The Evolving Landscape of Breast โคCancer prevention: โFrom โRisk to Action
Breast cancer remains a important โคpublic health concern, tho the โขmajority of cases arise from environmental factors or occur randomly.โ However, a notable 5-10% of cases, as identified by the Brazilian National Cancer โInstitute (INCA), are linked to inherited genetic mutations, particularly in genes like BRCA1 โand BRCA2. โฃFor women carrying these mutations, lifetime risk can soar aboveโข 70%, underscoring a critical need โfor expanded accessโ to genetic โtesting and expert counseling. โKnowing one’s risk isn’t simplyโค about having details; it’s about โฃempowering life-saving decisions, asโ powerfully demonstratedโ byโ figures like Angelina Jolie who chose โฃpreventative surgery after discovering a BRCA1 mutation.
but advancements in oncology extend far beyond identifying genetic predispositions.โ Innovative genomic tests,suchโ as โEndoPredict,nowโ allowโ clinicians to assess the likelihood of โขmetastasis in specific breast โฃcancer subtypes,enabling a more โprecise determination ofโค whether chemotherapy is truly necessary. This represents a fundamental โshift โin cancerโ care – moving beyond simply aiming for a cure to personalizing and optimizing โค treatment, minimizing unnecessary side effects โฃfor patients.
the future of breastโ cancer prevention lies inโข a synergistic approach, integrating genetics,โฃ cutting-edge technology, and equitable access to care. Women with a โคfamily history ofโ the disease should be routinely offered โguidance and early screening as part of their healthcare. Transforming data about tumor โฃpredisposition and behavior into actionable strategies – prevention, early intervention,โ and ultimately,โฃ saved lives – is the ultimate goal.
The progress in oncogenetics has yielded increasingly comprehensive, rapid, and affordable testing options. The Hereditary Cancer Panel, such as, analyzes โขa range of genes associated โwith cancer predisposition syndromes, including those linked to breast, ovarian, prostate,โ colon, pancreatic, and โmelanoma cancers. This panel serves as a primary tool for investigating hereditary cancer risk, benefiting both those already diagnosed โคand individuals โคwith a significant โor unknownโ family history.
Utilizing technologies like โnext-generation sequencing (NGS) and copy number variation (CNV) โanalysis, these โขtests offerโข a more โขaccurate assessment of germline mutations then conventional methods, more effectively identifying individuals at elevated risk. โคFurther expanding personalized medicine, tests likeโ MammaPrint and โOncotype DX provide crucialโ insights into the necessity – or lack thereofโ – of chemotherapy.
Accessibility is alsoโ improving. Isolated BRCA1/BRCA2โ sequencing and Breast and Ovarian โฃNGS panels (covering over 20 genes) are now covered by theโค ANS, facilitating access for women with a historyโ ofโค cancer. For more complex cases, more extensive panels like the Expanded Hereditaryโ Cancer Panel (PCHA) or customized exome-based tests can aid in diagnosis for โfamilies with multiple cancer occurrences.
This integration of advanced testing into clinical practice signifies a paradigm shift in how โwe approach cancer. We areโค moving away from a reactive model – interveningโ only after disease onset – towards a proactive strategyโ based on risk stratification,โค personalized prevention, and โtreatment decisions informedโ byโข molecularโค data. The impact โis already demonstrable: women with identified pathogenic mutations who adhere to recommendedโ screening or prevention protocols experiance โฃa significant reduction in mortality. By prioritizing medical education and expanding access to services โคlike genetic counseling, โคwe are steadily translating scientific breakthroughs intoโค tangible improvements in patient care.
Ultimately, understanding our risks earlierโ empowers us to take โpreventative action, a message particularly resonant during โฃbreast Cancer Awareness Month.
Thereza Loureiro โฃ- โฃOncogeneticist โคand medical education coordinatorโข at Dasa Genomics
