Breast Cancer Mutations: What You Need To Know

Posted by Punit Kumar
September 15, 2017

Self-Published

Genetic mutations are a well-known risk factor for breast cancer. Some women genetically possess certain mutations that put them at an increased risk of breast cancer.

Genetic mutation was not known as an important risk factor until a few years back. Women especially became overly concerned about whether they are genetically predisposed to breast cancer when Angelina Jolie publically announced to have decided to get mastectomy done for breast cancer prevention.

 

The most common genetic mutations that people today know about include the BRCA tumor-suppressor genes, BRCA1 and BRCA2. Even though they are the best-known mutations that may result in breast cancer, there are a plethora of other genetic mutations as well that may result in an uncontrolled proliferation of cells in the breast tissue.

According to researchers, there are as many as 20 different genetic mutations that may drive the development of breast cancer in women. One such mutation concerns the gene named PALB2, which is responsible for repairing the broken strands of DNA.

Thus, the malfunction of PALB2 gene due to genetic alteration or mutation may result in accumulation of non-repaired DNA strands. This, in turn, may lead to uncontrolled proliferation of cells leading to cancer.

Just like BRCA gene mutations, mutations in the PALB2 genes may also indicate an increased risk of cancer that extends well beyond the breasts. A research study has discovered that faulty PALB2 gene may mean high susceptibility for breast and pancreatic cancer.

This is evident from the case of a 45-year-old woman who was diagnosed with cancer confined to the milk ducts. She possessed PALB2 mutation just like her mother and her sister. But her 51-year-old sister was diagnosed with Stage 2A breast cancer and her 73-year-old mother had developed thyroid cancer. The maternal grandmother of another woman with PALB2 gene mutation had both pancreatic and cervical cancer.

According to experts, BRCA1 and BRCA2 mutations are just the tips of the iceberg. There are several such mutations that may put a woman at an increased risk of breast cancer.

Therefore, women who have a strong family history of breast cancer or for that matter, any other cancer should undergo genetic testing to know their real risk of getting cancer. Prior information about genetic predisposition to cancer can help prepare better diagnosis and treatment plan.

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Source: https://medium.com/@lyfboatblogs/breast-cancer-mutations-what-you-need-to-know-aab202cb8092

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