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BROCA
Research Genetic test
Help
offered by
King Laboratory
GTR Test Accession: Help GTR000521940.4
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYBREAST DISORDERS ... View more
Last updated in GTR: 2021-02-19
View version history
Last annual review date for the lab: 2023-12-14 LinkOut
At a Glance
Conditions (4): Help
Breast-ovarian cancer, familial, susceptibility to, 3; Breast cancer, early-onset; Breast cancer, familial male more...
Genes (7): Help
ATM (11q22.3); BARD1 (2q35); BRCA1 (17q21.31); BRCA2 (13q13.1); BRIP1 (17q23.2) more...
Study description: Help
Comprehensive genetic testing for families with multiple affected relatives with …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Genomic Analysis of Inherited Breast and Ovarian Cancer
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Comprehensive genetic testing for families with multiple affected relatives with breast and/or ovarian cancer who are negative for mutations in BRCA1/2. Our study includes complete screening of all known breast cancer genes, including BRCA1 and BRCA2 and approximately 40 other genes.|Eligibility: 1) Families must include at least four individual cases … View more
View citations (1)
  • Wickramanyake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM. Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14. Casadei S, Norquist BM, Walsh T, Stray SM, Mandell JB, Lee MK, Stamatoyannopoulos JA, King M-C. Contribution to familial breast cancer of inherited mutations in the BRCA2-interacting protein PALB2. Ca Rsrch 71(6):2222-9, 2011. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil A, Nord AA, Mandell JB, Swisher EM, King M-C. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PNAS 107:12629-33, 2010. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell JB, Lee MK, Ciernikova S, Foretova L, Soucek P, King M-C. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of brea
Study type: Help
Observational study
Study protocol: Help
jxxq8opr/criteria.doc
Offered by: Help
King Laboratory
Person responsible for the study: Help
Mary-Claire King, Principal Investigator
Study contact: Help
Mary-Claire King, Principal Investigator
Research contact policy: Help
fax or email pedigrees and genetic test reports of families to Jessica Mandell for review of eligibility
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Test Procedure: Help
All testing is CLIA certified. There is no time frame on research results. Results are returned to all participants who want them. Results are returned via phone and mail. Free clinical testing is available for adult relatives in mutation positive families. Mutation testing takes about 2 months for results.
Test Confirmation: Help
All testing is CLIA certified. There is no time frame on research results. Results are returned to all participants who want them. Results are returned via phone and mail. Free clinical testing is available for adult relatives in mutation positive families. Mutation testing takes about 2 months for results.
Additional Information

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