Can you inherit risk for breast cancer? Sometimes. 每个人身体的每个细胞中都有两种类型的乳腺癌(BRCA)基因. When functioning properly, BRCA1 and BRCA2 repair DNA, keep other genes healthy, and prevent cancerous changes in the cells.

当一个突变破坏了这些基因中的任何一个，这个人患癌症的风险就会增加. 遗传受损的BRCA1或BRCA2基因副本会增加患乳腺癌的风险 breast cancer and ovarian cancer in women and the risk for breast and prostate cancer in men, as well as other cancers.

以下是你需要了解的乳腺癌遗传因素, 哪些人可能有患癌风险，以及携带BRCA突变的人如何与医生合作预防癌症.

BRCA Mutation: What You Need to Know

• BRCA基因突变可能发生在女性和男性身上，并由他们的亲生子女遗传.
• Men with the mutation are more likely to be silent carriers; women are more likely to develop cancer.
• BRCA1和BRCA2基因约占具有可识别遗传原因的遗传性癌症家庭的一半. 其他遗传性乳腺癌与不太常见的基因突变有关, such as PALB2, ATM, CHEK2, CDH1, STK11, PTEN, TP53 and NF1.
• 接受检查并与医生一起采取预防措施可以降低患癌症的风险, even if you are BRCA1- or BRCA2-positive.

BRCA1 vs. BRCA2

What is the difference between these two cancer genes? 无论是BRCA1基因还是BRCA2基因发生突变，都会影响一个人对特定类型癌症的易感性.

For instance, BRCA1基因突变与乳腺癌风险增加有关, including triple-negative breast cancer, which can be aggressive and challenging to treat. 携带BRCA2基因突变的男性在一生中有6%的几率患乳腺癌, 相比之下，携带BRCA1基因突变的男性终生患病风险为1%.

Are there symptoms of BRCA gene mutation?

No, BRCA1或BRCA2基因突变并没有引起乳腺癌的具体症状, 但如果你有，医生可能会建议你做一个测试和适当的筛查 risk factors. It helps to know whether or not you carry a mutation, so if cancer does occur, it can be diagnosed early.

Risk Factors for BRCA Gene Mutation

Who should get tested for BRCA1 or BRCA2 mutation? 如果你或你的亲戚有以下情况，你可能更有可能携带其中一种:

• Breast cancer diagnosed before age 50
• Cancer in both breasts
• A relative with a known BRCA mutation
• Male breast cancer
• 卵巢癌或输卵管癌或腹膜原发癌
• Triple-negative breast cancer
• Breast cancer occurring more than once
• Both breast and ovarian cancer
• Breast cancer or ovarian cancer at any age, 德系犹太人血统(中欧或东欧)

Diagnosis of BRCA1 and BRCA2 Mutation

检测BRCA和其他基因突变可能比以前更简单, 特别是如果你的医生有使用唾液样本的最新基因测试, instead of a blood sample. 

一旦外科医生和肿瘤学家确定推荐十大正规网赌平台的癌症是否与特定的基因突变有关, such as BRCA1, BRCA2 or another type, it’s easier to plan therapy.

New Treatment for BRCA-Related Breast Cancers

BRCA1和BRCA2突变乳腺癌的治疗正在取得进展. 奥拉帕尼(以品牌名Lynparza销售)是一种用于维持治疗成人brca突变癌症的新药物. It is a type of drug called a PARP inhibitor, 限制了一种叫做ADP核糖聚合酶的作用, which is involved in DNA repair. 其他治疗BRCA突变相关癌症的药物也在开发中.

如果我的BRCA突变检测呈阳性，我患癌症的风险是多少?

It is high. 有BRCA突变意味着你一生中有45%到85%的可能性患乳腺癌, along with a 10% to 46% chance of ovarian cancer. 一般人群中患乳腺癌的概率约为12%. 卵巢癌比较罕见，在美国一般癌症患者中占比不到1%.S. population.

I tested positive on the BRCA test. What now?

对于诊断为BRCA1或BRCA2基因突变的患者, careful, 与医生进行频繁和定期的监测可以保障他们的健康. At Johns Hopkins, screening for such patients starts when they reach age 25, with yearly MRIs to look for any signs of cancer, and mammograms when the patient reaches age 30.

对于已完成生育和母乳喂养的brca阳性患者, prophylactic (preventive) mastectomy is discussed. 根据患者的特定突变和其他因素，这并不总是必要的. When the patient reaches age 40, 手术切除输卵管和卵巢(输卵管卵巢切除术)也被考虑, since the risk of ovarian cancer is so high.

I have tested positive for a genetic mutation. Should my children be tested?

大多数与基因突变相关的癌症影响的是成年人. TP53, a rare mutation, 是一个例外:如果你发现你携带了这种基因的突变, 这可能需要与孩子的儿科医生进行讨论, since it raises the risk of certain childhood cancers.

对于携带其他不太可能导致儿童癌症的突变的父母, 当孩子们长大了，能够对他们的照顾做出自己的选择时，就可以——也应该——进行一次谈话.

A Rational Approach to Gene Mutations and Cancer Risk

Not all genetic cancer risks are the same. Some genetic mutations increase the likelihood of cancer dramatically; others, only by a few percentage points. These variations are important for doctors to understand, 所以他们可以和推荐十大正规网赌平台一起制定一个保持健康的合理策略.