BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types
BACKGROUND: Previous family-based and case-control studies have expanded the cancer risk profile associated with pathogenic variants in BRCA1 and BRCA2, providing the potential for expanding personalized medicine. Less common cancer types may benefit greatly from such expansion of genetic evidence because of their limited treatments and poor prognoses. METHODS: We conducted a case-control analysis of 3489 patients with nine less common cancer types (bladder, bone, brain, head and neck, sarcoma, skin, testis, thyroid, or ureteral cancer) and 38 842 controls without cancer to estimate the risk associated with BRCA1 and BRCA2 pathogenic variants of nine less common cancer types. RESULTS: = 92.70%). CONCLUSIONS: These results provide evidence to inform more precise personalized medical options for individuals with BRCA1 or BRCA2 pathogenic variants.
Authors
- K. Matsuo
- Y. Momozawa
- Y. Iwasaki
- G. Innella
- M.T. Parsons
- Y.N. Koyanagi
- K. Numakura
- M. Endo
- A.B. Spurdle
- Y. Kamatani
- K. Matsuda
- J. Hadler
- H. Sasagawa
- Y. Usui
- T. Habuchi
- Y. Murakami
Institutions
- Akita University (JP)
- QIMR Berghofer Medical Research Institute (AU)
- Aichi Cancer Center (JP)
- RIKEN Center for Integrative Medical Sciences (JP)
- The University of Tokyo (JP)
- Nippon Medical School (JP)
Publication Details
- Journal
- ESMO Open
- Published
- 2026-04-01
- DOI
- https://doi.org/10.1016/j.esmoop.2026.106900
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- National Health and Medical Research Council
- RIKEN