Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individuals Who Have Cancer

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2016 by Memorial Sloan Kettering Cancer Center
Information provided by (Responsible Party):
Memorial Sloan Kettering Cancer Center Identifier:
First received: December 22, 2007
Last updated: February 11, 2016
Last verified: February 2016
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.

Extrahepatic Bile Duct Cancer
Gallbladder Cancer
Gastric Cancer
Lung Cancer
Non-Hodgkin's Lymphoma
Uterine Cancer

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individual With Cancer

Resource links provided by NLM:

Further study details as provided by Memorial Sloan Kettering Cancer Center:

Primary Outcome Measures:
  • determine the prevalence of recurring BRCA1 and BRCA2 mutations [ Time Frame: 5 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

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 2017
Estimated Primary Completion Date: July 2017 (Final data collection date for primary outcome measure)
Detailed Description:
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
Study Population
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:

  • Diagnosis of cancer made at MSKCC or collaborating institutions, AND
  • Tissue block of tumor or normal margin or extracted DNA available for study and sufficient material present to allow study without exhausting block or DNA,
  • Individual self-identified as Jewish on intake.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00588263

Contact: Kenneth Offit, M.D. 646-888-4067

United States, New York
Memorial Sloan Kettering Cancer Center Recruiting
New York, New York, United States, 10065
Contact: Kenneth Offit, MD    646-888-4067      
Principal Investigator: Kenneth Offit, M.D.         
Sponsors and Collaborators
Memorial Sloan Kettering Cancer Center
Principal Investigator: Kenneth Offit, M.D. Memorial Sloan Kettering Cancer Center
  More Information

Additional Information:
Responsible Party: Memorial Sloan Kettering Cancer Center Identifier: NCT00588263     History of Changes
Other Study ID Numbers: 00-087 
Study First Received: December 22, 2007
Last Updated: February 11, 2016
Health Authority: United States: Institutional Review Board

Keywords provided by Memorial Sloan Kettering Cancer Center:
Ashkenazi Jewish

Additional relevant MeSH terms:
Bile Duct Neoplasms
Lymphoma, Non-Hodgkin
Uterine Neoplasms
Bile Duct Diseases
Biliary Tract Diseases
Biliary Tract Neoplasms
Digestive System Diseases
Digestive System Neoplasms
Genital Diseases, Female
Genital Neoplasms, Female
Immune System Diseases
Immunoproliferative Disorders
Lymphatic Diseases
Lymphoproliferative Disorders
Neoplasms by Histologic Type
Neoplasms by Site
Urogenital Neoplasms
Uterine Diseases processed this record on May 26, 2016