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Communication

Efficacy of Clinical Guidelines in Identifying All Japanese Patients with Hereditary Breast and Ovarian Cancer

1
Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama 241-8515, Japan
2
Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
3
Department of Nursing, Kanagawa Cancer Center, Yokohama 241-8515, Japan
4
Cancer Prevention and Control Division, Kanagawa Cancer Center Research Institute, Yokohama 241-8515, Japan
5
Graduate School of Health Innovation, Kanagawa University of Human Services, Kawasaki 210-0821, Japan
*
Author to whom correspondence should be addressed.
Academic Editor: Paul B. Tchounwou
Int. J. Environ. Res. Public Health 2022, 19(10), 6182; https://doi.org/10.3390/ijerph19106182
Received: 6 April 2022 / Revised: 11 May 2022 / Accepted: 16 May 2022 / Published: 19 May 2022
(This article belongs to the Special Issue Data Science and New Technologies in Public Health)
Clinical screening using the National Comprehensive Cancer Network (NCCN) testing criteria may fail to identify all patients with hereditary breast and ovarian cancers. Thus, this study aimed to evaluate the strategy of expanding target patients for genetic testing among Japanese patients. We reviewed the medical records of 91 breast cancer patients who underwent genetic testing. Among 91 patients, eight were diagnosed with pathogenic or likely pathogenic variants: BRCA1 (n = 4) and BRCA2 (n = 4). Among 50 patients meeting the testing criteria of the guidelines, 6 (12%) were diagnosed with pathogenic or likely pathogenic variants. The sensitivity and specificity of screening using the testing criteria were 75% and 47%, respectively. Expanding the NCCN criteria to include all women diagnosed with breast cancer aged ≤65 years achieved 88% sensitivity but 8% specificity. The expansion of the NCCN criteria could benefit Japanese patients; however, larger studies are necessary to change clinical practice. View Full-Text
Keywords: HBOC; NCCN; screening; genetic testing; BRCA1/2 HBOC; NCCN; screening; genetic testing; BRCA1/2
MDPI and ACS Style

Haneda, E.; Sato, A.; Suganuma, N.; Sebata, Y.; Okamoto, S.; Toda, S.; Kohagura, K.; Matsubara, Y.; Sugawara, Y.; Yamanaka, T.; Yamashita, T.; Shimizu, S.; Narimatsu, H. Efficacy of Clinical Guidelines in Identifying All Japanese Patients with Hereditary Breast and Ovarian Cancer. Int. J. Environ. Res. Public Health 2022, 19, 6182. https://doi.org/10.3390/ijerph19106182

AMA Style

Haneda E, Sato A, Suganuma N, Sebata Y, Okamoto S, Toda S, Kohagura K, Matsubara Y, Sugawara Y, Yamanaka T, Yamashita T, Shimizu S, Narimatsu H. Efficacy of Clinical Guidelines in Identifying All Japanese Patients with Hereditary Breast and Ovarian Cancer. International Journal of Environmental Research and Public Health. 2022; 19(10):6182. https://doi.org/10.3390/ijerph19106182

Chicago/Turabian Style

Haneda, Eri, Ann Sato, Nobuyasu Suganuma, Yoshiko Sebata, Saki Okamoto, Soji Toda, Kaori Kohagura, Yuka Matsubara, Yuko Sugawara, Takashi Yamanaka, Toshinari Yamashita, Satoru Shimizu, and Hiroto Narimatsu. 2022. "Efficacy of Clinical Guidelines in Identifying All Japanese Patients with Hereditary Breast and Ovarian Cancer" International Journal of Environmental Research and Public Health 19, no. 10: 6182. https://doi.org/10.3390/ijerph19106182

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