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

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 tes...

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Veröffentlicht in:Journal of human genetics 2021-03, Vol.66 (3), p.307-314
Hauptverfasser: Okano, Maiko, Nomizu, Tadashi, Tachibana, Kazunoshin, Nagatsuka, Miki, Matsuzaki, Masami, Katagata, Naoto, Ohtake, Toru, Yokoyama, Shiro, Arai, Masami, Nakamura, Seigo
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container_issue 3
container_start_page 307
container_title Journal of human genetics
container_volume 66
creator Okano, Maiko
Nomizu, Tadashi
Tachibana, Kazunoshin
Nagatsuka, Miki
Matsuzaki, Masami
Katagata, Naoto
Ohtake, Toru
Yokoyama, Shiro
Arai, Masami
Nakamura, Seigo
description 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.
doi_str_mv 10.1038/s10038-020-00849-y
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subjects Age
BRCA1 protein
BRCA2 protein
Breast cancer
Consortia
Family medical history
Genetic diversity
Genetic screening
Ovarian cancer
title The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database
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