When Angelina Jolie underwent a preventative double mastectomy earlier this year, this issue of cancer risk and genetics made front-page headlines. Jolie, who announced the operation in a New York Times op-ed, tested positive for the BRCA1 gene mutation and learned she had an 87 percent risk of developing breast cancer. Jolie’s announcement left many … Read more
Actress Angelina Jolie is no stranger to the headlines, but she stunned the world with her Op-Ed in The New York Times, in which she shared her very private decision to have a preventive double mastectomy after testing positive for the BRCA1 gene mutation. “I hope that other women can benefit from my experience,” wrote Jolie. … Read more
Win or lose, Miss America contestant Allyn Rose made news with her decision to undergo a double mastectomy. According to the Associated Press, Rose, who lost her mother to breast cancer, inherited a rare genetic mutation which might put her at greater risk for developing cancer. Her decision to have the preventive surgery has sparked … Read more
As we recognize World Cancer Day today, it’s important to remember that one-third of cancer deaths worldwide are tied to lifestyle and diet, making them largely preventable. Dr. Judy Garber, director of Dana-Farber’s Center for Cancer Genetics and Prevention, provides some perspective, and highlights some of the steps individuals can take to reduce their cancer … Read more
An ovarian cyst is not the same as ovarian cancer. Benign ovarian cysts are extremely common, while ovarian cancer is rare. They do share symptoms, such as abdominal bloating, pressure, pain, or swelling. A gynecologist can help you determine if you have a benign ovarian cyst and if you need treatment. Many cysts go away … Read more
Pancreatic cancer often eludes early detection because symptoms typically don’t surface until the disease is well established. This makes it important to respond appropriately to warning signs, even though some may be vague or caused by another health condition. What are the symptoms of pancreatic cancer? Most symptoms of pancreatic cancer are caused when tumors … Read more
A gene mutation is a change in the genetic instructions in a cell. Genes are the DNA-encoded instructions for building proteins, which are the machinery that does the work inside our cells and our bodies. Some mutations change the function of proteins in ways that increase the risk of cancer or drive its growth. Gene … Read more
A relatively small proportion of breast cancers are caused by alterations in inherited genes that sharply increase the lifetime risk of developing breast cancer. One of these genes has recently been receiving new attention: PALB2, a potent breast cancer susceptibility gene related to the better-known BRCA1 and BRCA2 genes. Someone who inherits a PALB2 mutation faces … Read more
Michael Tichnor still wonders what might have happened if his primary care physician did not ask him one last question during his annual physical two years ago: “Is there anything else you want to tell me?” Until that moment, Tichnor, then 66, had no plans to mention the pebble-sized bump he accidentally discovered on his … Read more
Widespread testing of pediatric tumors has confirmed a long-held suspicion: far more of them have hereditary roots than was once thought. Physicians and researchers now estimate that at least 10% of cancers in children and adolescents, and probably many more, are linked to hereditary genetic mutations that increase cancer risk. The findings have changed the … Read more
This article was written by Donna Vatnick, BS, clinical research coordinator in Dana-Farber Cancer Institute’s Center for Cancer Genetics and Prevention. Historically, cancer risk has been confined to the binary: male versus female. After the discovery of BRCA1 and BRCA2 in the mid-90s, testing of these genes was most often recommended to women. The substantially … Read more
It was a decade that began with the electrifying results of a clinical trial for a revolutionary new cancer therapy and ended with a Nobel Prize in Medicine for very different cancer-related research. In between those dramatic bookends, the 2010s were packed with progress, with discoveries leading to the FDA’s 2017 approval of the first … Read more
Breast cancer survivor Jennifer Perry is at high risk of additional cancers during her lifetime because she carries an inherited mutation for Li-Fraumeni syndrome (LFS). But experts at the new Li-Fraumeni Syndrome and TP53+ Center at Dana-Farber Cancer Institute can help her manage that risk. While there is no treatment for LFS — a familial … Read more
Kerry Evers was always concerned that, due to a family history of the disease, cancer could be in her future. Her grandmother, father, uncle, and several of her cousins had been treated for different cancers throughout the course of her life. But Evers’ clearest indication of her chances of developing cancer resulted from learning her … Read more
If you carry BRCA1 or BRCA2 gene mutations, you may be at an increased risk of developing certain types of cancers — but it’s important to understand that cancer genetics are complex and other factors influence risk as well. Depending on certain factors like family history, it may be advisable to seek proper genetic counseling … Read more
Cascade testing is an efficient way of tracking inherited cancer predisposition mutations in families. It can save lives and improve health and overall quality of life.
Recently, at-home genetic tests that claim to determine a person’s potential risk for health conditions, such as cancer, have become available. However, the ability of at-home genetic tests to provide information about your cancer risk is very limited.
家用基因检测（at-home genetic testing），亦被称为直接面向消费者销售的基因检测（direct-to-consumer genetic testing）；近年来，它已成为人们了解先祖和家族传承的流行选择。最近，家用基因检测制造商声称其产品添加了判定用户健康的潜在风险的功能，例如：检测癌症、心脏病和阿尔兹海默症。 我们采访了丹娜—法伯癌症研究所的遗传学顾问——Sarah Cochrane老师（Sarah Cochrane, MS, LGC），她就家用基因检测的优势和缺陷等问题进行了全面解读。 什么是家用基因检测？它怎样检测癌症风险？ 家用基因检测产品帮助人们省去了从医务人员处做基因检测的步骤。销售家用基因检测产品的制造商们往往会给消费者邮寄一份唾液测试套装。在过去，人们用这种检测来了解自己的祖先，但是，现在人们对家用基因检测产品测试乳腺癌和卵巢癌风险甚感兴趣。 然而，家用基因检测产品在提供有关您患癌风险方面的信息实在有限。目前，这种检测能够鉴别一个人是否具有阿什肯纳兹犹太人（Ashkenazi Jewish，犹太民族三个常见分支之一）所携带的BRCA1和BRCA2基因突变。因此，在检测是否具有BRCA1和BRCA2基因突变倾向方面，这些家用基因检测产品只对具有阿什肯纳兹犹太人血统的人群有意义，因为与其它民族的后代相比，该民族的后代更容易有BRCA1和BRCA2基因突变的倾向。甚至在阿什肯纳兹犹太人的患者群里，额外的基因检测（家用基因检测产品以外的）也会大有裨益，因为有些阿什肯纳兹犹太人还携带这两种基因之一的其它变异，或者在不同基因里也有变异，但是家用基因检测产品无法测试出后者。 人们希冀从这些检测中了解到什么？它们能给出令人满意的答案吗？ 购买家用基因检测产品的消费者们往往希望了解到他们的健康风险，以便更为积极主动地采取预防措施，降低潜在风险。然而，家用基因检测产品无法为消费者提供有关癌症风险的总结性答案。如果您希望了解个人患癌的风险以及降低风险的方法，请您向一位专业的医疗保健从业者咨询，如：向一位遗传学顾问咨询，一起讨论有关综合癌症基因检测的问题。 人们对家用基因检测产品有问题和顾虑吗？ 人们对家用基因检测最大的问题和顾虑是，其检测结果会误导人们对癌症风险的认知，无论是给他们带来错误的希望或者不对的保障。很多人或许相信，一个隐形的检测结果就表明他们没有患癌风险，但这不一定就是对的。 遗传学顾问会推荐家用基因检测产品吗？ 如今，医界没有对家用基因检测产品作为健康水平或患癌风险测试进行背书。在未来，当技术得到进一步提高时，它或许可以让检测更具总结性和综合性，但是当下，它们只适用于追溯祖先和娱乐消遣，而不能作为癌症风险的测试。倘若您想要进行测试以帮助自己做出临床或癌症风险方面的决策，请向主治医生或遗传学顾问咨询有关临床基因测试（clinical genetic testing）的事宜。 如果一个人收到了一份令人担忧的家用基因检测结果，他（她）该怎么办？ 有些消费者或许收到了家用基因检测呈现的偏高癌症风险结果，那么他（她）应该向遗传学顾问咨询，再做一次确认性的试验，并且讨论癌症风险。住在波士顿的人们可以向丹娜—法伯癌症遗传学和预防中心（Dana-Faber’s Center for Cancer Genetics and Prevention）进行咨询。您也可以从美国国家遗传顾问协会（National Society of Genetic Counselors）网站上的 “寻找一位遗传学顾问（Find a Genetic Counselor）” 检索工具上查找美国其它地区的顾问。 点击此处了解丹娜—法伯癌症研究所基因检测的更多信息。 转载须知 阁下若有媒体联络需求，敬请致电617-632-4090，请阁下指明与媒体团队洽谈；或请发邮件至media@dfci.harvard.edu。阁下如欲转载本文，请发邮件至kun_ma@dfci.harvard.edu，未经授权禁止转载，感谢合作。
丹娜—法伯开发的一种新的在线评估工具，可以帮助人们快速识别自己是否应该接受林奇综合症（Lynch Syndrome）基因检测。林奇综合症是一种遗传性疾病，可大大增加结直肠癌、子宫内膜癌、卵巢癌、胃癌和其他癌症的终生风险。 在美国有将近一百万人（相当于每279个人中就有1个人）体内携带一个基因突变，而这个基因是可能导致林奇综合症的五种基因之一。这些所谓的“错配修复” （mismatch repair）基因的突变削弱了细胞修复其脱氧核糖核酸（DNA）中断层的能力，这些受损的细胞将更容易发生异常生长和癌变。这五种基因分别是MLH1，MSH2，MSH6，PMS2和EPCAM。 这个由丹娜—法伯研究人员和医生开发，并在《临床肿瘤学》期刊（Journal of Clinical Oncology）上发表的全新在线模型叫做PREMM5。它使人们能够迅速地评估自己携带与林奇综合症相关的这些基因的可能性。 该报告的资深作者是医学博士、公共卫生专家、丹娜—法伯癌症遗传与预防中心（Center for Cancer Genetics and Prevention）研究主任Sapna Syngal （Sapna Syngal, MD, MPH）。 “大多数林奇综合症基因突变的携带者都不知情，因为这种疾病的基因检测率和知识普及率远低于其他癌症易感基因，比如与乳腺癌和卵巢癌相关的BRCA1和BRCA2基因”她解释说。 PREMM5列出了有关性别、年龄、个人癌症史和关于某些癌症的家族病史的10个问题。回答这些问题只需要不到2分钟的时间，该模型就可以根据问题的答案计算出这个人的生殖系（父母遗传的生殖细胞）中携带任何五个林奇综合症基因突变的概率。研究人员建议PREMM5风险得分在2.5％或更高的人群进行遗传咨询和检测，以确定他们是否携带林奇综合症基因突变。 林奇综合症患者可能有80％的患结直肠癌（colorectal cancer）的终身风险，其中女性患子宫内膜癌（endometrial (uterine) cancer）的终生风险为40％到60％。 此外，林奇综合症还与胰腺、小肠、胆管、泌尿道、大脑、皮肤油脂腺的癌症发病率有关。 Syngal主任说，由于PREMM5工具是免费的并且使用方便，它可以帮助扩大林奇综合症检测的范围。 “基因检测的真正威力在于它可以阻止癌症的发展” ，她解释说。 “我对于被诊断患有林奇综合症的病人，更早和更频繁的检查、监测以及预防性手术可以显著降低患癌症的可能性。结肠镜检查（colonoscopy）和切除癌前病变可以防止超过60％的结直肠癌死亡率。预防性子宫切除术（prophylactic hysterectomy），并且切除卵巢和输卵管，是防止林奇综合症的女性患者发展子宫内膜癌和卵巢癌的有效策略。 PREMM5的开发是通过分析来自18,734名接受过林奇突变种系基因检测的患者的数据，其中包括许多自己没有癌症但是有亲属患有癌症的患者。测试表格提供了基因测试时的年龄、性别、个人和家庭癌症历史（包括确诊年龄）等个人信息，Syngal博士的团队同时对基因种系测试结果进行分析。通过计算这两组数据的关联，研究人员研发出一种计算方法来预测这五种基因之一发生遗传突变的可能性。然后，丹娜—法伯通过机构样本招募了1,058名结直肠癌患者对该模型进行了验证。PREMM5证明了它可以有效地区分林奇综合症基因的携带者和非携带者。 您可以在丹娜—法伯的网站上找到PREMM5 模型，请访问 http://premm.dfci.harvard.edu/.点击此处了解更多关于丹娜—法伯基因检测和预防的信息。 转载须知 阁下若有媒体联络需求，敬请致电617-632-4090，请阁下指明与媒体团队洽谈；或请发邮件至media@dfci.harvard.edu。阁下如欲转载本文，请发邮件至kun_ma@dfci.harvard.edu，未经授权禁止转载，感谢合作。
如果您被诊断为携带1号或2号乳腺癌易感基因突变（breast cancer susceptibility gene ，简称BRCA1或BRCA2 gene mutations），那么您在患某些特定类型的癌症方面或许会有更高的风险。但请谨记，癌症遗传学（cancer genetics）是一个复杂的领域，而且其它因素也会影响到一个人患癌的风险。取决于一些特定的因素（如：家族史），您的医生或许会建议您作遗传咨询（genetics counseling），这不仅可以帮助您了解自己患病的风险，还会让您采取预防癌症的措施。 我们采访了丹娜—癌症研究所癌症遗传学及预防中心的（Center for Cancer Genetics and Prevention）的Huma Q. Rana博士（Huma Q. Rana, MD），一起来了解一下1号或2号乳腺癌易感基因突变（下称BRCA1 和 BRCA2 基因突变）和风险以及遗传咨询服务。 什么是1号和2号乳腺癌易感基因突变？它们与癌症风险相关的作用机制是什么？ 在抑制肿瘤方面，BRCA1和BRCA2基因是通过生产修复DNA损伤（DNA damage）的蛋白质以及让细胞稳定生长来作用的。基因突变既可以由遗传而来，也可以偶然出现，我们把后者归化到体细胞突变（somatic mutation）这个类别里。无论是BRCA1基因还是BRCA2基因，当其中任何一种基因产生突变时，它的首要功能就有了改变（抑或是被中断），如此就会它导致无法修复DNA损伤或者出现其它基因变化（other alterations），从而让一个人患癌的风险增加。 携带BRCA1和BRCA2基因突变是否就意味着我会患癌？ 答案：不会，但是这两种基因突变会增加一个人患癌的风险。BRCA突变可以让一个人患乳腺癌（breast cancer）的风险增高8到10倍；在卵巢癌（ovarian cancer）方面，它让一个人患癌的风险上升至20倍；而在黑色素瘤（melanoma）方面，它致使人患癌的风险会增高两倍 。同样值得注意的是，有些携带BRCA基因突变的人群一生都没有患上癌症，这种情况也同样适用于他们的家族成员。 BRCA突变会让我有患哪些癌症的风险？ BRCA1和BRCA2基因突变可让一个人的一生都有患若干种类型癌症的风险。对于女性而言，这包括：乳腺癌（breast cancer） 、卵巢癌（ovarian cancer）、输卵管癌（fallopian tube cancer）以及腹膜癌（peritoneal cancer，暨腹部、子宫、膀胱和直肠的保护层）。在这些癌症里，携带BRCA基因突变的女性们最常见的癌症是乳腺癌和卵巢癌。 BRCA1和BRCA2突变最初是从一种名为遗传性乳腺及卵巢癌的症状（hereditary breast and ovarian cancer）中被发现的。总体上看，如果女性携带遗传性的BRCA1或BRCA2基因，那么她们在患与这类症状相关的癌症风险则最高。 从丹娜—法伯癌症研究所癌症遗传学与预防中心（Dana-Farber Cancer Institute’s Center for Cancer Genetics and Prevention）了解更多有关癌症基因的信息。 … Read more