gene responsible for breast cancer

 About 5% to 10% of breast cancer cases are thought to be hereditary, meaning that they result directly from gene changes (mutations) passed on from a parent.

BRCA1 and BRCA2: The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.

  • If you have inherited a mutated copy of either gene from a parent, you have a higher risk of breast cancer.
  • On average, a woman with a BRCA1 or BRCA2 gene mutation has up to a 7 in 10 chance of getting breast cancer by age 80. This risk is also affected by how many other family members have had breast cancer. (It goes up if more family members are affected.)  
  • Women with one of these mutations are more likely to be diagnosed with breast cancer at a younger age, as well as to have cancer in both breasts.
  • Women with one of these gene changes also have a higher risk of developing ovarian cancer and some other cancers. (Men who inherit one of these gene changes also have a higher risk of breast cancer, as well as prostate and some other cancers.)
  • In the United States, BRCA mutations are more common in Jewish people of Ashkenazi (Eastern Europe) origin than in other racial and ethnic groups, but anyone can have them.

Other genes: Other gene mutations can also lead to inherited breast cancers. These gene mutations are much less common, and most of them do not increase the risk of breast cancer as much as the BRCA genes.

  • ATM: The ATM gene normally helps repair damaged DNA (or helps kill the cell if the damaged can't be fixed). Inheriting 2 abnormal copies of this gene causes the disease ataxia-telangiectasia. Inheriting one abnormal copy of this gene has been linked to a high rate of breast cancer in some families.
  • TP53: The TP53 gene helps stop the growth of cells with damaged DNA. Inherited mutations of this gene cause Li-Fraumeni syndrome. People with this syndrome have an increased risk of breast cancer, as well as some other cancers such as leukemia, brain tumors, and sarcomas (cancers of bones or connective tissue). This mutation is a rare cause of breast cancer.
  • CHEK2: The CHEK2 gene is another gene that normally helps with DNA repair. A CHEK2 mutation increases breast cancer risk.
  • PTEN: The PTEN gene normally helps regulate cell growth. Inherited mutations in this gene can cause Cowden syndrome, a rare disorder that puts people at higher risk for both cancer and benign (non-cancer) tumors in the breasts, as well as growths in the digestive tract, thyroid, uterus, and ovaries.
  • CDH1: Inherited mutations in this gene cause hereditary diffuse gastric cancer, a syndrome in which people develop a rare type of stomach cancer. Women with mutations in this gene also have an increased risk of invasive lobular breast cancer.
  • STK11: Defects in this gene can lead to Peutz-Jeghers syndrome. People affected with this disorder have pigmented spots on their lips and in their mouths, polyps (abnormal growths) in the urinary and digestive tracts, and a higher risk of many types of cancer, including breast cancer.
  • PALB2: The PALB2 gene makes a protein that interacts with the protein made by the BRCA2 gene. Mutations in this gene can lead to a higher risk of breast cancer.

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