Understanding Breast Cancer Genes: Guidelines for Testing - Discovering When and How to Undergo Testing for Breast Cancer Genes
Breast cancer, the most prevalent cancer in women after skin cancer, can have a genetic or inherited cause in up to 15% of cases. Genetic testing is the only way to determine if one has a mutation in the breast cancer genes, with BRCA1 and BRCA2 being the most common when mutated. Other genes linked to breast cancer include PTEN, ATM, TP53, STK11, PALB2, BARD1, RAD51D, RAD53C, and BRIP1.
These gene mutations can increase the risk of various cancers, not just breast cancer, including colorectal, endometrial/uterine, melanoma, metastatic prostate, ovarian, pancreatic, and thyroid cancer.
Genetic testing is recommended for individuals who have already been diagnosed with breast cancer, depending on their family history and other factors. Those who have not been diagnosed can also consider genetic testing if they have a close family member with certain cancers or a known family history of gene mutations.
If you're found to have a gene mutation, it doesn't mean you'll definitely get cancer, but it does indicate an increased risk. A negative result, on the other hand, doesn't guarantee you won't get breast cancer, as most cases of breast cancer are not hereditary.
If you test positive for a breast cancer gene, healthcare providers can perform enhanced screenings to catch cancer early, when it's most treatable. Knowledge of genetic predisposition can be empowering and lead to effective preventive measures.
It's essential to continue with recommended screenings and following the American Cancer Society's guidelines, even if you test negative for gene mutations. Genetic testing may not be necessary for everyone, and testing everyone in the general population would be inefficient, given the low frequency of the gene mutations in the population.
- In addition to breast cancer, gene mutations found in BRCA1, BRCA2, PTEN, ATM, TP53, STK11, PALB2, BARD1, RAD51D, RAD53C, and BRIP1 can also raise the risk of various other cancers like colorectal, endometrial/uterine, melanoma, metastatic prostate, ovarian, pancreatic, and thyroid cancer.
- For individuals who have already been diagnosed with breast cancer, genetic testing is recommended, considering their family history and other factors, as it is the only way to determine if one has a mutation in the breast cancer genes.
- Those who have not been diagnosed with breast cancer can consider genetic testing if they have a close family member with certain cancers or a known family history of gene mutations, as it can indicate an increased risk for the disease.
- A positive result from a breast cancer gene test does not guarantee that an individual will develop cancer, but it does suggest an increased risk. Early and enhanced screenings, when cancer is most treatable, can be performed by healthcare providers if a mutation is detected.
