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Gene Reviews

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

Specimen Requirements

Shipping Information


1. Al-Sukhni, W., Rothenmund, H., Eppel Borgida, A., Zogopoulos, G., O'Shea, A.-M., Pollett, A., Gallinger, S. (2008) “Germline BRCA1 mutations predispose to pancreatic adenocarcinoma”. Hum. Genet. 124: 271-278.

2. Albertsen, H., Plaetke, R., Ballard, L., Fujimoto, E., Connolly, J., Lawrence, E., Rodriguez, P., Robertson, M., Bradley, P., Milner, B., Fuhrman, D., Marks, A., Sargent, R., Cartwright, P., Matsunami, N., White, R. (1994) “Genetic mapping of the BRCA1 region on chromosome 17q21”. Am. J. Hum. Genet. 54: 516-525.

3. Bar-Sade, R. B., Theodor, L., Gak, E., Kruglikova, A., Hirsch-Yechezkel, G., Modan, B., Kuperstein, G., Seligsohn, U., Rechavi, G., Friedman, E. (1997) “Could the 185delAG BRCA1 mutation be an ancient Jewish mutation?” Europ. J. Hum. Genet. 5: 413-416.

4. Castilla, L. H., Couch, F. J., Erdos, M. R., Hoskins, K. F., Calzone, K., Garber, J. E., Boyd, J., Lubin, M. B., Deshano, M. L., Brody, L. C., Collins, F. S., Weber, B. L. (1994)Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer”. Nature Genet. 8: 387-391.

5. Chen, J., Silver, D. P., Walpita, D., Cantor, S. B., Gazdar, A. F., Tomlinson, G., Couch, F. J., Weber, B. L., Ashley, T., Livingston, D. M., Scully, R. (1998) “Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells”. Molec. Cell 2: 317-328.

6. Friedman, L. S., Gayther, S. A., Kurosaki, T., Gordon, D., Noble, B., Casey, G., Ponder, B. A. J., Anton-Culver, H. (1997) "Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population". Am. J. Hum. Genet. 60: 313-319.

7. Miki, Y., Katagiri, T., Kasumi, F., Yoshimoto, T., Nakamura, Y. (1996) "Mutation analysis in the BRCA2 gene in primary breast cancers". Nature Genet. 13: 245-247.

8. ASHG; Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet. 1994;55:i–iv

9. Breast Cancer Linkage Consortium. (1999) Cancer risks in BRCA2 mutation carriers.J. Nat. Cancer Inst. 91: 1310-1316.





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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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