Breast Cancer

Familial relationship with breast cancer – 2022

breast cancer

Familial relationship with breast cancer

The risk of breast cancer is high in a person who has previously had breast cancer in a female family member.

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Nicole – How did your breast cancer affect your relationships with family and friends?


Hereditary risk factors for breast cancer

Up to 10% of breast cancer cases are hereditary. Like mutated BRCA1 and 2 genes that are passed down in the family.

BRCA1 and BRCA2 in Breast Cancer: The most common cause of hereditary breast cancer is mutations in the BRCA1 and BRCA2 genes. In normal cells, these genes produce proteins and prevent cancer by preventing the cell from developing abnormally. However, if a genetically mutated copy of one of these two genes is inherited, there is a high risk of developing breast cancer in the lifetime. Women with genetic mutations are younger than women without genetic mutations, and cancer often affects both breasts. Women with genetic mutations also run the risk of developing other cancers, such as ovarian cancer.

Changes in other genes in breast cancer: Other gene mutations may also be linked to hereditary breast cancer. However, these gene mutations are rarer and not as effective as the BRCA gene at increasing the risk of breast cancer. For example;

ATM: The ATM gene helps repair normally damaged DNA. Two genetically abnormal copies of this gene cause ataxia-telangiectasia. Genetically mutated 1 copy can increase the rate of breast cancer in some families.

TP53: The TP53 gene provides instructions for the production of p53 protein, which inhibits abnormal cell growth. A genetic mutation of this gene causes Li-Fraumeni syndrome (named after the 2 researchers who found this disease). People with this syndrome have an increased risk of developing breast cancer, as with some other types of cancer, such as blood cancer, brain tumor, and sarcoma (bone or connective tissue cancer). It is not a common cause of breast cancer.

CHEK2: Li-Fraumeni syndrome can also cause a genetic mutation in the CHEK2 gene. Even if it does not cause this syndrome when mutated, it can double the risk of breast cancer.

PTEN: The PTNE gene normally assists in the functioning of cell development. A mutation in this gene can lead to Cowden’s disease. Although rare, it increases the risk of benign (benign) and malignant (malignant) breast tumors. Besides; It can also cause tumors in the digestive tract, thyroid, uterus and ovaries. Also, the defect in this gene can cause a different disease called Bannayan-Riley-Ruvalcaba syndrome, which is not associated with breast cancer risk.

CDH1: Mutation in this gene leads to hereditary stomach cancer. Early gastric cancer is a rare type. In women, mutations in this gene increase the risk of spreading lobular breast cancer.

STK11: A defect in this gene can cause Peutz-Jeghers syndrome. It causes pigmented spots in the mouth and around the lips, forms polyps in the urine and gastrointestinal tract, and increases the risk of many types of cancer, including breast cancer.

You may be interested in:

  • Not enough second opinions from geneticists for BRCA tests
  • Are multiple gene tests for breast cancer risk replacing BRCA tests?

Familial relationship with breast cancer

The risk of breast cancer is high in a person who has previously had breast cancer in a female family member. Having breast cancer in a first-degree relative (mother, sister, or daughter) doubles this risk. Occurrence in 2 first-degree relatives triples the risk. Although the exact risk is not known, breast cancer seen in a father or brother in the family also increases the risk of breast cancer in women. However, when evaluated as a whole, the rate of breast cancer women with this disease in the family is less than 15%. This means that more than 85% of women with breast cancer do not inherit the disease from their families.


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