Cancer Prevention and Care Resources for Marginalized Patients and Advocates

Cancer does not affect everyone in the same way. A combination of factors, including race, ethnicity, sexual orientation, or socioeconomic status can make some patients face a greater cancer burden and poorer outcomes in cancer care and treatment. These inequities are called cancer disparities. The causes “are complex and reflect social and economic disparities and … Read more

When Inherited Condition Leads to Two Cancers, Young Survivor Finds Hope at Prevention Center

As one of three family members with the same first and last name, John E. Duggan found individuality through initials while growing up — becoming universally known as “Jed.” Having survived both stage III colon cancer and thyroid cancer before age 30, he is refusing to let another familial tie get him down. Duggan has MUTYH-associated polyposis (or MAP), … Read more

Cancer Conversations Podcast – Episode #13: The Latest in Colon Cancer Prevention

As with many cancers, screening is a crucial step in preventing colorectal cancer. In fact, colorectal cancer is one of the most treatable forms of cancer if it is found early. “There are many different ways we can prevent colorectal cancer, ranging from medical tests to dietary and lifestyle behaviors, to taking certain medications,” says … Read more

Cancer Conversations Podcast – Episode #6: Cervical Cancer Research, Treatment and Prevention

Although cervical cancer incidence and death rates have decreased thanks to regular screenings, thousands of women in the U.S. are still affected by the disease every year. In this Cancer Conversations podcast episode, Ursula Matulonis, MD, medical director of the Gynecologic Oncology Program in the Susan F. Smith Center for Women’s Cancers at Dana-Farber, joins … Read more

Five Things You Need to Know About Colorectal Cancer Prevention [Infographic]

Updated April 13, 2015 While one of the most common cancers in both men and women, colorectal cancer remains a very preventable disease, says Jeffrey Meyerhardt, MD, MPH, clinical director of Dana-Farber’s Center for Gastrointestinal Oncology. “Most of these cancers develop over a period of years,” he says. “While not preventable in everyone, the earlier … Read more

Forty Years After Introduction, Breast Cancer Prevention Drug Still Effective

Nearly 40 years after its introduction, tamoxifen continues to prove its value as a breast cancer prevention drug. The most recent evidence comes from the International Breast Cancer Prevention Study 1 (IBIS-1), which for 20 years has been tracking breast cancer occurrence and survival rates in more than 7,000 women who had a higher than average … Read more

The Latest in Cervical Cancer Treatment, Research and Prevention

Although cervical cancer is relatively rare in the United States, approximately 11,000-12,000 women in the U.S. are diagnosed with the disease each year. Globally, that number grows to more than 500,000 diagnoses each year, making it the fourth most common women’s cancer worldwide. As January marks Cervical Cancer Awareness Month, the Susan F. Smith Center … Read more

World Cancer Day: Tips for prevention

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

什么是CHEK2?

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