the disease, including early onset; bilaterality; and tumor associations in the heterogeneous variants to aid in its diagnosis and in targeting surveillance and treatment strategies.

SETTING

Oncology clinic and hereditary cancer institute.

PATIENTS AND OTHER PARTICIPANTS

Physician- or self-referral probands.

INTERVENTIONS

None.

MAIN OUTCOME MEASURE

Greater understanding of the diagnosis, surveillance, and treatment of hereditary breast cancer.

RESULTS

Eighteen pedigrees displayed the phenotypic variation of breast cancer's natural history, obligate gene carriers, and patterns of tumor combinations consonant with genetic heterogeneity.

CONCLUSION

Hereditary breast cancer is an important public health problem accounting for about 9% of breast cancer cases. The recent identification of a molecular basis for the identification of a subset of hereditary breast cancer, and thereby the likelihood of the sequencing and cloning of the susceptibility gene(s), will enable targeting of surveillance and treatment measures toward patients at an inordinately high risk of developing cancer. Central to this entire process will be the identification of families with hereditary breast cancer.

摘要

目的

研究遗传性乳腺癌家系,以此作为阐明该疾病自然史的模型,包括发病早、双侧性以及异质性变异中的肿瘤关联,以辅助诊断并制定监测和治疗策略。

地点

肿瘤诊所和遗传性癌症研究所。

患者及其他参与者

经医生转诊或自我转诊的先证者。

干预措施

无。

主要观察指标

更深入了解遗传性乳腺癌的诊断、监测和治疗。

结果

18个家系呈现出乳腺癌自然史的表型变异、必然的基因携带者以及与基因异质性相符的肿瘤组合模式。

结论

遗传性乳腺癌是一个重要的公共卫生问题,约占乳腺癌病例的9%。最近对遗传性乳腺癌一部分病例的分子基础的鉴定,以及由此对易感基因进行测序和克隆的可能性,将使监测和治疗措施能够针对患癌风险极高的患者。整个过程的核心将是识别患有遗传性乳腺癌的家庭。

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