Genetic testing for breast cancer: A symbol of hope and personalized treatment.

Decoding Breast Cancer Genes: Your Guide to Therapeutic Testing

Lena Kashyap in Health & Wellness November 2025 • 4 min read.

"Understanding BRCA and beyond: A European consensus on genetic counselling and therapeutic decision-making in breast cancer."

Breast cancer affects a significant number of women globally, with a lifetime risk varying across different regions. For those with a family history or genetic predispositions, such as carrying a BRCA1 or BRCA2 mutation, the risk is even higher. Understanding your individual risk is crucial, and genetic testing plays a vital role in assessing this risk and guiding preventative measures.

Traditionally, knowing your BRCA1/2 status has been important for assessing cancer risks and making decisions about early detection and preventative surgeries. But now, genetic information is also impacting treatment strategies. Women with BRCA mutations may choose more aggressive surgical options or benefit from targeted therapies like PARP inhibitors.

Next-generation sequencing (NGS) allows for faster and more comprehensive genetic testing, analyzing BRCA1/2 and other genes linked to breast cancer risk. This opens doors for personalized treatment plans. However, the increasing demand for testing raises questions about infrastructure, resources, and how to effectively integrate genetic information into breast cancer care. To address these concerns, a panel of European experts convened to develop consensus recommendations for genetic counseling and testing in the context of metastatic breast cancer.

Why Genetic Counseling and Testing Are More Important Than Ever

Genetic testing for breast cancer: A symbol of hope and personalized treatment.

An international panel of experts from 17 European countries and Israel gathered to discuss the increasing need for BRCA testing and counseling. The group recognized that as high-throughput testing platforms become more accessible and PARP inhibitors gain traction, there will be a surge in the demand for genetic services. The experts voiced concerns that the existing shortage of genetic counselors could worsen, potentially affecting the quality of care for individuals and families with a history of breast or ovarian cancer.

The panel emphasized the need to broaden education within the breast cancer care community. By training a wider range of specialists to perform genetic counseling, the burden on genetic counselors can be lessened, ensuring that more patients receive timely and informative guidance.

Therapeutic Setting: For patients with a suspected genetic predisposition, BRCA1/2 testing should be done after a breast cancer diagnosis, regardless of hormone receptor or HER2 status, especially if the results will influence treatment decisions.
Predictive and Therapeutic Setting: Genetic testing should focus on individuals with a personal or family history suggestive of BRCA1/2 mutations, and should consider other high-risk genes.
Reporting of Variants: Pathological variants (class IV and V) in high-risk genes should always be reported. Class III variants (variants of unknown significance) should also be reported, clearly stating the current lack of clinical utility.
Re-Contacting: Genetic counseling should inform patients that they may be contacted in the future if new information changes the classification of a variant.

The experts agreed that a basic gene panel should include BRCA1, BRCA2, TP53, and PALB2. While different populations might require testing for additional genes, these four represent the minimum standard. They also stressed that analyzing only the most common BRCA1/2 variant loci (“hotspot testing”) is not sufficient, given the affordability and thoroughness of NGS. An exception might be made for founder mutations that account for a large majority of pathogenic variants in a specific population.

The Future of Genetic Testing in Breast Cancer

The experts envision a future where genetic testing is seamlessly integrated into breast cancer care, guiding both preventative and therapeutic strategies. While challenges remain in terms of resources and infrastructure, these consensus recommendations provide a roadmap for optimizing genetic services and ensuring that patients receive the best possible care. Prioritizing BRCA1/2 testing for a larger number of potential carriers, rather than using large gene panels on a smaller number of individuals, will help in this goal.

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This article is based on research published under:

DOI-LINK: 10.1016/j.ejca.2018.10.007, Alternate LINK

Title: Genetic Counselling And Testing Of Susceptibility Genes For Therapeutic Decision-Making In Breast Cancer—An European Consensus Statement And Expert Recommendations

Subject: Cancer Research

Journal: European Journal of Cancer

Publisher: Elsevier BV

Authors: Christian F. Singer, Judith Balmaña, Nicole Bürki, Suzette Delaloge, Maria Elisabetta Filieri, Anna-Marie Gerdes, Eli Marie Grindedal, Sileni Han, Oskar Johansson, Bella Kaufman, Mateja Krajc, Niklas Loman, Edith Olah, Shani Paluch-Shimon, Natalija Dedic Plavetic, Kamil Pohlodek, Kerstin Rhiem, Manuel Teixeira, D. Gareth Evans

Published: 2019-01-01

Everything You Need To Know

Why is it important to understand my BRCA1/2 status and what role do TP53 or PALB2 mutations play in assessing breast cancer risk?

BRCA1 and BRCA2 genes are significant because mutations in these genes increase the risk of breast cancer. Knowing your BRCA1/2 status informs decisions about early detection, preventative surgeries, and treatment strategies, including the use of targeted therapies like PARP inhibitors. Furthermore, understanding if you carry a TP53 or PALB2 mutation is critical, as these are now considered basic genes that should be investigated. Next-generation sequencing (NGS) allows for comprehensive genetic testing, analyzing BRCA1/2 and other genes linked to breast cancer risk.

When should BRCA1/2 testing be performed according to the European consensus, and on whom should the testing be focused?

The European consensus recommends that BRCA1/2 testing should be performed for patients with a suspected genetic predisposition after a breast cancer diagnosis, irrespective of hormone receptor or HER2 status, mainly when the results will influence treatment decisions. The focus should be on individuals with a personal or family history that suggests BRCA1/2 mutations, and testing should also consider other high-risk genes like TP53 and PALB2 to provide a comprehensive genetic profile that guides personalized treatment and prevention strategies.

Which variants must be reported in genetic testing, and how should Class III variants (variants of unknown significance) be handled?

Pathological variants (class IV and V) in high-risk genes such as BRCA1, BRCA2, TP53, and PALB2 must always be reported because they have a confirmed association with increased cancer risk and can directly impact clinical decisions. While Class III variants (variants of unknown significance) should also be reported, it should be clearly communicated that their clinical utility is currently uncertain. This distinction ensures that patients and healthcare providers can focus on actionable information while remaining aware of potentially relevant but not yet fully understood genetic variations.

Why is hotspot testing insufficient for BRCA1/2 variant analysis, and what is the recommended approach?

The consensus recommends against hotspot testing due to the affordability and thoroughness of Next Generation Sequencing (NGS). NGS comprehensively analyzes BRCA1/2 and other genes linked to breast cancer risk. NGS offers a more complete picture of an individual's genetic predispositions, allowing for more informed and personalized risk assessment and treatment strategies. An exception might be made for founder mutations that account for a large majority of pathogenic variants in a specific population.

How can genetic testing resources be optimized to benefit a larger number of potential carriers of breast cancer genes?

The expert panel suggests prioritizing BRCA1/2 testing for a larger number of potential carriers, rather than using large gene panels on a smaller number of individuals, will help in this goal. This strategy helps ensure that those most likely to benefit from genetic information receive testing, maximizing the impact of limited resources and allowing for more targeted preventative and therapeutic interventions. This approach facilitates broader access to potentially life-saving information and personalized care strategies.