基本信息
浏览量:188
职业迁徙
个人简介
The major focus of Dr. Syngal's career has been the development of research, clinical and training programs focusing on the genetics, screening, and prevention of gastrointestinal malignancies.
Dr. Syngal has created research programs that study the effectiveness of novel technologies with the goal of providing patients and physicians with new tools for preventing cancer through clarification of personal risk, early detection, and the use of novel screening techniques. Her main research focus has been to evaluate the impact of new genetic discoveries as tools for cancer risk assessment and the study of genetic epidemiology of colorectal cancer. With the discovery of the mismatch repair genes, MSH2 and MLH1, she led one of the first groups to evaluate the prevalence of mutations in large clinical populations, demonstrating phenotypic differences between carriers of the two genes. Her group also reported a high prevalence of colorectal cancer in patients with germline mutations in the TP53 gene, leading to the inclusion of colonoscopy screening into the National Comprehensive Cancer Network guidelines for care of patients with the Li-Fraumeni syndrome. She has also made major contributions to the field of risk assessment for genetic syndromes through the development of a novel risk assessment web-based tool (the PREMM model) to predict the likelihood of carrying mutations in the MSH2, MLH1, and MSH6 genes.
In addition to her program’s primary research, Dr. Syngal has been the site-PI for multiple national consortiums. She runs a funded site for the National Cancer Institute Pancreatic Cancer Genetic Epidemiologic (PACGENE) consortium, where the mission is to identify susceptibility genes for pancreatic cancer in order to improve risk assessment and early detection. As part of the National Cancer Institute’s Early Detection Research Network (EDRN), her group has been evaluating novel biomarkers for early colon cancer and other gastrointestinal tumor detection for the past ten years. The program is also a site for the Cancer of the Pancreas Screening (CAPS) consortium, evaluating novel imaging and endoscopic approaches to screen for early pancreatic neoplasia in high risk families.
The Gastrointestinal Cancer Genetics and Prevention Program that she has built over her career has shown tremendous growth in recent years, with the addition of several new faculty members, as well as new trainees. The clinical program has grown steadily and annually, offering care to a wide variety of patients, including those with Lynch Syndrome, Familial Adenomatous Polyposis, Hamartomatous Polyposis, and hereditary pancreatic cancer. She plans continued growth in the scope of research in the next several years, with expansion of the cancer risk assessment models to include other cancer types beyond colorectal cancer, and inclusion of genetic test results of panels on multiple genes that will allow comprehensive risk assessment for all cancers based on personal and family history.
Dr. Syngal has created research programs that study the effectiveness of novel technologies with the goal of providing patients and physicians with new tools for preventing cancer through clarification of personal risk, early detection, and the use of novel screening techniques. Her main research focus has been to evaluate the impact of new genetic discoveries as tools for cancer risk assessment and the study of genetic epidemiology of colorectal cancer. With the discovery of the mismatch repair genes, MSH2 and MLH1, she led one of the first groups to evaluate the prevalence of mutations in large clinical populations, demonstrating phenotypic differences between carriers of the two genes. Her group also reported a high prevalence of colorectal cancer in patients with germline mutations in the TP53 gene, leading to the inclusion of colonoscopy screening into the National Comprehensive Cancer Network guidelines for care of patients with the Li-Fraumeni syndrome. She has also made major contributions to the field of risk assessment for genetic syndromes through the development of a novel risk assessment web-based tool (the PREMM model) to predict the likelihood of carrying mutations in the MSH2, MLH1, and MSH6 genes.
In addition to her program’s primary research, Dr. Syngal has been the site-PI for multiple national consortiums. She runs a funded site for the National Cancer Institute Pancreatic Cancer Genetic Epidemiologic (PACGENE) consortium, where the mission is to identify susceptibility genes for pancreatic cancer in order to improve risk assessment and early detection. As part of the National Cancer Institute’s Early Detection Research Network (EDRN), her group has been evaluating novel biomarkers for early colon cancer and other gastrointestinal tumor detection for the past ten years. The program is also a site for the Cancer of the Pancreas Screening (CAPS) consortium, evaluating novel imaging and endoscopic approaches to screen for early pancreatic neoplasia in high risk families.
The Gastrointestinal Cancer Genetics and Prevention Program that she has built over her career has shown tremendous growth in recent years, with the addition of several new faculty members, as well as new trainees. The clinical program has grown steadily and annually, offering care to a wide variety of patients, including those with Lynch Syndrome, Familial Adenomatous Polyposis, Hamartomatous Polyposis, and hereditary pancreatic cancer. She plans continued growth in the scope of research in the next several years, with expansion of the cancer risk assessment models to include other cancer types beyond colorectal cancer, and inclusion of genetic test results of panels on multiple genes that will allow comprehensive risk assessment for all cancers based on personal and family history.
研究兴趣
论文共 317 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
crossref(2023)
Alicia Latham,Ying L. Liu, Gillain Constantino,Matilde Borio, Cole Poulin, Sean Mccoy,Christina Dudzik,Jordan Heiman,Yelena Kemel,Chinedu Ukaegbu,Megha Ranganathan, Madison Parenteau,
Journal of Clinical Oncologyno. 16 (2023): 10516-10516
引用0浏览0引用
0
0
JOURNAL OF CLINICAL ONCOLOGYno. 16 (2023): 10523-10523
引用0浏览0引用
0
0
Nicolette J. Rodriguez, C. S. Furniss,Matthew B. Yurgelun,Chinedu Ukaegbu,Pamela E. Constantinou, Ileana Fortes, Alyson Caruso,Alison N. Schwartz,Jill E. Stopfer,Meghan Underhill-Blazey,Barbara Kenner,Scott H. Nelson,
GASTROENTEROLOGYno. 6 (2023): S45-S46
crossref(2023)
crossref(2023)
crossref(2023)
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn