Breast cancer (Tokyo, Japan)最新文献

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Bridging across the pacific: overview of the 33rd annual meeting of the Japanese breast cancer society. 跨越太平洋的桥梁:日本乳腺癌协会第33届年会综述。
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2025-12-29 DOI: 10.1007/s12282-025-01811-6
Hiroki Kusama, Yoshiya Horimoto, Kayo Adachi, Yoichi Koyama, Kyoko Orimoto, Takahiko Kawate, Fuyo Kimura, Takako Komiya, Hiroshi Kaise, Kimito Yamada, Tatsunori Shimoi, Goro Kutomi, Kazuaki Takabe, Takashi Ishikawa
{"title":"Bridging across the pacific: overview of the 33rd annual meeting of the Japanese breast cancer society.","authors":"Hiroki Kusama, Yoshiya Horimoto, Kayo Adachi, Yoichi Koyama, Kyoko Orimoto, Takahiko Kawate, Fuyo Kimura, Takako Komiya, Hiroshi Kaise, Kimito Yamada, Tatsunori Shimoi, Goro Kutomi, Kazuaki Takabe, Takashi Ishikawa","doi":"10.1007/s12282-025-01811-6","DOIUrl":"10.1007/s12282-025-01811-6","url":null,"abstract":"<p><p>This article summarizes key discussions from the 33rd Annual Meeting of the Japanese Breast Cancer Society, which examined differences and shared challenges in breast cancer care between Asian and Western countries across the Pacific. Surgical methods and radiation practices varied by country, most likely due to body habitus and clinical settings. Cylinder-shaped resection and conventional boost irradiation remain common in Japan, while seed-guided partial mastectomy and short-course irradiation regimens are widely used in the United States (US). Despite these differences, it was reported that both regions achieved excellent local control, and the need for clearer standards in pathological margin evaluation was noted. For premenopausal hormone receptor-positive breast cancer, ovarian function suppression (OFS) was more frequently used in Asia, whereas poor adherence to endocrine therapy was identified as a major issue in the US. Genomic testing is expected to guide future treatment selection. The prepectoral direct-to-implant technique using acellular dermal matrices (ADM) has become routine in the US and South Korea, but its use remains limited in Japan and Taiwan because of insurance and regulatory restrictions. Dense breasts were discussed as a common issue. Risk-stratified screening and AI-assisted reading are expanding, although approaches differ across regions. Advance care planning (ACP) was noted to reflect cultural values-family-centered \"relational autonomy\" in Asia and individual decision-making in Western countries. The credibility of online health information and differences in health literacy were identified as important concerns. Initiatives to improve the accuracy and evaluation of patient information are now progressing. The meeting highlighted the importance of adapting clinical evidence to regional contexts and strengthening international collaboration.</p>","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"315-323"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145852042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluating high-risk breast cancer surveillance outcomes in BRCA mutation carriers. 评估BRCA突变携带者的高危乳腺癌监测结果。
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2026-02-03 DOI: 10.1007/s12282-026-01822-x
Yuk-Kwan Chang, Wing-Pan Luk, Ling-Hiu Fung, Ava Kwong
{"title":"Evaluating high-risk breast cancer surveillance outcomes in BRCA mutation carriers.","authors":"Yuk-Kwan Chang, Wing-Pan Luk, Ling-Hiu Fung, Ava Kwong","doi":"10.1007/s12282-026-01822-x","DOIUrl":"10.1007/s12282-026-01822-x","url":null,"abstract":"","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"407-414"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12960395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146115405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Real-world outcomes of palbociclib plus endocrine therapy in elderly patients with HR+/HER2- advanced breast cancer in Japan: a subgroup analysis of the P-BRIDGE study by age group. 帕博西尼联合内分泌治疗在日本老年HR+/HER2晚期乳腺癌患者中的实际结果:P-BRIDGE研究按年龄组的亚组分析
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2026-02-11 DOI: 10.1007/s12282-025-01812-5
Hiroko Masuda, Shigenori E Nagai, Masaya Hattori, Tetsuhiro Yoshinami, Takuho Okamura, Kenichi Watanabe, Takahiro Nakayama, Michiko Tsuneizumi, Daisuke Takabatake, Michiko Harao, Hiroshi Yoshino, Natsuko Mori, Hiroyuki Yasojima, Chiya Oshiro, Madoka Iwase, Miki Yamaguchi, Takafumi Sangai, Shinsuke Sasada, Takanori Ishida, Manabu Futamura, Hirotaka Oda, Yasuaki Muramatsu, Norikazu Masuda
{"title":"Real-world outcomes of palbociclib plus endocrine therapy in elderly patients with HR+/HER2- advanced breast cancer in Japan: a subgroup analysis of the P-BRIDGE study by age group.","authors":"Hiroko Masuda, Shigenori E Nagai, Masaya Hattori, Tetsuhiro Yoshinami, Takuho Okamura, Kenichi Watanabe, Takahiro Nakayama, Michiko Tsuneizumi, Daisuke Takabatake, Michiko Harao, Hiroshi Yoshino, Natsuko Mori, Hiroyuki Yasojima, Chiya Oshiro, Madoka Iwase, Miki Yamaguchi, Takafumi Sangai, Shinsuke Sasada, Takanori Ishida, Manabu Futamura, Hirotaka Oda, Yasuaki Muramatsu, Norikazu Masuda","doi":"10.1007/s12282-025-01812-5","DOIUrl":"10.1007/s12282-025-01812-5","url":null,"abstract":"","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"333-345"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12960296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146159987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy and prognostic predictors of primary systemic therapy for de novo Stage IV breast cancer. Exploratory analysis of JCOG1017 PRIM-BC. 原发性全身治疗对新发IV期乳腺癌的疗效和预后预测因素。JCOG1017 PRIM-BC的探索性分析。
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2026-01-31 DOI: 10.1007/s12282-025-01821-4
Tadahiko Shien, Makoto Ishitobi, Keita Sasaki, Kiyo Tanaka, Akihiko Shimomura, Takahiro Tsukioki, Yasuaki Sagara, Yuri Kimura, Kaori Terata, Takayuki Ishiba, Hiroyuki Yasojima, Makiko Ono, Kyoko Goda, Yoichi Naito, Tomomi Fujisawa, Fumikata Hara, Gakuto Ogawa, Haruhiko Fukuda, Hiroji Iwata
{"title":"Efficacy and prognostic predictors of primary systemic therapy for de novo Stage IV breast cancer. Exploratory analysis of JCOG1017 PRIM-BC.","authors":"Tadahiko Shien, Makoto Ishitobi, Keita Sasaki, Kiyo Tanaka, Akihiko Shimomura, Takahiro Tsukioki, Yasuaki Sagara, Yuri Kimura, Kaori Terata, Takayuki Ishiba, Hiroyuki Yasojima, Makiko Ono, Kyoko Goda, Yoichi Naito, Tomomi Fujisawa, Fumikata Hara, Gakuto Ogawa, Haruhiko Fukuda, Hiroji Iwata","doi":"10.1007/s12282-025-01821-4","DOIUrl":"10.1007/s12282-025-01821-4","url":null,"abstract":"","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"396-406"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12960300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146095361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FGFR4 and HER2 co-expression is associated with the proinflammatory tumor microenvironment in HR + breast cancer. 在HR +乳腺癌中,FGFR4和HER2共表达与促炎性肿瘤微环境相关。
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2026-02-11 DOI: 10.1007/s12282-026-01833-8
Yike Gao, Longyun Chen, Fei Yao, Jin Wang, Changbin Zhu, Shafei Wu, Zhiyong Liang
{"title":"FGFR4 and HER2 co-expression is associated with the proinflammatory tumor microenvironment in HR + breast cancer.","authors":"Yike Gao, Longyun Chen, Fei Yao, Jin Wang, Changbin Zhu, Shafei Wu, Zhiyong Liang","doi":"10.1007/s12282-026-01833-8","DOIUrl":"10.1007/s12282-026-01833-8","url":null,"abstract":"<p><strong>Background: </strong>Dysregulated FGFR4 signaling has been associated with aggressive subtypes of breast cancers, characterized by HER2 enrichment or endocrine resistance. However, the biological functions of FGFR4 across breast cancer subtypes remain unclear. This study investigated the molecular characteristics of FGFR4-high tumors to inform potential therapeutic strategies.</p><p><strong>Methods: </strong>This study analyzed clinicopathological characteristics and gene expression profile of 53 hormone receptor-positive (HR<sup>+</sup>) and 41 HR-negative (HR<sup>-</sup>) patients using the AmoyDx Master Panel. The results were validated using The Cancer Genome Atlas (TCGA) and single-cell RNA-seq datasets.</p><p><strong>Results: </strong>The patients in the PUMCH cohort (n = 94) were stratified by HER2 and HR statuses and further stratified according to FGFR4 expression. FGFR4-high tumors showed no genomic differences but enriched immune activation pathways, specifically in HR<sup>+</sup>HER2-low/positive subgroups. HR<sup>+</sup> tumors with co-expression of FGFR4 and HER2 exhibited increased immune infiltration (T cells, NK cells, M1 macrophages) and upregulated checkpoints (BTLA, CTLA4, HAVCR2, LAG3). Single-cell data confirmed elevated T-cell abundance in HR<sup>+</sup>HER2-high FGFR4-high cases. TCGA analysis linked high FGFR4 to prolonged disease-free survival (DFS) in HR<sup>+</sup>HER2-positive patients but reduced DFS in HR<sup>+</sup>HER2-zero patients.</p><p><strong>Conclusions: </strong>Co-expression of FGFR4 and HER2 is associated with a proinflammatory tumor microenvironment in HR<sup>+</sup> breast cancer, suggesting immunotherapy potential. Further studies should explore therapeutic strategies to reshape the tumor immune microenvironment.</p>","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"485-498"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146159957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Postoperative course and safety profile of the suture scaffold technique in breast-conserving surgery: a single-institution observational study. 保乳手术中缝合支架技术的术后过程和安全性:一项单机构观察性研究。
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2025-12-29 DOI: 10.1007/s12282-025-01813-4
Reiko Mitsueda, Yasuyo Ohi, Yukari Mochitomi, Rie Takaki, Megumi Furukawa, Akiko Arimura, Yoshitaka Fujiki, Naomi Gondo, Junko Kawano, Shuichi Kanemitsu, Megumi Teraoka, Yoshiaki Rai, Sakurako Yanase, Hayahito Sakai, Sugako Nomoto, Yoshiaki Sagara, Shinji Ohno, Yasuaki Sagara
{"title":"Postoperative course and safety profile of the suture scaffold technique in breast-conserving surgery: a single-institution observational study.","authors":"Reiko Mitsueda, Yasuyo Ohi, Yukari Mochitomi, Rie Takaki, Megumi Furukawa, Akiko Arimura, Yoshitaka Fujiki, Naomi Gondo, Junko Kawano, Shuichi Kanemitsu, Megumi Teraoka, Yoshiaki Rai, Sakurako Yanase, Hayahito Sakai, Sugako Nomoto, Yoshiaki Sagara, Shinji Ohno, Yasuaki Sagara","doi":"10.1007/s12282-025-01813-4","DOIUrl":"10.1007/s12282-025-01813-4","url":null,"abstract":"","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"359-367"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145852050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic relevance of specific TIL (CD4+, CD8+, and FOXP3 + T-cell infiltrates) in triple-negative breast cancer: short- and long-term outcomes. 特异性TIL (CD4+、CD8+和FOXP3 + t细胞浸润)在三阴性乳腺癌中的预后相关性:短期和长期结果
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2026-01-07 DOI: 10.1007/s12282-025-01819-y
Olga Caramelo, Vânia Almeida, Ana Fidalgo, Augusta Cipriano, Teresa Almeida-Santos
{"title":"Prognostic relevance of specific TIL (CD4+, CD8+, and FOXP3 + T-cell infiltrates) in triple-negative breast cancer: short- and long-term outcomes.","authors":"Olga Caramelo, Vânia Almeida, Ana Fidalgo, Augusta Cipriano, Teresa Almeida-Santos","doi":"10.1007/s12282-025-01819-y","DOIUrl":"10.1007/s12282-025-01819-y","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is a heterogeneous malignant disease that remains as one of the most prevalent cancers globally. Triple negative breast cancer (TNBC) accounts for 15% of the total of breast cancers and presents high tumor immunogenicity and a tumor microenvironment that plays a critical role in disease progression and patient outcomes.</p><p><strong>Methods: </strong>This study evaluated a total of 30 tissue samples from female patients with TNBC, to characterize specific immune cells within the tumor tissue and investigate their relationship with short (pathological complete response, pCR), long (disease-free survival, DFS) and clinical outcomes. Tumor-infiltrating lymphocytes (TIL) were assessed by immunohistochemistry (IHC) on tissue microarrays (TMA), complemented by digital analysis for standardized quantification.</p><p><strong>Results: </strong>Our results highlight the influence of CD4⁺ T cells on short-term outcomes: high CD4⁺ T-cell levels were significantly associated with achieving pCR. High CD8⁺ T-cell levels were also significantly associated with axillary lymph node negativity.Regarding long-term outcomes, higher CD4⁺, CD8⁺ and FOXP3⁺ T-cell levels showed a non-significant tendency toward improved DFS.</p><p><strong>Conclusions: </strong>These findings suggest that high levels of CD4 + T cells and CD8 + T cells are positive predictors of immediate, long-term prognosis and clinical prognosis in patients with TNBC. This study enhances the understanding on the immunological interests in specific subtypes of TIL and identifies potential biomarkers that could drive advancements in precision medicine for breast cancer management.</p>","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"386-395"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12960379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145914596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-term outcomes of adjuvant radiation in elderly Asians with early stage IIA breast cancer after breast-conserving surgery: a population-based study. 亚洲老年早期IIA期乳腺癌保乳手术后辅助放疗的长期疗效:一项基于人群的研究
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2025-12-22 DOI: 10.1007/s12282-025-01810-7
Shih-Min Lin, Hsiu-Ying Ku, Jun-Ping Shiau, Fang-Ming Chen, Ming-Feng Hou, Che-Yu Hsu, Tsang-Wu Liu, Hui-Ju Ch'ang
{"title":"Long-term outcomes of adjuvant radiation in elderly Asians with early stage IIA breast cancer after breast-conserving surgery: a population-based study.","authors":"Shih-Min Lin, Hsiu-Ying Ku, Jun-Ping Shiau, Fang-Ming Chen, Ming-Feng Hou, Che-Yu Hsu, Tsang-Wu Liu, Hui-Ju Ch'ang","doi":"10.1007/s12282-025-01810-7","DOIUrl":"10.1007/s12282-025-01810-7","url":null,"abstract":"","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"368-376"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12960298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145807267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Presenteeism in working-age breast cancer survivors 1-5 years after surgery: relative contributions of treatment-related symptoms and modifiable factors. 手术后1-5年工作年龄乳腺癌幸存者的出勤率:治疗相关症状和可改变因素的相对贡献
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-03-01 Epub Date: 2026-02-09 DOI: 10.1007/s12282-026-01835-6
Masahiro Manfuku, Ryota Imai, Satoko Yono, Hiroe Kanamori, Kazuhiro Sumiyoshi
{"title":"Presenteeism in working-age breast cancer survivors 1-5 years after surgery: relative contributions of treatment-related symptoms and modifiable factors.","authors":"Masahiro Manfuku, Ryota Imai, Satoko Yono, Hiroe Kanamori, Kazuhiro Sumiyoshi","doi":"10.1007/s12282-026-01835-6","DOIUrl":"10.1007/s12282-026-01835-6","url":null,"abstract":"<p><strong>Background: </strong>Presenteeism among working-age breast cancer survivors drives job loss and economic burden, but the extent to which it is attributable to treatment-related symptoms remains unclear. We examined determinants of presenteeism severity 1-5 years after surgery and preferences for support.</p><p><strong>Methods: </strong>In this cross-sectional study, presenteeism was assessed with the Work Productivity and Activity Impairment questionnaire in 203 employed survivors (< 65 years) 1-5 years post-surgery. Presenteeism was modeled using hierarchical multiple linear regression with four blocks: (1) patient characteristics/treatment exposures; (2) work-related factors; (3) psychological symptoms and health literacy; and (4) physical function and cancer treatment-related symptoms. A modifiable-only sensitivity model with prespecified clinical cutoffs was also estimated.</p><p><strong>Results: </strong>Presenteeism was present in 55.7% and severe in 27.1%. Model fit improved stepwise, with the largest incremental variance at Step 4. In the final model, higher presenteeism was independently associated with aromatase inhibitor-induced musculoskeletal symptoms, postmastectomy pain syndrome, greater cancer-related fatigue, reduced shoulder range of motion, and non-desk-based work (all p < 0.05). Over 70% preferred physiotherapy or pharmacotherapy.</p><p><strong>Conclusion: </strong>Presenteeism in working-age survivors of breast cancer was strongly associated with modifiable treatment-related symptoms. Based on our findings, multidisciplinary, patient-centered interventions are recommended to support job retention and reintegration.</p>","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"510-522"},"PeriodicalIF":2.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146145885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases. 基于群体基因组数据库的东亚人和韩国人种系CHEK2变异的患病率
IF 2.9
Breast cancer (Tokyo, Japan) Pub Date : 2026-01-01 Epub Date: 2025-09-16 DOI: 10.1007/s12282-025-01774-8
Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Jung-Sook Ha, Do Hoon Kim, Kyoung-Bo Kim, Chang-Seok Ki, Sun-Young Kong
{"title":"Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.","authors":"Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Jung-Sook Ha, Do Hoon Kim, Kyoung-Bo Kim, Chang-Seok Ki, Sun-Young Kong","doi":"10.1007/s12282-025-01774-8","DOIUrl":"10.1007/s12282-025-01774-8","url":null,"abstract":"<p><p>Checkpoint kinase 2 (CHEK2) encodes a serine/threonine kinase involved in the DNA damage response through ATM-Chk2-p53 signaling. Its function in maintaining genomic stability classifies it as a tumor suppressor. Heterozygous germline pathogenic variants in CHEK2 are associated with a moderate increase in lifetime risk of breast and prostate cancer. This study assessed the prevalence of CHEK2 variants globally, with a focus on East Asian and Korean populations, for which data have remained limited. We analyzed 125,748 exomes from the Genome Aggregation Database (gnomAD), including 9,197 East Asians, along with additional data from 5,305 individuals in the Korean Variant Archive, 3,617 in Korea4K, and 1,722 in the Korean Reference Genome Database. All CHEK2 variants were classified according to guidelines established by the American College of Medical Genetics, Genomics, and Clinical Genome Resources. The global prevalence of CHEK2 variants was 0.76%, with the highest observed in the Finnish population (2.04%) and the lowest in East Asians (0.11%). By integrating data from Korean genomic databases and gnomAD, representing a total of 12,553 Korean individuals, the overall prevalence in the Korean population was estimated at 0.13%. These findings represent the first integrated estimate of CHEK2 variant frequency in Koreans using multiple population-specific genomic datasets. The results provide a useful reference for future studies and highlight the need for region-specific genetic research to inform counseling and hereditary cancer risk management.</p>","PeriodicalId":520574,"journal":{"name":"Breast cancer (Tokyo, Japan)","volume":" ","pages":"80-87"},"PeriodicalIF":2.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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