Waxahachie, Texas -
Texas Breast Center sheds light on the crucial role of genetic mutations in breast cancer risk assessment and management.
Breast cancer remains the most prevalent form of cancer among women worldwide, with a staggering 2.3 million new cases diagnosed in 2020 alone. While various factors contribute to its development, genetics plays a pivotal role. Texas Breast Center, a leader in breast cancer care, presents an enlightening article on the impact of genetic mutations on breast cancer risk and explores strategies for effective risk management.
Genetic mutations have emerged as key determinants of breast cancer susceptibility. Among the prominent mutations associated with breast cancer risk are BRCA1 and BRCA2. These genes, responsible for suppressing tumor growth, can be disrupted by mutations, elevating the likelihood of breast and ovarian cancer. “These genes are involved in regulating cell growth and repair, and when mutated, they can disrupt normal cellular processes in breast tissue,” Dr. Gorman explains in the article. “Mutations in these breast cancer genes can be inherited or acquired, and women with a family history of breast cancer are at higher risk.” Early detection through regular screenings is essential, particularly for women with a family history of breast cancer.
In addition to BRCA1 and BRCA2, the article highlights other significant mutations, including PALB2, TP53, CHEK2, ATM, PTEN, CDH1, NF1, and STK11. Each mutation carries varying degrees of risk, emphasizing the importance of genetic testing and counseling to assess individual susceptibility accurately. Genetic testing involves analyzing blood or saliva samples to identify abnormalities in these genes.
Individuals harboring PALB2 mutations face an increased risk of breast and pancreatic cancer, while TP53 mutations correlate with a higher likelihood of breast cancer, as well as other cancers such as brain, bone, and soft tissue tumors. CHEK2 mutations moderately elevate the risk of breast cancer, while ATM mutations confer a similar increase. PTEN mutations, on the other hand, significantly heighten the risk of breast, thyroid, and endometrial cancer. Additionally, CDH1 mutations increase the risk of hereditary diffuse gastric cancer syndrome and lobular breast cancer, while STK11 mutations raise the risk of Peutz-Jeghers syndrome and breast cancer. Lastly, NF1 mutations are associated with neurofibromatosis type 1 and an augmented risk of breast cancer.
Dr. Valerie Gorman, a renowned breast cancer surgeon at Texas Breast Center, explains, "Understanding genetic mutations in breast cancer is vital for informed decision-making and personalized treatment plans. At Texas Breast Center, we offer comprehensive genetic testing and counseling services to empower our patients with the knowledge they need to navigate their breast cancer journey effectively."
By shedding light on the connection between genetic mutations and breast cancer, Texas Breast Center aims to raise awareness among medical professionals, patients, and the public. The article provides valuable insights into the inheritance patterns, screening options, and prevention strategies associated with these mutations, equipping readers with the information needed to make informed decisions about their health.
Valerie J. Gorman, MD, FACS, is a surgeon of oncology and diseases of the breast. She is board certified by the American Board of Surgery and serves as Chief of Surgery and Medical Director of Surgical Services at Baylor Scott & White Medical Center.
Dr. Gorman is dedicated to offering each of her patients a completely personalized and targeted approach to the treatment of their breast cancer, combining her expertise in breast surgery with her team’s knowledge in other treatment options.
Valerie J. Gorman, MD, FACS, is a surgeon of oncology and diseases of the breast. She is board certified by the American Board of Surgery and serves as Chief of Surgery and Medical Director of Surgical Services at Baylor Scott & White Medical Center.
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