• A genetic risk called breast cancer
  • Hasti Okhovatiyan,1 Mohadese Farahani,2,*
    1. Arak University
    2. Arak University


  • Introduction: Breast cancer is one of the most common cancers among women. In the last four decades, the incidence of this cancer has increased rapidly, and this value increases by 0.5% every year. But fortunately, the death rate due to breast cancer has been decreasing since its peak (1989) and we owe this decrease to early diagnosis and prevention methods in many cases.
  • Methods: To write this article, the Google scholar database was used, and in this search, using the advanced search feature, we set a limited date between 2019 and 2023. Searched terms included breast cancer, genes of breast cancer, cancer diagnosis, breast cancer prevention methods, breast cancer statistics, breast cancer treatment.
  • Results: Breast cancer starts when breast cells grow out of control. A large number of breast cancer diagnoses are made through a mammogram (an X-ray scan). Breast cancer diagnosis is also done by touching an abnormal mass by the person or doctor concerned. At the time of diagnosis, the cancer cells may be only in the breast tissue or it may have migrated to the armpit lymph nodes or distant places, and based on the location of the cancer gland, breast cancer has stages 1 to 4; the fourth stage is called metastatic cancer. Risk factors for breast cancer: • Genetic factors: The most common genes in causing breast cancer are BRCA1 and BRCA2, which are involved in the repair of DNA double-strand breaks, which account for about 2.5% of all inherited breast cancer mutations. Other breast cancer causative genes with high and moderate penetrance include cadherin 1 (CDH1), PTEN, protein serine/threonine kinase 11 (STK11), TP53, CHEK2, ataxia telangiectasia mutated (ATM), nibrin (NBN), which may All these genes are associated with BRCA2. Non-genetic factors: Other risk factors include high body mass index, early menarche (before age 13), first delivery over age 30, family history of breast or ovarian cancer, late menopause and postmenopausal hormone therapy, exposure to chest x-rays. , obesity and alcohol, insufficient physical activity and short breastfeeding period. Symptoms of breast cancer: The presence of a palpable mass in about 30% of women, indentation, orange skin appearance, edema, blisters, cuts, secretions from the nipple, nipple shrinkage, and in advanced cases, ulcers are observed. Of course, a palpable mass is also possible in benign conditions. There is a patient referred for diagnosis. Breast cancer diagnosis: After the clinical examination, basic imaging methods including mammography and ultrasound are used for diagnosis. Certain conditions such as dense tissue in the breast, history of breast cancer, history of breast surgery or radiation therapy are used for MRI. To confirm the presence of cancerous tissue, biopsy or needle sampling is performed under the guidance of ultrasound or MRI. Sometimes a piece of the lump in the breast is removed by surgery and sent to pathology for a definitive diagnosis. Prevention of breast cancer: Screening for risk genes and genetic counseling for mutation carriers is a suitable prevention method. Monthly breast and armpit examinations, mammography from the age of 35 years and above, ultrasound and reducing exposure to non-genetic risk factors such as proper physical activity, weight control, no alcohol consumption, birth of the first child at a younger age, no additional hormone therapy after menopause.
  • Conclusion: Considering the side effects of cancer and its role in reducing the quality of life of women and increasing their mortality rate, as well as the high costs of treatment, the role of preventing the occurrence of the disease becomes very important. In this article, we found a correct understanding of genetic factors in the development of breast cancer, which can prevent the disease in a significant number of women by performing genetic tests and genetic counseling.
  • Keywords: breast cancer cancer Genetics prevention