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The relationship between BRCA -associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2020-10-12 , DOI: 10.1038/s10038-020-00849-y
Maiko Okano 1, 2 , Tadashi Nomizu 1 , Kazunoshin Tachibana 1, 2 , Miki Nagatsuka 1 , Masami Matsuzaki 1 , Naoto Katagata 1 , Toru Ohtake 2 , Shiro Yokoyama 3 , Masami Arai 4 , Seigo Nakamura 3
Affiliation  

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.



中文翻译:

BRCA相关乳腺癌与年龄因素的关系:日本HBOC财团数据库分析

BRCA1/2致病性变异在日本乳腺癌中的患病率尚不清楚。在这里,我们使用日本 HBOC 财团数据库分析了BRCA1/2致病性变异的患病率,特别关注年龄因素。根据日本 HBOC 财团数据库,所有登记的受试者都是在1996 年 1 月至 2017 年 7 月期间接受BRCA1/2基因检测的日本人。对每个评价项目进行案例提取和分析。在 2366 名先证者患者队列中,BRCA1BRCA2致病性变异的总体患病率分别为 11.2% 和 9.0%。BRCA1/2患者的乳腺癌发病年龄致病性变异显着低于没有BRCA1/2致病性变异的患者。在这两个BRCA1/2患者中,两个亚型组(ER 阳性与 TNBC)之间的发病年龄没有统计学显着差异。我们分析了没有乳腺癌或卵巢癌家族史的患者年龄组中BRCA1/2致病性变异的患病率。在 TNBC 组中,年轻患者的遗传变异率更高。我们的结果表明,早期乳腺癌发病与日本人群中的BRCA1/2致病性变异有关。年轻的 TNBC 患者更有可能患有BRCA1/2 无论是否有乳腺癌或卵巢癌的家族史,都属于致病性变异。

更新日期:2020-10-12
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