Studies in large populations have shown that people who have a near relative with a form of lymphoma or chronic lymphocytic leukemia (CLL) have an increased risk of developing these diseases themselves. Both lymphoma and CLL are relatively uncommon: the average person’s lifetime risk of developing CLL, for example, is 0.57%, according to the American … Read more
Leukemia, which usually occurs because of a mutation — or DNA change — is the most common childhood cancer. Some genetic syndromes can create a predisposition to leukemia, as well as other blood disorders.
As scientists map ever more of the epigenetic disruptions that occur in cancer, the implications for cancer therapy are becoming increasingly evident.
Despite the fact that cancer survivorship is on the rise, it may seem that cancer is everywhere — and that there’s nothing we can do about it. But are we really powerless to stop certain cancers from coming our way? Or, at least, to lessen the chances of developing those cancers? With the help of … Read more
Gene, genetics, genome, and genomics all are derived from a Greek word – gen – meaning birth or origin. Almost every aspect of health and disease is influenced in some way by the inherited information in cells, written in the chemical code of DNA and packaged in distinct units known as genes. The complete set … Read more
Advances in genetic research may improve the prevention, diagnosis, and treatment of women’s cancers. “More genes are being found and fewer families are having to wonder if there is something genetic that may increase their risk, or future generations’ risk, of developing cancer,” says Judy Garber, MD, MPH, director of the Center for Cancer Genetics … Read more
Amy Kindstedt hates cancer, but the 9-year-old is very thankful for one thing: Because genetic testing on her baby brother Hunter revealed he had the same genetic mutation she did, his cancer was caught much earlier – possibly sparing him the same level of intense treatment she endured. The mapping of the human genome has … Read more
Knowledge of genetics and women’s cancers has come a long way in the 20 years since the BRCA1/2 genes were discovered. Scientists are able to identify more genes that can increase risk, leading to better prevention and improved treatment. “One of the most exciting developments is the knowledge that patients with hereditary risk have tumors … Read more
By Christine Hensel Triantos On a cold winter day in 2002, Sharon Goyette stepped into Dana-Farber’s Center for Cancer Genetics and Prevention. She was a 21-year-old college student, and this was the last place she wanted to be. But her mother had insisted. After developing colon cancer, Goyette’s mother had been diagnosed with Lynch syndrome … Read more
Twenty years ago, scientists announced the discovery of BRCA1, which arguably has become the best-known cancer susceptibility gene in the world. When inherited in a mutated form, the gene sharply increases a woman’s chances of developing breast or ovarian cancer, often at an early age. The discovery has changed the way women with a family … Read more
Although most cancers are sporadic or occur by chance, a small percentage are due to inherited genetic (or germline) mutations, which can often be identified through genetic testing. These mutations are different from somatic mutations, which are not inherited, but occur during one’s lifetime. Profile, a research project launched by Dana-Farber and Brigham and Women’s Hospital, … Read more
Breast cancer is the most common cancer among American women, but only 5-10 percent of breast cancer cases are hereditary. Of those cases, roughly 20-25 percent are linked to mutations in the BRCA1 and BRCA2 genes (BRCA stands for BReast CAncer susceptibility). View the infographic below for more on the genetics of breast cancer.
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
The Encyclopedia Britannica may have published its last print edition, but a group of Dana-Farber scientists and their colleagues recently produced one of the first encyclopedias to help researchers determine which subtypes of cancer are likely to respond to current drugs. The freely available, online encyclopedia lists hundreds of cancer subtypes – each with a … Read more
Lynch syndrome is an inherited condition that increases an individual’s risk for certain types of cancer. It’s caused by a mutation in any of five specific genes: MLH1, MSH2, MSH6, PMS2, and EPCAM. People born with a mutation in one or more of these genes have a significantly increased risk of developing colorectal or uterine cancer and a somewhat … Read more
For a while, Stephanie Dobson attributed her gastrointestinal issues to her pregnancy. It was her second, a girl born in May 2023, a baby sister to her son. But when the symptoms persisted for the 34-year-old mother, she raised the issue with her primary care provider. She was encouraged to see a gastroenterologist. On an … Read more
发布日期：2019年8月27日 更新时间：2023年6月2日 医学审校：Huma Q. Rana博士（Huma Q. Rana, MD, MPH） 关键摘要： CHEK2是一种肿瘤抑制基因，保护细胞免于癌变。 遗传基因突变的人群罹患某种癌症的风险有所加剧，更为频繁的筛查或可使其受益。 CHEK2是 “检测点激酶2（checkpoint kinase2）” 基因的缩写。该基因为血细胞生产CHK2蛋白质提供指令，当细胞里的DNA损毁或DNA链断裂时，CHK2被激活。 CHK2蛋白质有什么作用？ CHK2和其它基因响应DNA损坏的机制如下：通过终止细胞分裂并判断细胞之于人体健康应修复损伤还是自毁。这一过程确保了具有基因损伤或突变的细胞在分裂时，不会将 “有害” 的DNA传给下一代。这种基因突变可被视为迈向癌变的第一步。CHEK2使得细胞免于癌变，也被视为一种肿瘤抑制基因（tumor-suppressor gene）。 当CHEK2自身产生突变时（即构成CHEK2的DNA出错时），它的功能受损。在CHEK2基因不能正常作用时，细胞就失去了一个生长的关键限制，并且离无节制分裂的癌症更进一步。 哪些癌症携带CHEK2基因突变？ 美国国立卫生研究院（NIH）指出，很多癌症都有CHEK2基因突变，包括：乳腺癌、肾癌、甲状腺癌等。有些脑肿瘤和骨肉瘤（osteosarcoma，一种骨癌）也有CHEK2基因突变。 携带CHEK2突变的人群有哪些风险？ 携带CHEK2基因突变的人群罹患某些癌症的风险更高。携带CHEK2基因突变的女性罹患乳腺癌的风险是与未携带CHEK2基因突变的女性的两倍以上。因风险加剧，携带CHEK2基因突变的女性需要更为密切的乳房筛查。 结直肠癌、前列腺癌风险加剧是否与CHEK2基因突变相关尚不明确，但是携带CHEK2基因突变的人群需要与家庭医生和遗传学专家咨询，是否需要针对结直肠癌和前列腺癌展开筛查。 大部分携带CHEK2基因突变的个体都有该基因的一个正常基因的副本，以及一个突变的副本。因为子女从父母两人处分别集成一个基因的副本，因此携带CHEK2基因突变的人群遗传给子女的概率为50%。此外，因为CHEK2突变通常是通过基因传播的，所以知道自己携带CHEK2基因突变的人应该告诉近亲，以便他们根据自己的医院接受筛查检测。 近期有哪些CHEK2相关的科研信息？ CHEK2会发生许多不同的突变，包括该基因DNA的拼写错误。根据突变发生的位置，它们会从多方面影响基因：有些会关闭基因或阻止基因活性；或使得具有缺陷的CHEK2产生。 最近，由丹娜—法伯科学家Huma Rana博士和Brittany Bychkovsky博士带领的一项研究，对数千位患者的数据进行分析，以判断有些基因突变是否与某些特定类型的癌症相关。他们发现，无论患者携带哪种CHEK2基因突变，它都与乳腺癌、肾癌、甲状腺癌相关，与结直肠癌并不相关。此前，学界曾认为：在CHEK2基因突变患者中，结直肠癌更为常见。遗传学专家可根据以上研究，帮助先天携带CHEK2基因突变的患者更好地了解患癌的风险。 点击此处，从丹娜—法伯癌症研究所癌症遗传学和预防学诊所了解更多有关癌症风险的信息。 医学审校人简介： 2007年，Rana博士毕业于新泽西医学和牙科大学的罗伯特·伍德·约翰逊医学院（Robert Wood Johnson Medical School at the University of Medicine and Dentistry of New Jersey）。随后，她在西奈山医学院（Mount Sinai School of Medicine）完成了内科学住院医师培训，以及遗传学和基因科学专项培训。2020年，Rana博士在哈佛大学陈曾熙公共卫生学院获得公共卫生硕士学位。自2012年起，Rana博士在丹娜—法伯癌症研究所任职。 转载须知 … 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
The same way you can predict whether a family is away, getting ready for work, or cooking dinner by observing which lights are on in the house, scientists can gaze into a cell and predict its state based on which genes are on or off. Normal liver cells, for instance, have a predictable and recognizable … Read more
A frequent component of treatment for breast cancer is surgery to remove the cancer. While mastectomy was more common in decades past, experts at Dana-Farber want you to know that science and treatment have advanced. Improved screening, early diagnosis, and advances in medicine are enabling many more patients to have the option of breast-conserving surgery, … Read more