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.

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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

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article

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types

K. Matsuo, Y. Momozawa, Y. Iwasaki, G. Innella et al.
ESMO Open
BRCA gene mutations in cancer
article

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types

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
article en

Abstract

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.

ESMO OpenVol. 11(4)
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)
Japan Agency for Medical Research and Development, National Health and Medical Research Council, RIKEN
Good health and well-being
Openalex Percentile: Top 20%
BRCA gene mutations in cancer
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BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types — K. Matsuo, Y. Momozawa, et al. · ESMO Open (2026) | TGRS Research Map | TGRS