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breast/ovarian cancer genotyping

Indications: - breast cancer or ovarian cancer - diagnosed before age 45 years - diagnosed before age 50 years if 1 relative with breast cancer, pancreatic cancer or prostate cancer (Gleason score > 6) [3] - triple-negative breast cancer diagnosed < 60 years of age - 2 primary breast cancers, 1st < 50 years - diagnosed at any age if 1 relative with epithelioid ovarian cancer - Ashkenazi Jewish ancestry - breast cancer in a man - ovarian cancer at any age [3] - no breast cancer ovarian cancer diagnosis - family history of BRCA1/BRCA2 mutation - 2 1st degree relatives with breast cancer, 1 diagnosed < 50 years - > 3 family members with breast cancer, pancreatic cancer or aggressive prostate cancer - combination of both breast cancer & ovarian cancer in 1st or 2nd degree relatives - 1st degree relative with bilateral breast cancer - combination of > 1 1st or 2nd degree relatives with ovarian cancer at any age - 1st or 2nd degree relative with both breast cancer & ovarian cancer at any age - breast cancer in a male relative - Ashkenazi Jewish ancestry with 1st degree relative, or 2 2nd degree relatives on the same side of the family, with breast cancer or ovarian cancer [3] - screening for breast cancer in women with a family history of breast cancer [2] - 2 1st degree relatives with breast cancer, 1 diagnosed > 50 years of age - 3 or - ovarian cancer of epithelioid origin - screening for ovarian cancer in women with a family history of ovarian cancer [2] - family history of BRCA gene mutation Specimen: 1) tumor tissue 2) whole blood (ACD or EDTA) 3) paraffin-embedded tissue 4) store body fluid at 4 degrees C 5) store tissue at -20 degrees C or below Notes: - associated genetic aberrations: - BRCA1 - BRCA2 - her2/neu proto-oncogene (erb-B2) - c-myb proto-oncogene - c-myc proto-oncogene - H-ras proto-oncogene - K-ras proto-oncogene - N-ras proto-oncogene - wnt1 (int1) proto-oncogene - p53 gene - retinoblastoma [Rb] gene (Rb1) - gene for cathepsin D - gene for metastasis inhibition factor nm23

Related

breast cancer breast cancer type 1 susceptibility protein (BRCA1) breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1) c-myb proto-oncogene c-myc proto-oncogene cathepsin-D (CTSD, CPSD) H-ras proto-oncogene her2/neu proto-oncogene (erb-B2) K-ras proto-oncogene N-ras proto-oncogene nucleoside diphosphate kinase-A, (NDP kinase A, tumor metastatic process-associated protein, metastasis inhibition factor nm23, nm23-H1, NME1, nm23/H1 nucleoside diphosphate kinase, granzyme A-activated DNase, GAAD) p53 gene retinoblastoma [Rb] gene (Rb1) wnt1 proto-oncogene or int1 proto-oncogene

Specific

BRCA1/BRCA2 genotyping

General

genotyping (allele testing)

References

  1. Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995
  2. U.S. Preventive Services Task Force Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: U.S. Preventive Services Task Force Recommendation Statement. DRAFT. Summary of Recommendations and Evidence. available for comment from April 2 until April 29, 2013 http://www.uspreventiveservicestaskforce.org/draftrec.htm - Draft Evidence Report Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer. http://www.uspreventiveservicestaskforce.org/draftrep2.htm
  3. Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015, 2018.
  4. Albain KS, Barlow WE, Shak S et al Prognostic and predictive value of the 21-gene recurrence score assay in postmenopausal women with node-positive, oestrogen- receptor-positive breast cancer on chemotherapy: a retrospective analysis of a randomised trial. Lancet Oncol. 2010 Jan;11(1):55-65 PMID: 20005174
  5. ARUP Consult: Hereditary Breast and Ovarian Cancer https://arupconsult.com/ati/hereditary-breast-and-ovarian-cancer