当我的妻子被诊断出患有breast cancer在2018年，BRCA成为我们家庭中常用的术语。有时被称为“乳腺癌基因”，BRCA1和BRCA2是两个可以携带遗传突变的单独但相关的基因。尽管它们最常见（并且错误地）仅与女性乳腺癌和卵巢癌相关，但现实是这些突变增加了乳腺癌，卵巢，胰腺和前列腺癌以及黑色素瘤的风险。
In other words, theBRCA mutationcan affect anyone.
我妻子的肿瘤学家建议genetic testing看看她是否有BRCA突变，该突变有50％的机会从父母传给孩子。有两个成年女儿和一个成年儿子，我们对测试结果的焦虑很高。当我们发现我的妻子不仅没有突变，而且可以通过乳房切除术，放射线和抗癌药物治疗她的癌症时，我们叹了口气。我们认为我们在癌症方面很清楚。
但是，大约在同一时间，我购买了“直接到消费者”的基因测试，以了解有关我的祖先的更多信息。当我的遗传报告到达时，它证实我是98.6％的阿什肯纳兹犹太人 - 毫不奇怪！- 并展示了我可以在网站上与之联系的近1,000个亲戚。学习和与之互动会有什么乐趣new relatives来自世界各地，尤其是因为我一直认为自己是一个小家庭。
Then I clicked on the “health” section and received the shock of a lifetime: a harmful variant had been detected in my BRCA2 gene. I thought “Oh, [expletive deleted], what will this mean for my family and me?” Considering that none of my family members had any of the cancers that are linked to the BRCA mutation, this news was even more surprising. I’ve since learned that only 2% of the people with the BRCA mutation learn of it secondarily, like I did (meaning, I wasn’t looking for it when I underwentgenetic testing）。我跟进了我们的遗传学家，他通过血液检查证实我确实携带了BRCA2突变。当我的妻子成为癌症幸存者时，我成为了一个“预期” - 我以前从未听说过这个词。
After the shock wore off, my response to the news was to learn everything I could about BRCA2. While roughly 1 in 400 people have a BRCA mutation, that number increases tenfold, to1 in 40,for the Ashkenazi Jewish population. For women, BRCA2 mutations increase the average终身风险of breast cancer from 12.5% to roughly 50%, while the ovarian cancer risk jumps from 1.3% to as high as 20%. I wondered what this would mean for my daughters if they tested positive, and I felt a tremendous sense of responsibility to help them deal with whatever challenges they may face from inheriting my genetic mutation.
BRCA2 mutations also carry serious health implications for men, including a30 to 60% lifetime riskfor prostate cancer, compared to 12% for the general population. These men are also more likely to develop an aggressive form of prostate cancer at a younger age. The lifetime risk of male breast cancer — yes,that’s a thing- 高达7％，而非BRCA人群为0.1％。对于男性和女性，胰腺癌从1.5％上升到高达10％的几率，研究将突变与包括眼睛在内的恶性黑色素瘤的风险增加有关。
显然，BRCA mutation没有父母想传递给孩子的事情 - 但这正是我们家庭中发生的事情。经过一年多的讨论和焦虑之后，我和我的妻子决定告诉我们的三个孩子我的处境，并在他们决定自己的行动方案时为他们服务。每个人都选择进行测试，事实证明每个都有BRCA2突变。50/50的赔率如此之多。
As unfortunate as my story sounds, inheriting a BRCA mutation is neither a death sentence nor a保证的癌症。为我的家人工作在一起的过程our “new normal,” we have become healthier and closer. At age 57, I’ve scaled back my work and devoted more attention to my health, my family’s health, and the world of genetic mutations and BRCA. I’m working with a team of professionals to exercise and shed excess pounds, cut out certain foods, and otherwise live a healthier lifestyle. I hope cancer doesn’t find me, but if it does, I plan to be in “fighting shape” and detect it early, so I’ll be much more likely to beat it.
我们29岁的女儿通过专注于健康并选择做出回应freeze her eggs, thereby expanding her options to have children and making it possible to screen for BRCA mutations before implanting fertilized eggs. The experience of accompanying my daughter to the fertility clinic and helping her with hormone injections has been both awkward and meaningful. When pangs of guilt start creeping in, honest conversation — often with a few “Dad jokes” mixed in — has helped us stay focused on collectively addressing the challenges we face. As for our son and younger daughter, they are taking the news in stride and planning for a life that just happens to include the mutation.
For our daughters, this means frequent乳房X线照片，骨盆检查，超声检查，MRI和其他诊断程序，何时是正确的（是否有“正确”的时间？），双乳腺切除术和子宫切除术。对于我们的儿子和我而言，这意味着内窥镜超声检查，腹部MRI，结肠镜检查，PSA检查，前列腺检查，乳房检查和皮肤检查。我们将花更多的时间与泌尿科医生，胃肠病医生，皮肤科医生和遗传学家比我们想象的。这样，我们的家人正在尽我们所能，为我们和子孙后代击败癌症并击败BRCA。希望我们永远不必与肿瘤科医生保持名字。
I didn’t go looking forBRCA, but since it found me, I’m doing all I can to help others, especially men — who tend to be less familiar with, or less willing to deal with, issues surrounding the mutation. I’ve enrolled in several BRCA-related studies and am devoting time and money to nonprofits focused on hereditary cancer, including面对赋予癌症的风险（Force），一个促进遗传性癌症研究并支持BRCA和其他遗传基因突变的组织。ios下载beplay作为一个有BRCA突变的男人，我不仅受到“ BRCA兄弟会”的欢迎，而且还受到了许多支持小组（主要是女性）的支持团体，这些团体非常有帮助和鼓舞人心。ios下载beplay
父亲节不仅在周日举行，而且还恰好是男子健康周。如果您想知道遗传性癌症是否可能在您的家人中（甚至不在）中，现在可能是与遗传顾问谈论接受测试的合适时机。知识就是力量，它可能可以挽救您的生命或您所爱的人的生命。
狂热工作室/加里水域/科学库/盖蒂图像的标题图像
