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

Eri Haneda, 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
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Eri Haneda: Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Ann Sato: Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Nobuyasu Suganuma: Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Yoshiko Sebata: Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Saki Okamoto: Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Soji Toda: Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Kaori Kohagura: Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Yuka Matsubara: Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Yuko Sugawara: Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Takashi Yamanaka: Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Toshinari Yamashita: Department of Breast and Endocrine Surgery, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Satoru Shimizu: Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama 241-8515, Japan
Hiroto Narimatsu: Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama 241-8515, Japan

IJERPH, 2022, vol. 19, issue 10, 1-6

Abstract: 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.

Keywords: HBOC; NCCN; screening; genetic testing; BRCA1/2 (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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