New guidelines for hereditary breast cancer

Revised clinical guidelines for breast cancer were published May 10, 2022, with significant changes.

  • Routine molecular genetic testing for suspected hereditary breast cancer now includes three new genes, RAD51C, RAD51D, and BARD1. These genes are associated with a moderately increased risk of breast cancer. Women with a pathogenic or likely pathogenic variant in one of these genes has a 20-25 percent risk of developing breast cancer.
  • Genetic testing is recommended for all women with triple negative breast cancer, regardless of age at diagnosis. Previous guidelines recommended testing only for women diagnosed with triple negative breast cancer before 60 years of age.

The full panel of genes recommended for routine assessment of hereditary breast cancer now includes nine genes in total:   BRCA1, BRCA2 PALB2, ATM, CHEK2, TP53, RAD51C, RAD51D, and BARD1.


RAD51C and RAD51D are also associated with an increased risk for ovarian cancer and were already included the in the GeneMate® test. BARD1 has been added in accordance with the new guidelines.


Minor adjustments have been made to the GeneMate® targeted services in consideration of the updated clinical guidelines. The following targeted services relate to hereditary breast cancer:


GeneMate® Breast and GeneMate® Prostate are now GeneMate® BRCA+

GeneMate® BRCA+ includes three genes associated with a significantly increased risk of breast and ovarian cancers (BRCA1, BRCA2, and PALB2). This test is also suitable for men who would like to test their risk for hereditary prostate cancer (BRCA2).


GeneMate® Breast+ is now GeneMate® Breast & Ovarian

GeneMate® Breast & Ovarian covers a total of 14 genes including all ten genes previously included in GeneMate® Breast+, plus four additional genes (RAD51C, RAD51D, BARD1, and BRIP1). All genes included are associated with an increased risk of breast and/or ovarian cancer.


GeneMate® Breast, Gyn, & Colon

Five additional genes have been added to GeneMate® Breast, Gyn, & Colon (BARD1, PTEN, NF1, STK11, and CDH1), covering a total of 21 genes. All genes included are associated with an increased risk of hereditary breast and/or ovarian cancer, or uterine and colorectal cancer (Lynch syndrome).