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在资源有限的国家建立乳腺癌临床癌症遗传学项目:挑战与机遇。

Establishment of a clinical cancer genetics program for breast cancer in a resource-limited country; challenges and opportunities.

作者信息

Abdel-Razeq Hikmat, Sharaf Baha, Tamimi Faris, Hani Hira Bani, Alsmadi Osama, Khalil Hanan, Abunasser Mahmoud, Edaily Sarah, Mansour Asem

机构信息

Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan.

School of Medicine, The University of Jordan, Amman, Jordan.

出版信息

Front Oncol. 2024 Oct 23;14:1431985. doi: 10.3389/fonc.2024.1431985. eCollection 2024.

DOI:10.3389/fonc.2024.1431985
PMID:39507757
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11537866/
Abstract

Breast cancer is the most common cancer among women worldwide, and its incidence rate is still increasing, especially among younger women. Nationally, it constitutes one-fifth of all cancer cases and almost 40% of all female cancers. With a median age of 51 years, breast cancer is diagnosed at least a decade earlier, and at more advanced stages compared to Western societies. Hereditary cancers account for 10% or more of all cancer burden worldwide. With expanded indications, increased number of genes tested, and significant decline in cost of testing, such proportion will probably increase. Individuals with pathogenic variants of and are at higher risk of breast, ovarian, pancreatic and many other cancers. Over the past two decades, several highly penetrant cancer-susceptibility genes were identified across almost all tumor sites, thus increasing the need for comprehensive cancer genetic programs that address the testing process, counselling patients and at-risk family members, and then deal with all testing results and its consequences. In addition to its important role in preventing more cancers in index patients themselves and among their close relatives, identification of pathogenic or likely pathogenic variants, mostly in or , may inform therapeutic decisions in common cancers including breast, ovarian, prostate and pancreatic cancers. In this manuscript, we describe the experience of a comprehensive cancer center, in a resource-limited country in establishing a comprehensive clinical cancer genetics program that can serve as an example for others who share similar demographic and financial restrains.

摘要

乳腺癌是全球女性中最常见的癌症,其发病率仍在上升,尤其是在年轻女性中。在全国范围内,乳腺癌占所有癌症病例的五分之一,几乎占所有女性癌症的40%。乳腺癌的诊断中位年龄为51岁,比西方社会至少早十年,且处于更晚期阶段。遗传性癌症占全球所有癌症负担的10%或更多。随着检测适应症的扩大、检测基因数量的增加以及检测成本的大幅下降,这一比例可能会上升。携带特定基因致病变异的个体患乳腺癌、卵巢癌、胰腺癌和许多其他癌症的风险更高。在过去二十年中,几乎在所有肿瘤部位都发现了几个高 penetrant 癌症易感基因,因此越来越需要全面的癌症遗传项目,该项目要涵盖检测过程、为患者和高危家庭成员提供咨询,然后处理所有检测结果及其后果。除了在预防索引患者自身及其近亲患更多癌症方面发挥重要作用外,识别致病或可能致病的变异,主要是特定基因的变异,可能会为包括乳腺癌、卵巢癌、前列腺癌和胰腺癌在内的常见癌症的治疗决策提供依据。在本手稿中,我们描述了一个资源有限国家的综合癌症中心在建立全面临床癌症遗传项目方面的经验,该项目可为其他面临类似人口和经济限制的机构提供范例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/646d/11537866/d4a2000a3fbe/fonc-14-1431985-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/646d/11537866/eedb67f2c32f/fonc-14-1431985-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/646d/11537866/ac802b03104c/fonc-14-1431985-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/646d/11537866/d4a2000a3fbe/fonc-14-1431985-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/646d/11537866/eedb67f2c32f/fonc-14-1431985-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/646d/11537866/ac802b03104c/fonc-14-1431985-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/646d/11537866/d4a2000a3fbe/fonc-14-1431985-g003.jpg

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本文引用的文献

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Implementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study.在阿拉伯人群中实施泛癌种胚系基因检测:约旦探索性癌症遗传学研究。
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Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline Q and A.乳腺癌患者的胚系检测:美国临床肿瘤学会-外科肿瘤学会指南问答
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Cancer statistics, 2024.2024年癌症统计数据。
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Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.乳腺癌患者的种系检测:ASCO-外科肿瘤学会指南。
J Clin Oncol. 2024 Feb 10;42(5):584-604. doi: 10.1200/JCO.23.02225. Epub 2024 Jan 4.
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Breast Cancer in the Arabian Gulf Countries.阿拉伯海湾国家的乳腺癌
Cancers (Basel). 2023 Nov 14;15(22):5398. doi: 10.3390/cancers15225398.
6
Pathogenic germline variants in patients with breast cancer: conversations across generations, practices and patients' attitude.乳腺癌患者的致病性种系变异:跨代交流、实践与患者态度
Front Genet. 2023 Oct 18;14:1194075. doi: 10.3389/fgene.2023.1194075. eCollection 2023.
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Surgical options for patients with early-stage breast cancer and pathogenic germline variants: an oncologist perspectives.早期乳腺癌合并致病性种系变异患者的手术选择:肿瘤学家观点
Front Oncol. 2023 Sep 14;13:1265197. doi: 10.3389/fonc.2023.1265197. eCollection 2023.
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Universal genetic testing for women with newly diagnosed breast cancer in the context of multidisciplinary team care.多学科团队护理中新诊断乳腺癌女性的通用基因检测。
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Breast Cancer (Dove Med Press). 2023 Jan 13;15:1-10. doi: 10.2147/BCTT.S394092. eCollection 2023.
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