Hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, and melanoma. Mutations in the BRCA1 or BRCA2 genes have been linked to this syndrome. Individuals with a mutation in either gene have a lifetime risk for the following cancers:
- 40%-80% for breast cancer
- 11%-55% for ovarian cancer
- 1%-10% for male breast cancer
- Up to 39% for prostate cancer
- 1%-7% for pancreatic cancer
BRCA1 and BRCA2 are tumor suppressor genes that control cell growth and cell death. When a person has one altered or mutated copy of either gene, their risk for the various cancers listed above increases.
Guidelines established by the American Society of Human Genetics state that a mutation in BRCA1 or BRCA2 should be suspected in individuals with a personal or family history (1st, 2nd, or 3rd degree relative in either lineage) or any of the following characteristics:
- Breast cancer diagnosed at age 50 or younger
- Ovarian cancer
- Multiple primary breast cancers either in the same breast or opposite breast
- Both breast and ovarian cancer
- Male breast cancer
- Triple-negative (estrogen receptor negative, progesterone receptor negative, and HER2/neu [human epidermal growth factor receptor 2] negative) breast cancer
- Pancreatic cancer with breast or ovarian cancer in the same individual or on the same side of the family
- Ashkenazi Jewish ancestry
- Two or more relatives with breast cancer, one under age 50
- Three or more relatives with breast cancer at any age
- A previously identified BRCA1 or BRCA2 mutation in the family
Methodology: Sequencing of entire coding region
Purpose:Confirmation of clinical diagnosis
Test Requisition: Sequencing Requisition
BRCA1 CPT Code: 81214 full gene sequence Cost: $750.00
BRCA2 CPT Code: 81216 full gene sequence Cost: $750.00
Panel CPT Code: 81211 Cost: $1500.00
Panel Turn-around-time: 5-6 weeks
BRCA1 CPT Code: 81215 known familial mutations Cost: $396.00
BRCA2 CPT Code: 81217 known familial mutations Cost: $396.00
Turn-around-time: 4-5 weeks each test
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