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Sponsored by: |
Memorial Sloan-Kettering Cancer Center |
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Information provided by: | Memorial Sloan-Kettering Cancer Center |
ClinicalTrials.gov Identifier: | NCT00588263 |
The intent of the proposed study is to describe the prevalence of the most common recurring mutations in BRCA1 and BRCA2, blmAsh , and the A636P MSH2 mutation among Ashkenazi Jewish individuals with a variety of cancer diagnoses. If a substantial proportion of these samples contain such mutations, future patients presenting with these diseases may wish to undergo genetic counseling and, if appropriate, formal genetic testing. The benefit from such a process would pertain mainly to the families of these individuals.
Condition |
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Extrahepatic Bile Duct Cancer Gallbladder Cancer Gastric Cancer Lung Cancer Melanoma Non-Hodgkin's Lymphoma Uterine Cancer CORPUS UTERI,ENDOMETRIUM Lung Ovary |
Study Type: | Observational |
Study Design: | Cohort, Prospective |
Official Title: | Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individual With Cancer |
Blocks or extracted DNA from patients who have identified themselves as Jewish will be obtained and a determination will be made as to whether there is adequate material to proceed without exhausting the block or extracted DNA.
Four unstained sections (research specimens) or paraffin "curls" will be cut from each block. In those cases where a block containing normal resection margin or any other biopsy of normal tissue are available, tissue will be cut from this block so as to preserve tumor tissue for later investigators. It is not necessary for sections to be reviewed to confirm that tumor is present in the section, since any germline DNA is adequate for this analysis.
Estimated Enrollment: | 1905 |
Study Start Date: | July 2000 |
Estimated Study Completion Date: | July 2010 |
Estimated Primary Completion Date: | July 2010 (Final data collection date for primary outcome measure) |
Germline mutations in the genes BRCA1 and BRCA2 have been demonstrated in the majority of hereditary breast and ovarian cancer families. The increased risk to develop both breast and ovarian cancer associated with inheriting a BRCA1 or BRCA2 mutation has been well established. It has also been suggested that is an overrepresentation of other cancers such as colon, prostate and pancreatic cancer present in BRCA1 or BRCA2 families. Population specific mutations in BRCA1 and BRCA2 have been identified. In the Ashkenazi Jewish population, 3 specific mutations have been seen in 2% of the population. This study will anonymously screen archived tissue samples of Ashkenazi Jewish individuals diagnosed with cancer between 1993 and 1996 at MSKCC for the three founder mutations seen in the Ashkenazi Jewish population. Results will be stratified by tumor type and compared with the population frequency to determine whether individuals inheriting mutations in BRCA1 or BRCA2 may have an increased risk to develop other cancers, in addition to breast and ovarian cancer. This information will be useful in helping to identify individuals who may benefit from genetic counseling and possibly genetic testing who to date are not typically referred. It will also be useful in developing high-risk cancer screening strategies and determining appropriate options for prophylactic surgery.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Cases will be identified in one of two ways. Pathology records will be reviewed for the years 1985-present. All patients with diagnoses of pancreatic cancer, uterine cancer,lymphoma, melanoma, cancer of the gallbladder and bile duct, stomach cancer, brain cancer, ovarian cancer, colon cancer, head and neck cancer, lung cancer and breast cancer(including DCIS) from 1985 to the present at MSKCC will be identified.
Inclusion Criteria:
Contact: Kenneth Offit, M.D. | offitk@mskcc.org |
United States, New York | |
Memorial Sloan-Kettering Cancer Center | Recruiting |
New York, New York, United States, 10065 | |
Contact: Kenneth Offit, MD 212-434-5149 offitk@mskcc.org | |
Principal Investigator: Kenneth Offit, M.D. |
Principal Investigator: | Kenneth Offit, M.D. | Memorial Sloan-Kettering Cancer Center |
Responsible Party: | Memorial Sloan-Kettering Cancer Center ( Kenneth Offit, M.D. ) |
Study ID Numbers: | 00-087 |
Study First Received: | December 22, 2007 |
Last Updated: | December 9, 2008 |
ClinicalTrials.gov Identifier: | NCT00588263 |
Health Authority: | United States: Institutional Review Board |
Ashkenazi Jewish Cancer |
Gallbladder Diseases Thoracic Neoplasms Gastrointestinal Diseases Lymphoma, small cleaved-cell, diffuse Urogenital Neoplasms Melanoma Genital Diseases, Female Stomach Diseases Respiratory Tract Diseases Lung Neoplasms Nevus, Pigmented Biliary Tract Diseases Stomach Neoplasms Neoplasms, Germ Cell and Embryonal Neuroepithelioma |
Uterine Neoplasms Lymphoma Bile duct cancer, extrahepatic Digestive System Neoplasms Biliary Tract Neoplasms Immunoproliferative Disorders Genital Neoplasms, Female Uterine Diseases Stomach cancer Gall bladder cancer Neuroendocrine Tumors Lymphatic Diseases Neuroectodermal Tumors Digestive System Diseases Bile Duct Diseases |
Respiratory Tract Neoplasms Neoplasms Neoplasms by Histologic Type Neoplasms by Site |
Immune System Diseases Neoplasms, Nerve Tissue Nevi and Melanomas |