There is no doubt that some forms of breast cancer can run in families. 但是仅仅因为你的一个亲戚得了乳腺癌并不意味着你也得, too, are destined to develop it. At the same time, if you are at risk, 持续的监测和筛查是很重要的，这样你的医生就可以尽早发现和治疗任何可能出现的乳腺癌.

Anisha Ninan, of the Breast Cancer Program at the Johns Hopkins Kimmel Cancer Center, 帮助您了解遗传性乳腺癌的风险以及如何与您的医生合作以保持健康.

Who is at risk for inherited breast cancer?

“如果你的亲属在年轻时患上乳腺癌，或者你的亲属关系非常密切，那么你患乳腺癌的风险可能会增加, like a mother, sister or daughter,” Ninan says. “近亲中有早发性乳腺癌的家族史可能是研究基因检测的一个原因.”

“综合性乳房中心有经验丰富的乳房专家，他们可以帮助你确定哪种方法最适合你,” she says.

Is there a genetic test for breast cancer?

If you suspect you have a genetic risk for breast cancer, such as BRCA mutation, you may decide to get tested.

基因检测很简单——一种大多数保险公司承保的血液检测. It can take a couple weeks to get results. Ninan says, “对于那些有家庭成员检测出异常乳腺癌基因呈阳性的人, the lab can look for that specific mutation. In these cases, results may take one week.”

Who should be tested for genetic breast cancer risk?

对于任何怀疑自己可能携带增加癌症风险基因的人，Ninan的建议是:从遗传咨询开始.

“决定接受测试是一个重大的决定，并不是一个容易做出的决定. 考虑测试结果对你健康的潜在影响是很重要的, your career, your family and other aspects of your life,” she explains.

“知道结果可能会影响你的健康，也会影响到其他家庭成员, including your siblings and children. For instance, 有基因突变的人有大约50%的机会将这种特征遗传给他或她的孩子.”

Ninan says the guidelines for who should be tested change over time, but in general, your doctor might want to discuss gene testing with you if:

• Someone in your family has tested positive for carrying a mutated gene.
• You are of Ashkenazi Jewish ancestry.
• You were diagnosed with breast cancer before age 50.
• A man in your family has been diagnosed with breast cancer.
• You were diagnosed with ovarian cancer.
• There are multiple breast cancers on one side of your family.
• You or a relative has had cancer diagnosed in both breasts.

基因检测可以从已经患乳腺癌或卵巢癌的家庭成员开始, Ninan says. “If this person is positive for a mutation, 其他家庭成员也可以进行同样的突变检测，以确定谁遗传了这种风险因素.” She notes that if no one in the family is known to carry a mutation, the test is considered “non-informative,” meaning it cannot identify family members at risk.

What happens if my test is positive for hereditary breast cancer risk?

If testing confirms you are at risk, your care provider can work with you on a plan to safeguard your health, which could include:

• High-risk evaluation and monitoring
• 筛查计划，包括数字乳房x光检查和临床乳房检查
• 用于预防乳腺癌发展的激素治疗药物

Preventive (prophylactic) surgery, such as mastectomy with breast reconstruction, 是否仅对侵袭性乳腺癌风险极高的患者才有必要.

“一个综合性的乳房中心提供一个安全和支持的环境，在那里你可以提出问题，并得到最好的答案,” Ninan says. “每个患者在决定如何处理患乳腺癌的风险时，都要对这些决定的复杂性进行敏感和理解.”

Guidelines for Breast Cancer Screening

If you have a genetic risk factor for breast cancer, regular screening is an essential part of your care. 专家可以获得额外的资源来计算患者患乳腺癌的风险, and can use these data to recommend screening schedules. 你的医生会建议一个最适合你的筛查计划.

“At Johns Hopkins, 加强对高危推荐十大正规网赌平台的监测包括每六个月进行一次乳房检查, alternating mammograms with MRI scans to minimize radiation exposure,” says Ninan. “针对有乳腺癌家族史但没有已知基因突变的女性, 筛查可以在家庭中最早诊断年龄的5年前开始. For example, if your mother was diagnosed when she was 35, you should begin screening when you are 30.

“For women with a BRCA1 or BRCA2 mutation, screening could start as early as age 25,” Ninan says. “有人担心，30岁之前进行的乳房x光检查的辐射暴露可能会增加患乳腺癌的风险, especially in BRCA1 and BRCA2 mutation carriers. With that in mind, screening early in life usually consists of breast exams and MRI scans, if called for.

“目前的指导方针建议，如果你一生中患乳腺癌的风险超过20%, you should have a screening breast MRI in addition to your mammogram,” Ninan says, noting that people who carry mutations in BRCA1, BRCA2, PALB2 or CHEK2 will meet this risk threshold, 其他有乳腺癌家族史或乳腺活检史的女性也可能有高危变化(如 atypical hyperplasia).

Choosing Surgery to Prevent Breast Cancer

尼南说，携带BRCA1或BRCA2突变的女性患乳腺癌和卵巢癌的风险很大. “建议在40岁左右预防性切除输卵管和卵巢. 许多携带BRCA1或BRCA2突变的女性也会选择切除乳房. 保留乳头乳房切除术是这些患者的有效选择，”她说.

“选择预防性双乳切除术和切除卵巢是个人的决定, and should be based on many life factors. You must balance where you are in your childbearing years, what your future choices may be, 以及你是否更愿意遵循严格的筛查计划，而不是做出这样一个改变人生的选择.”

If you are facing this decision, you are not alone. Caring specialists can ensure you have all the facts, and, if surgery is ultimately your choice, 指导您进行适当的乳房手术重建，帮助您在治疗后恢复身体形象. If you are interested in discussing ovary removal surgery (oophorectomy), your doctor can refer you to a specialist in gynecological oncology.