Breast Cancer Genetic Types

Breast Cancer Genetic Types

Thanks to advancements in genetic research and testing, more information is coming to light about the ways in which abnormalities and mutations in certain genes, either through heredity or individual mutations, can affect the development and onset of diseases like breast cancer. To date, the most common mutations known to increase the risk of developing breast cancer in women occur in the BRCA1 and BRCA2 genes.
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What is BRCA1 and BRCA2?

All women carry the BRCA1 and BRCA2 genes, which produce proteins that help to repair damaged DNA within a cell. A mutation or malfunction in either gene interferes with its ability to regulate proper cell function, which can in turn lead to diseases like breast and ovarian cancer in some women. Mutations in BRCA1 and BRCA2 can be inherited from either parent, and they account for roughly 20% – 25% of hereditary breast cancer cases, and approximately 5% – 10% of all breast cancer diagnoses, according to the National Cancer Institute.

Although certain mutations in genes like BRCA1 and BRCA2 are known to increase the risk of breast, ovarian, and other cancers, hereditary and genetic related breast cancers only account for 5% – 10% of all diagnoses.

Additional Gene Mutations and Breast Cancer

While BRCA1 and BRCA2 are the most common and, therefore, better understood and researched genes with mutations known to increase breast cancer risks, there are other (though rare) gene mutations known to also heighten the risk of breast cancer in some women:

RINT1 – This gene helps to regulate proper cell division, and mutations have been linked to several forms of cancer including:

  • breast
  • ovaries
  • uterus lining
  • skin
  • stomach
  • small intestine
  • colon
  • liver
  • gall bladder ducts
  • rectum
  • upper urinary tract
  • brain
  • skin

NBN – This gene is one of a group of three genes (the other two are MRE11A and RAD50) known as the MRN complex, which is primarily responsible for repairing cell damage in DNA. In addition to a childhood disorder known as Nijmegen breakage syndrome, abnormalities in these genes are linked to several forms of cancer including in the breasts.

p53 (TP53) – Responsible for synthesizing proteins that help to restrict tumor growth, mutations in this gene can lead to sarcomas (soft tissue tumors) in children, as well as a heightened risk of breast cancer and leukemia.

Mutations in the following genes, which also help with DNA repair and tumor suppression, have also been linked to breast cancer:

  • ATM
  • MRE11A
  • RAD50
  • PALB2
  • CDH1
  • PTEN
  • CHEK2

Contact a Breast Cancer Specialist Today

For compassionate, professional diagnosis and treatment for breast cancer, do not hesitate to contact Dr. Sadia Khan, a fellowship-trained breast surgeon at Hoag Breast Care Center in Newport Beach. Please call 949.390.9381 to schedule a comprehensive consultation today!

Next, read about Lymph Nodes.