The frequency of genetic testing among family members with BRCA mutation and factor analysis in HBOC

• Published in: JOURNAL OF FAMILIAL TUMORS Vol. 19; no. 2; pp. 60 - 65
• Main Authors: Kanai, Hisako, Takei, Junko, Yoshida, Atsushi, The registration committee of the Japanese HBOC consortium, Yamauchi, Hideko, Watanabe, Chie, Yokoyama, Shiro, Aoki, Mikiko, Okawa, Megumi
• Format: Journal Article
• Language: Japanese
• Published: The Japanese Society for Hereditary Tumors 2019; 一般社団法人日本遺伝性腫瘍学会
• Subjects: hereditary breast and ovarian cancer, pedigree , genetic testing; 遺伝性乳がん卵巣がん，家系員，遺伝学的検査
• ISSN: 1346-1052; 2189-6674
• DOI: 10.18976/jsft.19.2_60

Appropriate surveillance and risk-reducing surgery based on genetic testing may lead to early diagnosis and the prevention of HBOC. In Japan, the current situation regarding genetic testing or appropriate treatment based on genetic testing for family members of patients with BRCA1/2 pathogenic mutations is not clear. The purpose of this study was to investigate genetic testing rates and background characteristics of examinees in Japanese pedigrees with BRCA1/2 mutations. We statistically analyzed records from the Japanese HBOC consortium. Seventy-five of 180 pedigrees (131 people) with BRCA1/2 mutations underwent genetic testing. The examinees were mostly female, and often belonged to pedigrees having a strong family history. Based on these results, it is important to disseminate correct knowledge about HBOC to medical workers and the general public.