如果您有乳腺癌的家族史，您可能会想知道自己的疾病的机会是什么。

Thanks to genetic research, this is a much easier question to answer. Mutations in two genes — BRCA1 and BRCA2 — have been identified as a primary genetic cause of breast cancer.

Not everyone who gets breast cancer inherits it through their family history. And not everyone with mutations in their BRCA1 or BRCA2 genes will develop breast cancer. But having these specific mutations does greatly increase your risk of developing breast cancer during your lifetime.

让我们看一下这些基因突变如何促进癌症，如何找出是否有这些突变以及谁是基因检测的良好候选者。

Cancer is a health condition that can be caused by changes to your genes. Your genes carry instructions that tell the proteins in your cells how to behave.

When your genes cause proteins and cells to develop in abnormal ways, it can become cancer. This can happen because of a gene mutation.

It’s possible to be born with certain gene mutations. This is called an inherited mutation. Somewhere between 5％至10％ of breast cancers are currently thought to be hereditary. Your genes may also mutate later in life due to environmental or other factors.

一些特定的突变可以在患乳腺癌中发挥作用。受影响的基因往往是控制细胞生长和生殖器官和乳腺组织中的DNA之类的基因。

BRCA1和BRCA2genes typically make proteins that can repair your DNA when it gets damaged, particularly in your breasts and ovaries. When these genes are mutated, it can cause abnormal cell growth. These cells can then become cancerous.

关于 每100名女性中有50个 born with a BRCA gene mutation will develop breast cancer by the time they’re 70 years old, according to the Centers for Disease Control and Prevention (CDC). They also have an increased risk of developing other cancers, including:

People born with a penis and who have the BRCA2 mutation have an increased risk of developingmale breast cancer.

Your risk for having BRCA1 or BRCA2 mutations may be higher if you have:

  • multiple family members who have been diagnosed with breast cancer
  • 在50岁之前患上乳腺癌的亲戚
  • any family members who were diagnosed with ovarian cancer
  • 任何患有乳腺癌的男性亲戚
  • 您家庭中同时发展乳腺癌和卵巢癌的任何人
  • 您家庭中的某人已经接受了测试并发现携带BRCA基因突变

除了BRCA和BRCA2外，如果您继承突变，还有其他基因可以增加患乳腺癌的风险。

These genes include:

  • CDH1。Mutations in CDH1 put you at a较高的风险of developing hereditary diffuse stomach cancer (gastric cancer). This mutation also increases your risk of lobular breast cancer.
  • palb2。该基因与您体内的BRCA基因合作。PALB2基因突变的人是 9.47 times 比没有这种突变的人更有可能发展乳腺癌。
  • PTEN。这是调节细胞生长的基因。PTEN突变会导致Cowden综合征，这种情况是增加您的风险像在乳腺癌中发现的良性和癌性肿瘤一样。
  • TP53.Mutations in TP53 can lead to Li-Fraumeni syndrome, a condition that predisposes your body 到几种不同类型的癌症，包括乳腺癌和脑肿瘤。

If you meet any of the criteria that increases your risk of having BRCA1 or BRCA2 mutations, as listed above, you may be considering genetic testing.

BRCA1或BRCA1的基因测试通常是简单的血液或唾液测试。交谈和医生处方后，您将抽出抽血或唾液样本并送到实验室。实验室寻找突变，医生会打电话给您结果。

您还可以向直接面向消费者的公司支付未经医生转诊的情况下进行测试。但是这些测试只要test for BRCA1 and BRCA2 gene mutations. They can’t rule out any and all factors that could increase your risk of breast cancer.

If you’re curious about other genetic mutations that you may have, you’ll need to speak with a doctor about getting tested for those mutations, too.

The 国家综合癌症网络 offers criteria for who should consider getting a genetic test for BRCA1 and BRCA2 mutations, in addition to other gene mutations including those discussed above. Just know that insurance may not always cover genetic testing.

Currently, these tests aren’t seen as necessary or recommended for the general public. Genetic testing is only recommended if you have a family history of breast cancer or ovarian cancer.

18岁以下的儿童是 目前不建议 to get genetic testing for BRCA mutations. This is because there are no preventive measures that can be taken at that age and very little chance of children developing the types of cancers connected to these mutations.

BRCA1和BRCA2被称为“乳腺癌通用电气nes.” The genes themselves aren’t what increase your risk of breast cancer, because everyone has them. Mutations in the genes can produce an increased risk of breast cancer, ovarian cancer, and several other types of cancer.

For this reason, people with a family history of breast cancer are getting genetic testing to see if they have the mutation. Having the mutation doesn’t necessarily mean that you’ll develop breast cancer. Knowing your risk may make you feel more at ease, or it might make you anxious.

如果您有乳腺癌的家族史，请与医生谈论有关这些突变基因测试的利弊。