breast/ovarian cancer genotyping
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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
- tumor tissue
- whole blood (ACD or EDTA)
- paraffin-embedded tissue
- store body fluid at 4 degrees C
- 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
More general terms
More specific terms
Additional terms
- 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
References
- ↑ Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995
- ↑ 2.0 2.1 2.2 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 - ↑ 3.0 3.1 3.2 3.3 Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015, 2018.
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/20005174
- ↑ ARUP Consult: Hereditary Breast and Ovarian Cancer https://arupconsult.com/ati/hereditary-breast-and-ovarian-cancer