- Both genetic and environmental factors can lead to the development of different types of cancer.
- Genetic counselors and testing can help identify the potential cancer risks your genes may hold.
- 这可以帮助塑造您和您的家人如何筛选和治疗癌症的未来。
- 基因检测可以帮助减轻一些风险，并在发生这种情况时识别一些癌症。
When she was a senior in high school, Maggie Miller’s aunt was diagnosed with breast cancer.
“这是一条非常艰难的道路，”米勒告诉了健康的线条，解释她的阿姨当时只有48岁。雷竞技app官网
“她有一个积极的双侧乳房切除术，在恶心管理的时代侵略性化疗，恶心的管理不是很好，辐射和重建，”米勒继续。“这真的很难。而且，我的意思是，我记得我的妈妈真的情绪化，真的很担心。她有五个女儿。“
At the time, there were very few answers regarding what the risks to the rest of her family may be. But today, Miller is part of a growing field of medical professionals who focus specifically on helping others identify those risk factors when breast cancer strikes someone they love: genetic counselors.
Miller is a认证遗传辅导员在阿拉斯加安克雷奇的普罗维登斯癌症中心工作。
根据这一点劳工统计局, she was one of only 3,000 working genetic counselors in the United States in 2018.
“As a genetic counselor, I kind of think of myself as an interpreter of genetics,” Miller explained. “It’s a really complicated field that involves a little bit of psychology, a little bit of genetics, a little bit of counseling, a little bit of basic science, and it just merges a lot of things.”
她的训练需要在几乎每个医学部门进行课程。“但真的，这是一种看着癌症的过程或有癌症的人，并试图建立它的遗传原因。”
她说，如果她能找到遗传原因，她说，它可以塑造一个家庭如何筛选和处理到未来，理想地减轻风险并在它发生时澄清癌症。
While Miller works with a variety of cancer genes, breast cancer is one of her personal passions and specialties.
According to Miller, 60 to 70 percent of breast cancers are environmental, “or what we call sporadic,” she said, noting that 5 to 10 percent of breast cancer diagnoses are hereditary.
“你会注意到这些数字中的差距，”米勒解释说。“还有一些患有基因所涉及的乳腺癌，但它不是单个基因，更复杂。这真的是我们试图在遗传测试中识别的是，好吧，我们可以找到具有高风险基因的人。“
然而，她指出并非每个人都有高风险基因，即使存在一些基因受累。并非所有癌症都是纯粹的环境。有时，这是两者的组合。
To explain the three different categories of breast cancer (sporadic, hereditary, and a combination of the two), Miller advises her patients to think of a seesaw.
“Most breast cancer is sporadic,” she said. “And if you picture a seesaw, when the seesaw hits all the way to the right hand side, that’s cancer.”
But it often takes a lifetime of little pebbles falling on the seesaw for that to happen, which is why the average age for breast cancer diagnosis is62 years of age. It’s an accumulation of “a lot of junk” over time, as Miller put it, eventually resulting in the development of breast cancer.
When a woman is diagnosed with breast cancer in her 30s or 40s, however, it’s usually an indication that something else is going on.
米勒解释说，这是她的砖与鹅卵石理论的地方。砖块将是那些导致跷跷板更快地提示的高风险基因，或者涉及一个家庭中多个成员的跷跷板划船。
但这些基因没有确保一个人会得到癌症。他们只是意味着一个人的风险更大。
“所以它需要其他鹅卵石尖头，”米勒解释说。“但他们经常提示年轻，而且它从一代人一代开始。
这一切都是风险的积累，其中高风险基因一次加入最多的重量，但可以随时通过外部因素添加鹅卵石。
After the 60 to 70 percent of breast cancers that are sporadic and the 5 to 10 percent that are hereditary, Miller says the remaining “30 percent or so” are what she calls “familial.” It’s also referred to multifactorial.
With multifactorial, there are genes involved, but not the big, high-risk bricks. Instead, it’s a bunch of little genetic pebbles combined with a bunch of environmental pebbles.
“所以在多因子的模型中,你会经常看到siblings getting the same cancers,” she said. This is because they share not only the same genes, but often the same environment.
That’s where genetic testing and counseling enters the picture, helping people to understand their risk and assess the choices available to them for mitigating those risks.
但虽然它在男性中较少，但是当一个人被诊断出患有乳腺癌时，“他的机会突变约20％，”米勒说。
She further explained that the risk of developing breast cancer for a man with a BRCA mutation is 7 percent, while the average woman with a BRCA mutation has a risk of 13 percent, which often comes down to hormones.
但是，7％的风险是嘲讽的，特别是当我们认为男人很少接受与女性相同的乳腺癌筛查时。这可能意味着他们的癌症需要更长时间才能诊断。
此外，携带BRCA突变的男性可以将这种突变视为他们的女儿。
“Men who carried mutations are also at risk for prostate cancer,” Miller added.
For these reasons, she is passionate about ensuring men know that if they have family members with the BRCA mutation, they could be impacted as well. Which means men with family histories should consider genetic testing, as well as self-breast exams and clinical breast exams.
基因检测科学迅速发展，新的基因链接被一直发现。
“There’s almost always something new for me to understand in terms of a new gene or a new gene mutation within a gene that we had previously missed,” Miller explained.
That’s one of the reasons The American Society of Breast Surgeons has发出的指导方针advising people who have undergone previous genetic testing to consider the benefits of being tested again.
除此之外，他们希望遗传测试可供有乳腺癌个人历史的人提供。该指南建议首先与受影响的家庭成员开始测试，但争论在测试最初受影响的患者时应对家庭成员提供测试。
So, why not just test everyone?
The answer, according to Miller, often comes down to logistics.
“并非所有的保险公司支付，”她解释道。
But the
Miller also pointed out that many “labs offer patient assistance for families that can’t afford that.”
Miller said the limited numbers of genetic counselors currently available also plays a big role in how many people can be tested and those who are available often have very full referral schedules.
此外，不是每个人都想知道他们的遗传筛查可能揭示什么。所以，他们完全选择了。
“Sixty to 70 percent of my referrals never make an appointment,” Miller said, explaining that there is a whole subset of our population that does not see this type of information as empowering.
虽然米勒说，她看到人口测试的潜在好处，但她认为“我们需要弄清楚很多管理问题以及我们在我们的全部蒸汽之前进行了大量的管理问题和支持问题。”
However, for those who fear what the results of genetic testing may reveal, Miller says she wants to make sure people know that even with the high risk genes, there are a lot of options available that may not involve some of the drastic measures people often fear.
While there are surgical and medical options to consider, there are also advanced screenings for those at greater risk that can help catch breast cancer sooner.
“即使在所有癌症综合征的最坏情况下，我也有很好的工具来提供人们，”米勒说。