A discovery expands the role of BRCA genes to new cancers

By Elodie Vaz | Published on April 22, 2026 | 3 min read


Mutations in the BRCA1 and BRCA2 genes have historically been associated with an increased risk of breast and ovarian cancers, as well as pancreatic and prostate cancers. These genes play a key role in DNA repair, and their pathogenic variants impair this mechanism, promoting the accumulation of genetic abnormalities and cellular transformation. This understanding has enabled the development of personalized medicine strategies, particularly through the use of PARP inhibitors. However, for many rarer cancers, the involvement of these genes has remained largely unexplored.  

In this context, an international team led by the RIKEN Center for Integrative Medical Sciences (IMS) sought to fill this knowledge gap in a study published in April in the journal ESMO Open. The aim was to determine whether pathogenic variants in BRCA1 and BRCA2 might also be involved in other types of cancer, thereby opening the door to new applications of personalized medicine. “While previous studies have expanded the cancer risk profile associated with BRCA1/2 pathogenic variants […] we were convinced that less common cancers would also benefit from deeper genetic investigation,” said Professor Hajime Sasagawa, first author of the study.

Exploring often-overlooked cancers

The researchers conducted a case-control study using data from BioBank Japan, including 3,489 cancer patients and 38,842 control individuals. The data, collected between 2003 and 2018, come from a large multi-institutional hospital registry. The analysis focused on nine types of cancer whose association with BRCA genes had not yet been clearly established: bladder, bone, brain, head and neck, sarcomas, skin, testicular, thyroid, and ureter cancers.Patients’ genetic profiles were compared with those of controls to identify significant correlations between BRCA variants and the occurrence of these cancers.   

The results reveal new associations. Pathogenic variants in the BRCA1 gene are linked to an increased risk of thyroid cancer. Meanwhile, BRCA2 variants significantly increase the risk of bladder, head and neck, and skin cancers. Notably, in the case of bladder cancer, this risk appears higher in women than in men.  

These findings considerably broaden the spectrum of cancers associated with BRCA mutations and suggest that common mechanisms of defective DNA repair may be involved in these conditions, which had not previously been linked to these genes.  

Thyroid, skin, bladder… new links uncovered

This study represents an important step forward in understanding rare cancers and their management. It suggests that personalized medicine approaches already used for breast or ovarian cancers could be extended to other indications, often characterized by poor prognosis and limited therapeutic options.  

As Professor Yukihide Momozawa, senior author, notes: “Although this study does not immediately lead to clinical recommendations […] we hope that these findings will contribute to the development of personalized medicine guidelines for these four cancer types.”  

Ultimately, this work paves the way for future targeted clinical trials and better integration of genetic profiles into the management of rare cancers, laying the groundwork for a more inclusive precision oncology.    



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About the Author – Elodie Vaz
Health journalist, CFPJ graduate (2023).
Élodie explores the marks diseases leave on bodies and, more broadly, on human life. A registered nurse since 2010, she spent twelve years at patients’ bedsides before exchanging her stethoscope for a notebook. She now investigates the links between environment and health, convinced that the vitality of life cannot be reduced to that of humans alone.