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"Mystery families" important ongoing study

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Nancy View Drop Down
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    Posted: Aug 05 2009 at 2:56pm
I just posted this on the FORCE board and received a response and wanted to bring this to everyone's attention. I have seen families with a large incidence of breast/ovarian cancer test negative for the BRCA mutations yet the cancer continues.

If you are in such a family please consider this study...

all the best,

Steve

here is what I posted and the response..

Wed Aug 05, 2009 10:17 am



           
Dear Guest,

I agree with everything written above especially about seeing a Certified Genetic Counselor.

Another suggestion-


Many women have TNBC but have tested negative for the BRCA mutations. There is an ongoing study being done by Dr. Mary-Claire King’s breast cancer research lab at the University of Washington in Seattle for “mystery families” with breast and ovarian cancer.


Dr. Mary-Claire King is the scientist who first identified and named the BRCA1 gene. She and her dedicated colleagues remain hard at work trying to solve the mystery of why many women who have tested negative for the BRCA mutations still have breast/ovarian cancer.

There is no charge to be in the study. I would encourage anyone who has a family with a lot of breast/ovarian cancer (4 or more individuals) and has had a negative mutation result on the BRCA1/2 gene sequencing and BART tests consider joining Dr. King’s study. There is a very knowledgeable Certified Genetic Counselor who works with Dr. King’s group. Her name is Jessica Mandell. The best thing is to have your genetic counselor or doctor fax Jessica your family tree and genetic test results so Dr. King can review your family for eligibility.
 
Here is the criteria-

"Breast and Ovarian Cancer in Families - Genetic Testing Research

Dr. Mary-Claire King, PhD, is conducting research on the genetics of breast and ovarian cancer in families, at the University of Washington in Seattle. Jessica Mandell, MS, CGC, is the primary study coordinator and genetic counselor. This study focuses on women with invasive breast cancer who have a significant breast and/or ovarian cancer family history but who have tested negative for known deleterious mutations in the BRCA1 and BRCA2 genes.

Dr. King’s research primarily focuses on linkage testing between relatives in high-risk families in search of new genes linked to breast and ovarian cancer. In some families, additional BRCA1 and BRCA2 analysis may be performed in search of cryptic/rare mutations or large deletions and rearrangements previously undetected. Basic BRCA1/2 sequence testing is not provided by this study for any participant.

Consultands with unclassified variants may also apply. In these families, Dr. King will try to confirm the effects of the variant. Mutations in the CHEK2 gene may also be analyzed in some families.

Eligibility

To be eligible, families must include at least four INDIVIDUAL cases of invasive breast or ovarian cancer, all on the same side of the family. DCIS/LCIS does not apply. Bilateral cancer only counts as one case. Any ethnicity and age at onset are accepted. Consultands must have had invasive breast cancer and negative Myriad sequence testing for BRCA1, BRCA2, the panel and BART analysis.

Criteria also include the willingness of the family as a whole to join the study. In order to perform linkage, we seek to genotype the four affected cases by direct blood sampling of each individual and sampling the first-degree relatives of affected individuals who are deceased. For all affected relatives, we also seek to obtain pathology reports and tumor blocks if available.

Referral
 
Genetic counselors and medical professionals may submit cases, preferably by fax. Before a family is submitted, it is advised that the initial consultant discuss the research with their relatives to confirm that the necessary individuals would be interested in participating. Referrals must include the pedigree of the consultand AND all pages of the Myriad genetic test report, including information on variants found by the testing. Please include the family's ancestry on the pedigree. Also note if there are any children of deceased relatives with cancer. All families will be reviewed with Dr. King, after which Jessica will get back to you with eligibility confirmation. The review process may take a few weeks.

Protocol

To participate in the study, it is advised that the consultand and all family members be directed to Jessica for genetic counseling/consenting. Consultands and family members can be enrolled by the referring genetic counselor or medical professional if they are local to that medical center, and as the medical center allows. If enrolling with Jessica directly, participants receive genetic counseling/consenting over the phone. No travel is required.

For all participants, Jessica will FEDEX a package containing paperwork and a blood kit to submit a blood sample to the lab. Papers include a consent form, a medical history questionnaire, a pathology release form for those with cancer, a cover sheet for the sample and, where appropriate, a consent to share test results with the referring GC/medical professional. FEDEX supplies also are included to send blood back to lab. There should be no cost to participants to enroll in the study. If there is an expense for the blood draw, we will reimburse participants.

Results and Privacy

Dr. King's lab is CLIA approved to provide genetic testing results. However, there is no guarantee that results may be found by this study or in what period of time. If clinical results are determined, participants will receive their personal results back. Far patients enrolled at a medical center, results will be returned to the referring GC/medical professional for disclosure. Regarding confidentiality, all personal information is protected, and we do not disclose any information to third parties without participants’ consent.

Contact

Please feel free to contact Jessica with any questions or concerns.

Jessica Mandell, MS, CGC

Certified Genetic Counselor and Research Coordinator

King Laboratory

jmandell@slc.edu

540-389-5329 - fax"
Nancy
DD Lori dx TNBC June 13,2007
Lumpectomy due to incorrect dx of a cyst
mastectomy July 6 2007
chemo ACT all 3 every 3 weeks 6 tx Aug-Nov
28 rads ended Jan 2008
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