Is Breast Cancer a Genetic Disease?

Yes, some breast cancers occur as a result of inheriting genes that contain certain mutations. But, hereditary breast cancer accounts for only 5 to 10% of all breast cancer diagnoses. Among these diagnoses, a family may have one of these inherited gene mutations or genetic conditions that increase their cancer risk:

  • BRCA1 or BRCA2. Mutations of these genes are related to an increased risk for breast and ovarian cancer
  • Li-Fraumeni Syndrome is caused by mutations in the TP53 gene
  • Cowden Syndrome caused by mutations in the PTEN gene
  • ATM, CHEK2, PALB2. Mutations in these genes are associated with a moderately increased risk for breast cancer

Should I Have Genetic Screening?

You should consider talking to a genetic counselor if your family history includes one or more of the following:

  • A diagnosis of triple-negative breast cancer (cancer that is negative for the estrogen receptor, progesterone receptor and HER2) before age 60
  • Multiple people in the family with the same cancer or related cancers, such as breast and ovarian; or colon and uterine
  • Two or more relatives (on the same side of the family) with the same cancer type, such as breast cancer or colorectal cancer, especially if they were diagnosed at younger ages
  • A cancer diagnosis at an early age (younger than 50)
  • More than one primary cancer in an individual (this means two or more separate cancers; rather than one that has spread to other locations)
  • Occurrence of a rare cancer, such as ovarian cancer or male breast cancer
  • Occurrence of a cancer in a person not exposed to a known risk factor, such as lung cancer in a nonsmoker
  • A known cancer gene mutation in the family

Worried about your breast cancer risk?

Roswell Park has been helping women who are at high risk for breast cancer understand and control their risk since 1995, with the longest-running breast cancer risk assessment and prevention program in our region. When it comes to taking charge of your breast health, you need a team of specialists — from certified genetics counselors to the most experienced diagnostic experts and pathologists who are focused solely on breast cancer. That is what Roswell offers. We also offer supportive and educational resources through our Women’s Resource Center to make sure all your questions are answered. And if something suspicious is found, you are already where you need to be for personalized medicine options not available elsewhere in our region. Complete our online Risk Assessment form as a first step toward understanding your personal risk level.

Online Risk Assessment Form

Genetic Testing for Breast Cancer at Roswell Park

Our board-certified genetic counselors can help determine whether you should undergo genetic screening, arrange for testing, and explain what the results mean for you and your family. Our Genetics team provides:

  • Genetic counseling to help you understand the biology and genetics of cancer
  • Construction of your genetic pedigree (family tree) to look for patterns that may show an increased risk for cancer
  • Orders for genetic testing
  • Explanation of your test results. We will discuss your options for reducing your risk, surveillance and screening going forward

To request an appointment for genetic consultation, call 1-800-ROSWELL (1-800-767-9355).