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. 2021 Mar;66(3):307-314.
doi: 10.1038/s10038-020-00849-y. Epub 2020 Oct 12.

The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database

Maiko Okano  1   2 , Tadashi Nomizu  3 , Kazunoshin Tachibana  3   4 , Miki Nagatsuka  3 , Masami Matsuzaki  3 , Naoto Katagata  3 , Toru Ohtake  4 , Shiro Yokoyama  5 , Masami Arai  6 , Seigo Nakamura  5
Affiliations

The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database

Maiko Okano et al. J Hum Genet. 2021 Mar.

Abstract

BRCA1/2 pathogenic variant prevalence in Japanese breast cancer is unclear. Here, we analyzed BRCA1/2 pathogenic variant prevalence with a particular focus on age factors, using the Japanese HBOC consortium database. All registered subjects were Japanese individuals who underwent BRCA1/2 genetic testing from January 1996 to July 2017 according to the Japanese HBOC consortium database. Cases were extracted and analyzed for each evaluation item. Overall BRCA1 and BRCA2 pathogenic variant prevalence was 11.2% and 9.0% in the cohort of 2366 proband patients, respectively. The age at onset of breast cancer for patients with BRCA1/2 pathogenic variants was significantly lower than that for patients without a BRCA1/2 pathogenic variant. In both BRCA1/2 patients, ages at onset were not statistically significantly different between two subtype groups (ER-positive vs. TNBC). We analyzed the BRCA1/2 pathogenic variant prevalence among age groups in patients with no family history of breast or ovarian cancer. In the TNBC group, the rate of genetic variants was more frequent among younger patients. Our results demonstrated that early breast cancer onset is associated with a BRCA1/2 pathogenic variant in the Japanese population. Younger TNBC patients were more likely to have a BRCA1/2 pathogenic variant irrespective of a family history of breast or ovarian cancer.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
The prevalence of BRCA1 and BRCA2 variant among the cases who underwent the screening test. The total number of cases was 2366
Fig. 2
Fig. 2
a Comparison of frequency distribution by age at onset of breast cancer in cases with or without BRCA1/2 variants and the general statistics. b Age distribution of the cases with or without BRCA1/2 variants
Fig. 3
Fig. 3
The prevalence of BRCA1 and BRCA2 variants stratified by subtype and age groups in the cases with no family history of breast or ovarian cancer. Red bars indicate BRCA1 variants and blue bars indicate BRCA2 variants
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