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Breast Cancer: Genetic Testing for Inherited Mutations
Learn about genetic testing and the genes associated with hereditary breast cancer.

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Risk Management & Treatment > Cancer Treatment > By Cancer Type > Breast > Genetic Testing for Inherited Mutations

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Genetic Testing for People Diagnosed with Breast Cancer

People with breast cancer should ask about genetic testing

Up to 10% of people diagnosed with breast cancer have an that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an  linked to cancer. Experts recommend that people diagnosed with breast cancer who have any of the following should speak to an expert about genetic testing.

A person diagnosed with breast cancer, who has any of the following:

  • .
  • diagnosed with breast cancer more than once. 
  • breast cancer diagnosed at age 50 or younger.
  • male breast cancer or assigned male at birth.
  • advanced or breast cancer.
  • early breast cancer and at high risk for recurrence to learn if there would be benefit to treatment with a .
  • a close blood relative (first-, second- or third-degree) who tested positive for an in a gene linked to cancer risk.
  • a close blood relative diagnosed with male breast cancer. 
  • ancestry.
  • lobular carcinoma and a personal or family history of diffuse gastric cancer.


A person diagnosed with breast cancer at age 51 or older, who has any of the following:

  • a close relative with breast cancer at age 50 or younger.
  • a close relative with male breast, ovarian or pancreatic cancer.   
  • a close relative with cancer that is or high-risk or very high-risk group. 
  • three or more close relatives on the same side of the family with either breast or cancer (including the patient). 

Genes linked to breast cancer in women

Mutations in the following genes have been linked to increased risk for breast cancer in women and people assigned female at birth.

Breast Cancer in Women and People Assigned Female at Birth


Genes linked to male breast cancer

Mutations in the following genes have been linked to breast cancer in men and people assigned male at birth.

Breast Cancer in Men and People Assigned Male at Birth


Breast cancer subtypes associated with inherited gene mutations

Some inherited mutations have been linked to certain types of breast cancer. 

  • People with inherited  mutations are more likely to develop  than any other subtype of breast cancer. 

  • People with mutations are more likely to develop lobular carcinoma than ductal carcinoma. 

Last updated July 07, 2024