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Health / Tue, 09 Jul 2024 The Times of India

Demystifying breast cancer: A geneticist's take on early detection and new hope

Maintaining a healthy weight, limiting alcohol, and aiming for at least 150 minutes of moderate exercise each week can significantly reduce your breast cancer risk.While most breast cancer cases aren't hereditary, having a family history can increase your risk. Mutations in these genes can leave them less effective, potentially leading to uncontrolled cell division and cancer development.The world of breast cancer research is constantly buzzing. A recent study identified 12 new genes linked to a higher risk of triple-negative breast cancer, particularly in women of African descent. Another exciting area of exploration involves how variations, not necessarily full-blown mutations, in specific genes might influence the type and aggressiveness of breast cancer. By staying informed, taking proactive measures, and embracing the exciting research advancements, we can turn the tide against breast cancer.

Know Your Body:

Early Detection

Saves Lives:

Breast Cancer: Early signs of the disease one must never ignore

Prevention is Key:

The Genetic Puzzle:

Hope on the Horizon:

Why the Rise in Younger Women?

The Bottom Line:

(Dr Richa Soni, Consultant, Medical geneticist, Fortis Memorial Research Institute, Gurugram)

Breast cancer . Those two words can send shivers down anyone's spine. As a medical geneticist , I see firsthand the impact this disease has on millions of women worldwide. But here's the good news: with knowledge comes power. By understanding the early signs, your genetic risk factors, and exciting new research, we can fight back.The first line of defense is self-awareness.Regularly examine your breasts for any lumps, especially those that feel firm and don't move easily. Look for dimpling or puckering on the skin, changes in the nipple (like inversion or discharge), or any alterations in breast size or shape. Don't ignore persistent itching, burning, or localized aches – these could also be red flags.Hereditary breast cancer should be suspected in individuals with a personal or family history (first-, second-, or third-degree relative in either lineage) of any of the following:* Breast cancer diagnosed at or before age 50 years* Ovarian cancer* Multiple (i.e., >1) primary breast cancers in either one or both breasts* Male breast cancer* Triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer* The combination of pancreatic cancer and/or prostate cancer with breast cancer and/or ovarian cancer* Two or more relatives with breast cancer, one diagnosed at or before age 50 years* Three or more relatives with breast cancer at any age* A family member with a known BRCA1 or BRCA2 pathogenic variantBreast cancer screening in women relies on a combination of monthly breast self-examination, annual or semiannual clinical breast examination, annual mammography, and breast MRI.Empower yourself with healthy habits. Maintaining a healthy weight, limiting alcohol, and aiming for at least 150 minutes of moderate exercise each week can significantly reduce your breast cancer risk.While most breast cancer cases aren't hereditary, having a family history can increase your risk. Genes like BRCA1, BRCA2, PALB2, PTEN, TP53, CDH1, STKL1 and ATM play a critical role in DNA repair and keeping cell growth in check. Mutations in these genes can leave them less effective, potentially leading to uncontrolled cell division and cancer development.The world of breast cancer research is constantly buzzing. A recent study identified 12 new genes linked to a higher risk of triple-negative breast cancer, particularly in women of African descent. This is a game-changer, especially for early detection and targeted treatments. Another exciting area of exploration involves how variations, not necessarily full-blown mutations, in specific genes might influence the type and aggressiveness of breast cancer. This opens the door to potentially personalizing treatment based on your unique genetic makeup.The exact reason for the apparent increase in breast cancer among younger women is still under investigation. Dense breast tissue, delayed childbearing, hormonal factors from birth control use, and environmental influences are all potential suspects. Interestingly, early pregnancy and breastfeeding seem to have a protective effect, while delaying childbearing and long-term birth control use might elevate risk.Testing of asymptomatic individuals younger than age 18 years. In general, genetic testing for BRCA1- and BRCA2-associated HBOC is not recommended for at-risk individuals younger than age 18 years. Guidelines established jointly by the American College of Medical Genetics and the American Society of Human Genetics state that predictive genetic testing should only be performed in individuals younger than age 18 years when it will affect their medical management. Surveillance for BRCA1- and BRCA2-associated HBOC is typically recommended to begin at approximately age 25, which is why it is recommended that the decision to test be postponed until an individual reaches adulthood and can make an independent decision. It is important to note, however, that since there are rare reports of individuals with BRCA1- and BRCA2-associated HBOC diagnosed with cancer at very young ages, it is recommended that screening be individualized based on the earliest diagnosis in the family.Early detection is the key to successful treatment. Don't hesitate to consult your doctor if you notice any concerning symptoms. By staying informed, taking proactive measures, and embracing the exciting research advancements, we can turn the tide against breast cancer. Let's fight this together!

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