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Performance of the IBIS/Tyrer-Cuzick model of breast cancer risk by race and ethnicity in the Women's Health Initiative.IBIS/Tyrer-Cuzick 乳腺癌风险模型在妇女健康倡议中的种族和民族表现。
Cancer. 2021 Oct 15;127(20):3742-3750. doi: 10.1002/cncr.33767. Epub 2021 Jul 6.
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Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons.美国乳腺外科学会关于遗传性乳腺癌基因检测的共识指南。
Ann Surg Oncol. 2019 Oct;26(10):3025-3031. doi: 10.1245/s10434-019-07549-8. Epub 2019 Jul 24.
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The changing landscape of Lynch syndrome due to PMS2 mutations.由于 PMS2 突变导致林奇综合征的变化格局。
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A Dedicated Follow-Up Clinic for BRCA Mutation Carriers.一个针对BRCA突变携带者的专门随访诊所。
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Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort.在英国一个前瞻性筛查队列中,乳腺X线密度提高了泰勒-库齐克模型和盖尔乳腺癌风险模型的准确性。
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Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.遵循美国国立综合癌症网络(NCCN)关于转诊至癌症遗传专业人员的指南的模式。
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Prediction of breast cancer risk based on profiling with common genetic variants.基于常见基因变异谱预测乳腺癌风险。
J Natl Cancer Inst. 2015 Apr 8;107(5). doi: 10.1093/jnci/djv036. Print 2015 May.
8
Myriad Genetics: In the eye of the policy storm.迈锐德遗传公司:政策风暴眼中的焦点。
Genet Med. 2010 Apr;12(4 Suppl):S39-70. doi: 10.1097/GIM.0b013e3181d72661.
9
Projecting individualized absolute invasive breast cancer risk in African American women.预测非裔美国女性个体患浸润性乳腺癌的绝对风险
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A breast cancer prediction model incorporating familial and personal risk factors.一种纳入家族和个人风险因素的乳腺癌预测模型。
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基因家 - 为有癌症遗传倾向的个体提供护理的新模式。

GeneHome - a Novel Model to Deliver Care to Individuals with Genetic Predisposition to Cancer.

机构信息

Department of Breast Surgery, 25301H. Lee Moffitt Cancer Center and Research Institution, Tampa, FL, USA.

出版信息

Cancer Control. 2022 Jan-Dec;29:10732748221109951. doi: 10.1177/10732748221109951.

DOI:10.1177/10732748221109951
PMID:35976772
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9393671/
Abstract

Genetic testing for hereditary cancer predisposition is more widely available, resulting in more patients being identified as carriers of pathogenic variants (PV) of cancer susceptibility genes. PV carriers may be at high risk for multiple cancers of different organ systems. Traditional high-risk cancer screening is often organ specific and conducted separately by specialists. However, with many genes associated with 3 or more types of cancer risks, coordination of such cancer screening can be overwhelming for patients and providers. At Moffitt Cancer Center (MCC), GeneHome clinic functions as a "home" to conduct and coordinate prevention, screening, counseling, and education for individuals carrying germline genetic PVs across the entire spectrum of cancer genes. The screening includes, but is not limited to, history review, physical examination, image studies, blood tests, urine tests, and endoscopy. GeneHome is a novel model for genetic high-risk cancer surveillance and has grown in 4 years since establishment. We sought to study various characteristics of the patient population it serves, common themes in referral patterns and evolution of the clinic since its inception. A total of 821 patients were seen over 42 months, encompassing PV carriers of 46 genes. Patients were 84.9% female and 13.3% male. Most PVs were of and . Most patients had private insurance, and most were from Florida. Annual increase in patient visits was over 74.7% over the last year. Overall, GeneHome has been well accepted by providers and patients and is a valuable service for patients with a genetic predisposition to cancer.

摘要

遗传性癌症易感性基因的遗传检测变得更加广泛,导致更多的患者被确定为癌症易感基因致病性变异(PV)的携带者。PV 携带者可能面临多种不同器官系统癌症的高风险。传统的高危癌症筛查通常是针对特定器官的,由专家分别进行。然而,由于许多基因与 3 种或更多种癌症风险相关,因此协调这种癌症筛查对于患者和提供者来说可能是压倒性的。在 Moffitt 癌症中心(MCC),GeneHome 诊所作为一个“家”,为携带种系遗传 PV 的个体提供预防、筛查、咨询和教育,涵盖整个癌症基因谱。筛查包括但不限于病史回顾、体检、影像学研究、血液检查、尿液检查和内窥镜检查。GeneHome 是一种新型的遗传高危癌症监测模式,自成立以来已经发展了 4 年。我们试图研究其服务的患者人群的各种特征、转诊模式的共同主题以及该诊所自成立以来的演变。在 42 个月的时间里,共有 821 名患者接受了治疗,涵盖了 46 个基因的 PV 携带者。患者中 84.9%为女性,13.3%为男性。大多数 PV 为 和 。大多数患者拥有私人保险,且大多数来自佛罗里达州。去年,患者就诊人数的年增长率超过 74.7%。总的来说,GeneHome 得到了提供者和患者的广泛认可,是癌症遗传易感性患者的一项有价值的服务。