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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00588263
Recruitment Status : Withdrawn (Data from MSK-IMPACT is sufficient for relevant analyses going forward)
First Posted : January 8, 2008
Last Update Posted : February 16, 2018
Information provided by (Responsible Party):
Memorial Sloan Kettering Cancer Center

Brief Summary:
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 or disease
Extrahepatic Bile Duct Cancer Gallbladder Cancer Gastric Cancer Lung Cancer Melanoma Non-Hodgkin's Lymphoma Uterine Cancer CORPUS UTERI,ENDOMETRIUM LUNG OVARY

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.

Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individual With Cancer
Study Start Date : July 2000
Estimated Primary Completion Date : July 2018
Estimated Study Completion Date : July 2018

Primary Outcome Measures :
  1. determine the prevalence of recurring BRCA1 and BRCA2 mutations [ Time Frame: 5 years ]

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.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00588263

United States, New York
Memorial Sloan Kettering Cancer Center
New York, New York, United States, 10065
Sponsors and Collaborators
Memorial Sloan Kettering Cancer Center
Principal Investigator: Kenneth Offit, M.D. Memorial Sloan Kettering Cancer Center

Additional Information:
Responsible Party: Memorial Sloan Kettering Cancer Center Identifier: NCT00588263     History of Changes
Other Study ID Numbers: 00-087
First Posted: January 8, 2008    Key Record Dates
Last Update Posted: February 16, 2018
Last Verified: August 2017

Keywords provided by Memorial Sloan Kettering Cancer Center:
Ashkenazi Jewish

Additional relevant MeSH terms:
Lymphoma, Non-Hodgkin
Stomach Neoplasms
Gallbladder Neoplasms
Bile Duct Neoplasms
Uterine Neoplasms
Neoplasms by Histologic Type
Lymphoproliferative Disorders
Lymphatic Diseases
Immunoproliferative Disorders
Immune System Diseases
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Digestive System Diseases
Gastrointestinal Diseases
Stomach Diseases
Biliary Tract Neoplasms
Biliary Tract Diseases
Gallbladder Diseases
Bile Duct Diseases
Neoplasms, Glandular and Epithelial
Genital Neoplasms, Female
Urogenital Neoplasms
Uterine Diseases
Genital Diseases, Female