TEXAS CANCER GENETICS CONSORTIUM

德克萨斯州癌症遗传学联盟

• 批准号: 7282322
• 负责人: LOUISE C STRONG
• 金额: $ 14.12万
• 依托单位: UNIVERSITY OF TX MD ANDERSON CAN CTR
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-09-01 至 2007-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7282322
• 关键词: breast neoplasms; cancer risk; clinical research; colon neoplasms; cooperative study; ethnic group; genetic susceptibility; human data; human subject; human therapy evaluation; molecular genetics; neoplasm /cancer chemotherapy; neoplasm /cancer education; neoplasm /cancer genetics; neoplasm /cancer therapy; psychological aspect of cancer

DESCRIPTION: (Applicant's Description) We propose a Texas Cancer Genetics Consortium (TCGC) in response to the Cancer Genetics Network (CGN) RFA CA-97-004. This TCGC would bring to the CGN extensive expertise in basic and clinical cancer genetics, human and molecular genetics, management of confidential human cancer genetics data, community outreach in human genetics, professional and public education, and psychosocial studies of the impact of cancer genetic counseling and testing. The TCGC will include existing cancer high risk clinical populations, Ashkenazi Jewish populations, registries of familial breast, colon, MEN2, NF1 and other genetic susceptibility syndromes, many followed in studies for decades, patients at high cancer risk participating in screening and early detection studies or chemoprevention trials, and a large database of cancer patients from which to identify high risk family members for potential recruitment to the CGN. The Texas population is diverse in ethnic makeup, and the TCGC includes investigators with proven track records in assessing needs of the Hispanic and African American communities in health care, in providing health education to those communities and their healthcare providers, and in recruiting their participation in familial cancer registries and clinical and research studies. Funding of this application would provide the opportunity for our TCGC to strengthen our within consortium interactions, to contribute our research experience and expertise to the CGN design and implementation, and to utilize our experience and expertise in recruitment of high risk patients to CGN protocols. The long term goal is to contribute to the identification of cancer susceptibility genes, their mechanisms of action, frequency, penetrance, and genetic or environmental risk modifiers, to integrate this information into optimal patient management, and to assess needs and provide education to address the ethical and psychosocial concerns surrounding human cancer genetics.

描述：（申请人的描述）我们提出了德克萨斯癌遗传学 财团（TCGC）响应癌症遗传网络（CGN）RFA CA-97-004。 该TCGC将带给CGN基本方面的广泛专业知识 以及临床癌症遗传学，人和分子遗传学，管理 机密人类癌症遗传学数据，人类社区宣传 遗传学，专业和公共教育以及关于 癌症遗传咨询和测试的影响。 TCGC将包括 现有的癌症高风险临床人群，Ashkenazi犹太人 种群，家族乳房的注册，结肠，Men2，NF1和其他 遗传易感性综合征，许多在研究中进行了数十年的研究， 高癌风险的患者参与筛查和早期检测 研究或化学预防试验以及大量的癌症患者数据库 从中确定高风险家庭成员的潜在招聘 CGN。 德克萨斯州人口的种族化妆品多样化，TCGC 包括在评估需求时具有验证记录记录的调查员 西班牙裔和非洲裔美国社区在医疗保健方面提供 对这些社区及其医疗保健提供者的健康教育以及 招募他们参与家族性癌症注册和临床 和研究。 该应用程序的资金将提供 我们的TCGC有机会加强我们的财团互动， 为CGN设计贡献我们的研究经验和专业知识 实施，并利用我们的经验和专业知识 高风险患者进行CGN方案。 长期目标是贡献 为了鉴定癌症敏感性基因，其机制 动作，频率，外观以及遗传或环境风险修饰符， 将这些信息集成到最佳患者管理中，并评估 需要并提供教育，以解决道德和社会心理问题 围绕人类癌症遗传学。

项目成果

Increased oxidative metabolism in the Li-Fraumeni syndrome.

• DOI: 10.1056/nejmoa1214091
• 发表时间: 2013-03-14
• 期刊: The New England journal of medicine
• 作者: Wang PY;Ma W;Park JY;Celi FS;Arena R;Choi JW;Ali QA;Tripodi DJ;Zhuang J;Lago CU;Strong LC;Talagala SL;Balaban RS;Kang JG;Hwang PM
• 通讯作者: Hwang PM

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

使用变性高效液相色谱检测腺瘤性结肠息肉病 (APC) 基因的序列变异。

• DOI: 10.1089/109065701753617408
• 发表时间: 2001
• 期刊: Genetic testing.
• 作者: Wu,G;Wu,W;Hegde,M;Fawkner,M;Chong,B;Love,D;Su,LK;Lynch,P;Snow,K;Richards,CS
• 通讯作者: Richards,CS

Re: On the use of familial aggregation in population-based case probands for calculating penetrance.

回复：关于在基于人群的先证者中使用家族聚集来计算外显率。

• DOI: 10.1093/jnci/95.1.74
• 发表时间: 2003
• 期刊: Journal of the National Cancer Institute
• 作者: Amos,ChristopherI

Limb girdle muscular dystrophy: use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort.

肢带型肌营养不良症：使用 dHPLC 和直接测序检测新西兰队列中的肌聚糖基因突变。

• DOI: 10.1111/j.2004.00193.x
• 发表时间: 2004
• 期刊: Clinical genetics
• 影响因子: 3.5
• 作者: Love,DR

Mammography behavior after receiving a negative BRCA1 mutation test result in the Ashkenazim: a community-based study.

阿什肯纳兹人 (Ashkenazim) 收到阴性 BRCA1 突变测试结果后的乳房 X 光检查行为：一项基于社区的研究。

• DOI: 10.1097/00125817-200011000-00001
• 发表时间: 2000
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics
• 作者: Plon,SE;Peterson,LE;Friedman,LC;Richards,CS
• 通讯作者: Richards,CS