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Research at Mass General
Learn more about genetic counseling at the Center for Cancer Risk Assessment
Research ongoing within the CCRA involves studies of molecular genetics and its impact on cancer predisposition, development of new and improved modalities for cancer screening and early detection, and clinical trials for new approaches to cancer prevention. This work is closely integrated with the clinical CCRA Cancer Genetics program.
The CCRA laboratory combines databases and specimen repositories derived from patients at high risk for genetic predisposition to cancer. Sophisticated high throughput techniques are used for mutation detection in germline specimens. CCRA studies were among the first to demonstrate the prevalence of BRCA1 and BRCA2 mutations in Jewish and non-Jewish women with early-onset breast cancer and the frequency of p16 gene mutations in patients who have a family history of malignant melanoma. The CCRA laboratory has an active research program aimed at identifying additional common genetic variations in the population that may be associated with an increased risk for developing breast cancer. The CCRA Clinical Cancer Genetics Program has specialized clinics that provide clinical information, genetic counseling, and, when appropriate, molecular diagnostic testing for patients and their relatives who are at risk for germline mutations in cancer predisposition genes. These include, but are not limited to, testing for mutations in BRCA1 and BRCA2, through the breast-ovarian cancer genetics clinic (Medical Director: Leif Ellisen, MD, PhD); the APC and mismatch repair genes through the gastrointestinal cancer genetics clinic (Daniel Chung, MD); the p16 gene through the familial melanoma and pigmented lesion clinic (Hensin Tsao, MD, PhD); the VHL gene through the familial renal cell cancer/Von Hippel Lindau Syndrome clinic (Othon Iliopoulos, MD); and the MEN1 and RET genes through the endocrine genetics clinic (Gil Daniels, MD, Giuseppe Barbesino, MD, and Doug Ross, MD). All of the specialized clinics are staffed by dedicated genetic counselors who provide information and counseling for patients, while participating in the research mission of the CCRA.
Mass General is leading the way in developing improved technologies for cancer screening and early detection. New this year is the integration of digital tomosynthesis, a revolutionary approach to improving the accuracy of breast cancer screening, into routine clinical practice. Mass General has also been at the forefront in the application of dedicated breast MRI for early detection, an approach which has been proven to find cancers earlier than standard screening in BRCA1/2 mutation carriers. Clinical research studies led by CCRA investigators are testing new and more advanced approaches to early detection of ovarian cancer, pancreatic cancer, colon cancer and other malignancies. Through participation in these studies, patients found to be at high risk of cancer have the opportunity to be as pro-active as possible in managing their risk.
Many new approaches are emerging for preventing cancers of the breast and other organs. Some of these approaches may be particularly relevant for patients who have an elevated risk of developing cancer due to inherited predisposition. Mass General recently completed and published a landmark study, led by Dr. Paul Goss, demonstrating the ability of the estrogen inhibitor Exemestane (Aromasin) to prevent breast cancer in post-menopausal women. The CCRA provides access to the full range of cancer prevention counseling and treatment services, as well as clinical trials of new and promising prevention approaches for many cancers including breast, ovary, and colon.
1 Kwak EL, Chung DC Hereditary colorectal cancer syndromes: an overview. Clin Colorectal Cancer. 02/21/2007; 6(5); 340-4.
2 Chung DC, Yoon SS, Lauwers GY, Patel D Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancer. N Engl J Med. 07/19/2007; 357(3); 283-91.
3 Choi MY, Lauwers GY, Hur C, Willett CG, Chung DC Microsatellite instability is frequently observed in rectal cancer and influenced by neoadjuvant chemoradiation. Int J Radiat Oncol Biol Phys. 08/06/2007; 68(5); 1584.
4 Manne SL, Chung DC, Weinberg DS, Vig HS, Catts Z, Cabral MK, Shannon K, Meropol NJ Knowledge and attitudes about microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer. Cancer Epidemiol Biomarkers Prev. 10/12/2007; 16(10); 2110-7.
5 Chung DC, Maher MM, Faquin WC Case records of the Massachusetts General Hospital. Case 37-2006. A 19-year-old woman with thyroid cancer and lower gastrointestinal bleeding. N Engl J Med. 11/30/2006; 355(22); 2349-57.
6 Herraiz M, Barbesino G, Faquin W, Chan-Smutko G, Patel D, Shannon KM, Daniels GH, Chung DC Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol. 03/19/2007; 5(3); 367-73.
7 Ryan PD, Haber DA, Shannon KM, Smith BL, Fan MJ Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 28-2003. A 51-year-old premenopausal woman with newly diagnosed breast cancer and a strong family history of breast cancer. N Engl J Med. 09/11/2003; 11(11); 1076-82.
8 Ryan PD, Haber DA, Shannon KM, Smith BL, Fan MJ Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 28-2003. A 51-year-old premenopausal woman with newly diagnosed breast cancer and a strong family history of breast cancer. N Engl J Med. 09/11/2003; 349(11); 1076-82.
9 Jo WS, Bandipalliam P, Shannon KM, Niendorf KB, Chan-Smutko G, Hur C, Syngal S, Chung DC Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol. 10/19/2005; 3(10); 1022-8.
10 Chung DC, Mino M, Shannon KM Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 34-2003. A 45-year-old woman with a family history of colonic polyps and cancer. N Engl J Med. 10/30/2003; 349(18); 1750-60.
11 Shannon KM, Muzikansky A, Chan-Smutko G, Niendorf KB, Ryan PD Uptake of BRCA1 rearrangement panel testing: in individuals previously tested for BRCA1/2 mutations. Genet Med. 12/18/2006; 8(12); 740-5.
12 Tsao H, Sober AJ, Niendorf KB, Zembowicz A Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-2004. A 48-year-old woman with multiple pigmented lesions and a personal and family history of melanoma. N Engl J Med. 02/26/2004; 350(9); 924-32.
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