BREAST CANCER GENETICS: THINK PINK, ACT EARLY, SUPPORT EVERY SURVIVOR ๐ŸŽ—

“DNA repair protects the integrity of our genetic information; when repair systems fail, mutations can accumulate and contribute to cancer.” - Paul Modrich

๐Ÿงฌ Breast cancer develops when abnormal breast cells grow uncontrollably. Inherited pathogenic variants in BRCA1, BRCA2, PALB2, TP53 and CHEK2 can increase susceptibility. However, most breast cancers are not directly attributable to inherited variants; ageing, acquired genetic alterations & other factors also contribute. Understanding genetic risk supports informed decisions about prevention, screening & treatment.

๐Ÿ”น A family history of early-onset breast cancer, ovarian cancer, male breast cancer or multiple affected relatives may indicate hereditary susceptibility. Genetic counselling & appropriate testing can inform personalised surveillance, risk-reduction strategies & family risk assessment. A positive result does not guarantee cancer will develop, while a negative result does not eliminate risk.

๐Ÿ”น The pink ribbon represents solidarity, awareness & hope. Regular physical activity, maintaining a healthy weight, limiting alcohol & avoiding tobacco can help reduce certain cancer risks. Individuals with a strong family history should discuss personalised assessment with a qualified healthcare professional. Breast cancer can also affect men.

๐Ÿ”น Warning signs include a new breast or armpit lump, changes in breast size or shape, skin dimpling, nipple inversion or unusual discharge. Although many breast changes are benign, new or persistent symptoms require prompt medical assessment. Mammography is an important screening tool; people at increased hereditary risk may need additional surveillance, including MRI. Recommendations should reflect individual risk & local clinical guidance.

➡️ Advances in cancer genomics are transforming diagnosis & treatment. Selected patients with BRCA1/BRCA2-associated cancers may benefit from targeted therapies, including PARP inhibitors. Treatment decisions also depend on tumour stage, hormone receptors, HER2 status & other clinical features. Equitable access to genetic services, timely diagnosis & evidence-based treatment remains essential.

⚠️ In an Oystershell, breast cancer care extends beyond treatment. Survivors may need psychological support, rehabilitation, follow-up care, financial assistance & help understanding inherited risk. Families, healthcare professionals, researchers & communities all have a role in reducing stigma & addressing inequalities in cancer services.

Abubakar Abubakar ✍

• Kuchenbaecker KB, et al. (2017). JAMA, 317(23), 2402-2416.

• Antoniou A, et al. (2003). American Journal of Human Genetics, 72(5), 1117-1130.

• Tutt ANJ, et al. (2021). New England Journal of Medicine, 384, 2394-2405.

#BreastCancerAwareness #ThinkPink #EarlyDetection #BRCA1 #BRCA2 #PrecisionMedicine #CancerGenetics #GeneticCounselling #CRISPR #NGS #PGT #IVF #ART ⚕

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