Ignite Creation Date:
2024-05-05 @ 7:01 PM
Last Modification Date:
2024-10-26 @ 9:40 AM
Study NCT ID:
NCT00588263
Status:
WITHDRAWN
Last Update Posted:
2018-02-19
First Post:
2007-12-22
Brief Title:
Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individuals Who Have Cancer
Sponsor:
Memorial Sloan Kettering Cancer Center
Organization:
Memorial Sloan Kettering Cancer Center
Study Overview
Official Title:
Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individual With Cancer
Status:
WITHDRAWN
Status Verified Date:
2017-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Data from MSK-IMPACT is sufficient for relevant analyses going forward
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None