Breast Cancer Genetics

Breast Cancer Genetics

Some breast cancers occur as a result of inheriting genes that contain certain mutations. Hereditary breast cancer accounts for only 5 - 10 percent of all breast cancer diagnoses. A family may have one of these inherited genetic conditions or gene mutations that increase cancer risk:

  • BRCA1 or BRCA2. Mutations of these genes are related to breast and ovarian cancers
  • 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

Clues to an inherited cancer risk:

  • 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 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

Clinical Genetics Service

Our Clinical Genetics Service team includes board-certified genetic counselors that provide appropriate cancer and genetic risk assessment, testing, and a comprehensive understanding of what this information means for you and your family’s health. Our clinical genetics services include:

  • Genetic counseling to explain about the biology and genetics of cancer
  • Constructing a genetic pedigree (family tree) to look for patterns that may show an increased risk for cancer
  • Facilitate genetic testing
  • Explain the results of your genetic testing and discuss your options for prevention, surveillance and screening going forward

To request an appointment for genetic consultation, call 1-877-ASK-RPCI (1-877-275-7724).