基因检测对老年乳腺癌患者有什么作用吗?叙述性回顾

Y. Chang, A. Kwong
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引用次数: 0

摘要

背景与目的:遗传性乳腺癌与发病年龄小有关。然而,最近的一项研究表明,绝经后乳腺癌患者的基因突变发生率为3.5%,明显高于无癌女性的1.3%。这就提出了基因检测是否应该扩展到老年患者的问题。这篇文献综述旨在强调对老年乳腺癌患者进行基因检测的争议,以及他们在基因检测阳性后的后续处理。方法:对PubMed 2000年以来发表的英文论文进行文献检索。关键内容和发现:在BRCA突变携带者中,乳腺癌发病率从成年早期到50岁迅速增加,然后随着年龄的增长而降低。尽管如此,年龄较大的BRCA突变携带者与非携带者相比,乳腺癌发病率更高。在老年乳腺癌患者中实施基因检测应考虑到漏诊的可能性、发现基因突变的好处以及在增加的医疗费用和患者焦虑之间取得平衡。最近的数据表明,绝经后乳腺癌患者65岁前的BRCA1/2突变检出率可能高于传统预期,为2%,而65岁及以上的乳腺癌患者的检出率约为1%。由于死亡率的竞争原因,降低对侧乳房切除术对原发性乳腺癌的好处可能在老年患者中较少,并且与年轻患者相比,对侧乳腺癌的风险较低。结论:目前BRCA突变携带者的管理指南是基于针对年轻人群的证据;目前还没有针对老年突变携带者的具体指南或研究。在管理老年突变携带者时,个体因素,如合并症、竞争性死亡原因、癌症风险和个人偏好都应考虑在内。的
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Does genetic testing have any role for elderly breast cancer patients? A narrative review
Background and Objective: Hereditary breast cancer is associated with young age of onset. However, a recent study showed that the prevalence of genetic mutations in postmenopausal breast cancer patients was 3.5%, which was significantly higher when compared to 1.3% in cancer-free women. This posed the question of whether genetic testing should be extended to older patients. This literature review aimed to highlight the controversies of genetic testing for older breast cancer patients, and their subsequent management after a positive genetic test. Methods: Literature search was performed targeting published papers in English from year 2000 onwards in PubMed. Key Content and Findings: In BRCA mutation carriers, breast cancer incidence rapidly increases from early adulthood until 50 years old, then it reduced with age. Nonetheless, older BRCA mutation carriers have a higher breast cancer incidence when compared to non-carriers. The implementation of genetic testing in elderly breast cancer patients should take into account the chance of underdiagnoses, the benefits of identifying a genetic mutation and balancing it with increased medical cost and patient anxiety. Recent data suggested that BRCA1/2 mutation detection rate in postmenopausal breast cancer patients until 65 years old could be higher than what was traditionally expected, at 2%, while breast cancer patients who were 65 or above had a detection rate of about 1%. Benefits of risk-reducing contralateral mastectomy for primary breast cancer could be less in older patients due to competing causes of mortality, and a lower risk of contralateral breast cancer when compared to their younger counterparts. Conclusions: Current management guidelines for BRCA mutation carriers were based on evidence targeting younger population; there were no specific guidelines or studies targeting older mutation carriers. Individual factors such as comorbidity, competing causes of mortality, cancer risks and personal preference should all be considered when managing elderly mutation carriers. of
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