概述
乳腺癌精准医疗是一种诊断、治疗和预防方法，该方法会考虑您的先天基因（您的基因组成）以及癌细胞内存在的基因或其他标记。通过这种方法，可以收集您的血液或肿瘤组织进行分析（通常是遗传学分析）。该信息可以帮助预测或诊断疾病并指导治疗决策。
癌症护理是最早使用精准医疗的医学专业之一。有几种针对乳腺癌的基因和非基因检测可有助于个性化治疗。一些基因检测专门针对遗传风险，这意味着这种检测会检查您的遗传组成，以确定您一生中患乳腺癌或其他类型癌症的个人风险。遗传风险约占所有乳腺癌病例的 10%。
其他基因检测还可以检查癌细胞内的遗传变化或变异（有时称为突变），以帮助确定最有可能使您获益的治疗方法或者您是否需要某种治疗方法。例如，可以检测来自乳腺肿瘤的细胞，以确定它们是否会产生过量的 HER 2 蛋白。HER 2 阳性乳腺癌患者可能会对靶向该蛋白的药物产生反应。一些基因检测将表明您的身体是否会激发（激活）某些药物，从而有助于确定哪种疗法最适合您。
最终，随着精准医疗（也称为个体化或个性化医疗）的新发展，将出现更多更精确的选择。
目的
乳腺癌精准医疗的目标是根据您特定的基因组成和癌细胞中的基因变化进行定制化治疗。
乳腺癌精准医疗需要分析细胞的基因组成，如果您患有癌症，还需要分析癌细胞的组成。检查可能包括：
- 药物基因检测。您的基因可能会影响您的身体处理药物的方式，包括用于治疗乳腺癌的药物。医生会利用您的细胞的基因检测信息确定哪种药物和剂量最适合您。药物基因相互作用的领域被称为药物基因组学。
- 晚期癌症。如果您的癌症在治疗后仍在恶化，医生可能会建议您检测癌细胞的基因组成。这种检测被称为肿瘤测序，用于检查癌症有无变化或改变，以便医生针对您的肿瘤类型选择最合适的药物。
- 家族史。对于有严重乳腺癌家族病史的患者，建议通过基因检测来检测可能增加乳腺癌发病风险的遗传基因突变，如 BRCA 基因。与普通人群相比，拥有这些基因的女性患乳腺癌的风险更高。这项检测也可以用于确定治疗转移性乳腺癌的特定药物（Parp 抑制剂）是否对您有效。另外，根据患者的家族癌症病史，也可以进行更新的基因检测。
风险
The risks of precision medicine for breast cancer depend on the procedure involved. For example, genetic testing may involve taking a blood sample. Taking a sample of blood has a small risk of bleeding and infection.
Testing your cancer cells may require a biopsy to collect some cells. A biopsy procedure also has some risks. For example, using a needle to get the sample may cause bruising and soreness in the area. Talk with your healthcare team about the procedures you'll have and the related risks.
可能出现的情况
What you can expect with precision medicine will depend on why it's being done. Precision medicine for breast cancer is often used to find the treatment that is most likely to help you. It also might be used in the diagnosis and prevention of breast cancer.
Examples of precision medicine for breast cancer include:
Testing your DNA to find the right medicine
The DNA inside your cells gives the cells the instructions they need to do their jobs. Variations in your DNA can affect how your cells work. For example, cells that help your body process medicines might work in different ways, depending on your DNA. Variations in your DNA could make a medicine less effective for you. Or because of the variations, you may be more likely to have certain side effects.
Precision medicine can help your healthcare team select the right medicine for you based on your DNA. Genetic testing to find the right medicine is sometimes called pharmacogenomics.
Testing your cancer cells to find the right medicine
Cancer often starts when healthy cells become cancer cells. The healthy cells develop changes in their DNA that turn them into cancer cells. Tests can look for these changes inside the cancer cells.
Through the use of precision medicine, your healthcare team can select the medicine that likely will be most effective against your cancer cells. Sometimes this type of testing is used to select targeted therapy medicines. This testing is sometimes called tumor sequencing or biomarker testing.
Looking for DNA changes that run in your family
Some DNA changes are passed from parents to children. A number of these DNA changes can increase the risk of breast cancer. The most well-known DNA changes related to breast cancer are BRCA1 and BRCA2. People with these DNA changes have a very high risk of breast cancer and other cancers.
Precision medicine might offer information that your healthcare team can use to create a personalized prevention and screening plan based on the results of your genetic testing. Medicines and operations to lower the risk of cancer might be options for you if you have these DNA changes.
结果
The result of precision medicine for breast cancer is treatment or care that is personalized for you. Discuss your treatment plan with your healthcare team. Your care team can explain when you might start to see some results from your treatment.