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October 24, 2024

Breast Cancer Insights: The Genetic Landscape and Genomenon's Role in Advancing Research

October marks Breast Cancer Awareness Month, a time dedicated to shedding light on a disease that impacts countless individuals and families. It is crucial to explore the far-reaching effects of breast cancer, understand its symptoms, and delve into the resources available to researchers and healthcare professionals.

The Importance of Awareness

Breast cancer stands as the most prevalent cancer among women worldwide, constituting nearly 12% of all new cancer cases. The World Health Organization (WHO) reported approximately 2.3 million new cases of breast cancer and 685,000 deaths in 2020 alone1. Despite strides in early detection and treatment, breast cancer remains a formidable health challenge, necessitating ongoing research and heightened awareness.

Breast cancer and genetics

Breast cancer is a complex disease influenced by various genetic factors, with specific inherited variants significantly increasing the risk of developing the condition. Identifying these genetic alterations through testing can facilitate early detection and tailored management strategies, empowering individuals with critical information about their risk. In addition to hereditary factors, somatic variants play a crucial role in the development and progression of breast cancer. These variants can occur in genes involved in cell growth, repair, and apoptosis, leading to uncontrolled cell division and tumor formation. Research has shown that analyzing the genetic profile of breast tumors can provide valuable insights into the specific pathways driving an individual’s cancer, allowing for more precise treatment approaches. By leveraging genomic data, oncologists can tailor therapies to target the unique characteristics of a patient’s cancer, enhancing the effectiveness of treatment and potentially improving survival rates. This ongoing research highlights the importance of integrating genetics into breast cancer care, as it opens new avenues for personalized medicine and more effective interventions.

Enhancing Research with CKB and MM: A Content Overview

To contribute to the fight against breast cancer, it’s crucial to emphasize the importance of the BRCA1 and BRCA2 genes, which are among the primary genetic causes of the disease. Both of these pivotal genes are meticulously curated in our Mastermind Genomic Intelligence Platform, offering researchers and clinicians comprehensive insights into their roles in breast cancer risk and treatment. The curation of BRCA1 and BRCA2 in MM allows users to access a wealth of information, including variant interpretations, associated clinical implications, and the latest research findings, thereby enhancing the understanding of these genes’ impact on patient care.

In addition, our Cancer Knowledgebase (CKB) provides researchers and clinicians with essential tools. Through CKB CORE, which is available for free, we offer access to 50 genes. This quarter, we are focusing on tumor suppressor genes, many of which play a significant role in breast cancer research, including ATM, CHEK2, PTEN, RAD51C, RAD51D, and TP53. By sharing this robust database, we aim to empower researchers with the critical information needed to advance their studies and improve patient outcomes.

Moreover, the drug section of the CKB includes detailed information on therapeutics that target specific genetic alterations, enabling researchers and clinicians to tailor potential treatment options for individual patient profiles. The clinical trial section offers a comprehensive overview of ongoing and completed studies related to breast cancer, facilitating the exploration of innovative therapies and their efficacy. By leveraging these resources, researchers can stay informed about the latest advancements and treatment possibilities, ultimately contributing to improved patient outcomes and the evolution of breast cancer care.

Mastermind and CKB can play a crucial role in driving advancements in breast cancer research while significantly improving patient care. By providing comprehensive data, insights, and curated information, they empower researchers and clinicians to make informed decisions, leading to innovative treatments and better outcomes for patients battling breast cancer.

Beyond Curation: Genomenon’s Commitment to Breast Cancer Awareness and Advocacy

At Genomenon, our dedication to breast cancer awareness extends beyond the curation of causative genes. This year, several of our colleagues proudly participated in Race for the Cure, Europe’s largest sporting event for women’s health. The event not only raises crucial awareness but also helps breast cancer organizations and hospitals secure the funds they need for life-saving initiatives.

These funds play a vital role in supporting early detection, treatment programs, and patient care services—resources that are more critical now than ever.  

By taking part in this meaningful event, our team embodied the spirit of advocacy, demonstrating that Genomenon’s mission is not just scientific but deeply personal, driven by the desire to support both research and patient communities.

Conclusion

As we observe Breast Cancer Awareness Month this October, let us unite in raising awareness, recognizing symptoms, and supporting research initiatives. Together, we can make a difference in the lives of those affected by breast cancer.

 https://www.who.int/initiatives/global-breast-cancer-initiative

AUTHOR
Selma Muratovic
Curation Scientist II & Scientific Writer
Genomenon
The World’s Most Comprehensive Source of Genomic Evidence

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