Breast Cancer

One in eight women will be diagnosed with breast cancer in her lifetime.

Proper testing will assist physicians in diagnosing and treating a current cancer, predicting recurrence, and determining hereditary status for their patients.

Propelling Research and Knowledge

The BRCA1 and BRCA2 Mutation Database provides information on BRCA1 and BRCA2 gene mutations and their impact on risk of developing breast cancer, ovarian cancer, and certain other cancers.

This database may be used by anyone at no cost.
To view the database, visit: http://arup.utah.edu/database/BRCA/

Beast Cancer Subtypes

It is important to know the subtype of breast cancer in women for guiding treatment and predicting survival.

About 5% to 10% of all breast cancers are thought to be hereditary. If hereditary breast cancer is suspected, BRCA1 and BRCA2 testing is recommended.

Diagnostic, Prognostic and Predictive Marker Testing

0093399 Circulating Tumor Cell Count
2003493 Cytokeratin 8,18 Low Molecular Weight (CAM 5.2) by Immunohistochemistry
0095155 DNA Cell Cycle Analysis—Ploidy and S-Phase
2003869 E-Cadherin by Immunohistochemistry
2007332 ERBB2 (HER2) (HercepTest) by Immunohistochemistry
0049178 ERBB2 (HER2/neu) (HercepTest) by Immunohistochemistry, Tissue with Reflex to FISH if 2+
0049174 ERBB2 (HER2/neu) (HercepTest) with Interpretation by Immunohistochemistry, Tissue
2008603 ERBB2 (HER2/neu) Gene Amplification by FISH, Tissue
0049210 Estrogen/Progesterone Receptor with Interpretation by Immunohistochemistry
2004516 Estrogen Receptor (ER) by Immunohistochemistry
2004672 HER2/neu Quantitative by ELISA
2003978 Keratin 903 (K903) High Molecular Weight by Immunohistochemistry
0049250 p53 with Interpretation by Immunohistochemistry
2010787 PAX8 by Immunohistochemistry
2004525 Progesterone Receptor (PR) by Immunohistochemistry

BRCA1 and BRCA2 cancer testing

2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication
2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing
2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes
2001961 Familial Mutation, Targeted Sequencing

Pharmacogenetic testing

0051232 Cytochrome P450 2D6 (CYP2D6) 14 Variants and Gene Duplication
0051104 Cytochrome P450 2C19 (CYP2C19) 9 Variants
2012740 Cytochrome P450 3A5 Genotyping, CYP3A5, 2 Variants
2013098 Cytochrome P450 Genotype Panel
2008767 Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant

Hereditary Cancer Testing

2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication
2011915 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Deletion/Duplication
2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing
2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes
2010757 Cancer Panel, Hereditary, Deletion/Duplication, 46 Genes
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes
2001961 Familial Mutation, Targeted Sequencing

Which patients should be tested for BRCA1 and BRCA2 mutations?

  • Breast cancer diagnosed at age 50 or younger
  • Ovarian cancer at any age
  • Multiple primary breast cancers either in the same breast or opposite breasts
  • Both breast and ovarian cancer
  • Triple-negative (hormone-receptor negative and HER2/neu? 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

Additional Resources

ARUP’s Breast Cancer Experts and Consultants are nationally and internationally recognized pathologists, subspecialty-qualified clinicians, and board-certified clinical scientists.

ARUP Consult® is a laboratory test selection support tool with more than 2,000 lab tests categorized into disease-related topics and algorithms. ARUP Consult—Breast Cancer