Thyra M. Humphreys Center for Breast Health

Genetic Testing and Counseling

How to Schedule a Mammogram

Call us at: (570) 522-4200

Hours of Operation:
Monday - Friday
7 am - 5:30pm

Saturday appointments are available.

In the past few years, scientists have discovered two genes, known as the BRCA1 and BRCA2 genes (BR=breast, CA=cancer), that place women who carry these genes at extremely high risk for developing breast and ovarian cancer and, to a much lesser degree, pancreatic cancer.

Genetic testing for these genes was falsely publicized as the “test” for breast cancer. However, in reality, genetic testing for BRCA1 and BRCA2 only indicates that an altered (mutated or changed) cell exists, putting the carrier at a very high risk for cancer development.  The test is only appropriate for a small number of women and men and not the general public. It is estimated that these mutated genes cause only about 7 to 10 percent of breast cancers.

Testing for Hereditary Breast Cancer

A blood test can determine whether you are a BRCA1 or BRCA2 gene carrier. The ideal person to test is the person who has had breast cancer. The need to have a hereditary risk assessment must first be evaluated by a trained professional medical team. 

If your evaluation determines you are a candidate, counselors will discuss the advantages, disadvantages, and limitations of testing with you. At this time, you will be given an opportunity to decide if you wish to further pursue testing. Testing consists simply of having several tablespoons (30 ccs) of blood drawn from your arm and sent to a laboratory for analysis.

Who Is A Candidate For Genetic Testing?

The criteria for being tested for the BRCA1 or BRCA2 gene is based on your family history or personal degree of risk.

Testing is now performed for:

  • Persons with breast and/or ovarian cancer who has two or more first-* or second-degree* blood relatives (on one side of family, maternal or paternal) with either breast or ovarian cancer.
  • Persons with breast and/or ovarian cancer who has one first- or second-degree* blood relative younger than 45 (some authorities say 50 years of age or pre-menopausal) with breast cancer and/or ovarian cancer at any age.
  • Persons with breast and/or ovarian cancer developed before age 45 (some authorities say 50 years of age or pre-menopausal).
  • Persons with breast and/or ovarian cancer that is bilateral (both sides) or has multiple primary sites of cancer.
  • Males who develop breast cancer.
  • Blood relative (first- or second-degree relative*) who is documented as being a BRCA1 or BRCA2 gene carrier.

*Definition of First- and Second-Degree Relatives:

  • First-Degree: mother, father, sister, brother, daughter, son
  • Second-Degree: aunt, uncle, grandmother, grandfather, granddaughter, grandson, niece, nephew, half-brother, half-sister

Genetic Testing Exclusions

  • Persons under 18 years of age
  • Cognitively impaired person, unable to give informed consent
  • Psychologically impaired according to professional evaluation