Cancer Research and Treatment

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients

Nihat B. Agaoglu, Busra Unal, Connor P. Hayes, McKenzie Walker, Ozden Hatirnaz Ng, Levent Doganay, Nisan D. Can, Huma Q. Rana, Arezou A. Ghazani

Variant reclassification and clinical implications

Nicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne

Journal of Medical Genetics.2024; : jmg-2023-109488. CrossRef

Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations

Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee, Seock-Ah Im

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss

Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan

The impact of race and ethnicity in breast cancer—disparities and implications for precision oncology

Kelly A. Hirko, Gabrielle Rocque, Erica Reasor, Ammanuel Taye, Alex Daly, Ramsey I. Cutress, Ellen R. Copson, Dae-Won Lee, Kyung-Hun Lee, Seock-Ah Im, Yeon Hee Park

Molecular Characterization of BRCA1 c.5339T>C Missense Mutation in DNA Damage Response of Triple-Negative Breast Cancer

Jeong Dong Lee, Won-Ji Ryu, Hyun Ju Han, Tae Yeong Kim, Min Hwan Kim, Joohyuk Sohn

Discovery of BRCA1/BRCA2 founder variants by haplotype analysis

Won Kyung Kwon, Hyeok-Jae Jang, Jeong Eon Lee, Yeon Hee Park, Jai Min Ryu, Jonghan Yu, Ja-Hyun Jang, Jong-Won Kim

Cancer Genetics.2022; 266-267: 19. CrossRef

Hereditary variants of unknown significance in African American women with breast cancer

J. Tyson McDonald, Luisel J. Ricks-Santi, Alvaro Galli

PLOS ONE.2022; 17(10): e0273835. CrossRef

Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer

Qiting Wan, Li Hu, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin, Ye Xu, Yuntao Xie

Familial Cancer.2021; 20(2): 85. CrossRef

Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study

Joo Heung Kim, Sunggyun Park, Hyung Seok Park, Ji Soo Park, Seung-Tae Lee, Sung-Won Kim, Jong Won Lee, Min Hyuk Lee, Sue K. Park, Woo-Chul Noh, Doo Ho Choi, Wonshik Han, Sung Hoo Jung

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study

Kyung-Sun Park, Woochang Lee, Moon-Woo Seong, Sun-Young Kong, Kyung-A Lee, Jung-Sook Ha, Eun-Hae Cho, Sung-Hee Han, Inho Park, Jong-Won Kim

Patient perspectives on variant reclassification after cancer susceptibility testing

Colin M. E. Halverson, Laurie M. Connors, Bronson C. Wessinger, Ellen W. Clayton, Georgia L. Wiesner

Molecular Genetics & Genomic Medicine.2020;[Epub] CrossRef

Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population

Dan Li, Yujian Shi, Ang Li, Dandan Cao, Huijun Su, Haiqi Yang, Qihuan Zhi, Yuchen Yang, Zhaoji Lan, Tianliangwen Zhou, Xiaobin You, Guifang Hu

Breast Cancer.2020; 27(6): 1158. CrossRef

Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant

Hyung Seok Park, Jai Min Ryu, Ji Soo Park, Seock-Ah Im, So-Youn Jung, Eun-Kyu Kim, Woo-Chan Park, Jun Won Min, Jeeyeon Lee, Ji Young You, Jeong Eon Lee, Sung-Won Kim

Cancer Research and Treatment.2020; 52(3): 680. CrossRef

Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers

Hyeong In Ha, Jin-Sun Ryu, Hyoeun Shim, Sun-Young Kong, Myong Cheol Lim

Journal of Gynecologic Oncology.2020;[Epub] CrossRef

Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea

Jai Min Ryu, Hee Jun Choi, Isaac Kim, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Se Kyung Lee, Doo Ho Choi, Yeon Hee Park, Jong-Won Kim, Jeong-sun Seo, Jung-Hoon Park, Jeong Eon Lee, Sung-Won Kim

Breast Cancer Research and Treatment.2019; 173(2): 385. CrossRef

Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines

Min-Kyung So, Tae-Dong Jeong, Woosung Lim, Byung-In Moon, Nam Sun Paik, Seung Cheol Kim, Jungwon Huh

Breast Cancer.2019; 26(4): 510. CrossRef

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Annals of Laboratory Medicine.2019; 39(5): 421. CrossRef

Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer

Se Ik Kim, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song

Journal of Ovarian Research.2019;[Epub] CrossRef

Clinical significance of variants of unknown significances in BRCA genes

Journal of Gynecologic Oncology.2019;[Epub] CrossRef

Establishment of chemosensitivity tests in triple-negative and BRCA-mutated breast cancer patient-derived xenograft models

Hyung Seok Park, Jeong Dong Lee, Jee Ye Kim, Seho Park, Joo Heung Kim, Hyun Ju Han, Yeon A. Choi, Ae Ran Choi, Joo Hyuk Sohn, Seung Il Kim, Harriet Wikman

PLOS ONE.2019; 14(12): e0225082. CrossRef

Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers

Ji Soo Park, Seung-Tae Lee, Jung Woo Han, Tae Il Kim, Eun Ji Nam, Hyung Seok Park

Clinical Breast Cancer.2018; 18(5): 362. CrossRef

Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

Kyungju Lee, Ja-Hyun Jang, Seung-Tae Lee, Kyong-Ah Yoon, Eun Sook Lee, Jong-Won Kim, Sun-Young Kong

Laboratory Medicine Online.2018; 8(3): 107. CrossRef

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing

Li Dong, Nan Wu, Shaojing Wang, Yanan Cheng, Lei Han, Jing Zhao, Xinxin Long, Kun Mu, Menghui Li, Lijuan Wei, Wanheng Wang, Weijia Zhang, Yandong Cao, Juntian Liu, Jinpu Yu, Xishan Hao

Human Mutation.2018; 39(10): 1442. CrossRef

Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort

Jee-Soo Lee, Sohee Oh, Sue Kyung Park, Min-Hyuk Lee, Jong Won Lee, Sung-Won Kim, Byung Ho Son, Dong-Young Noh, Jeong Eon Lee, Hai-Lin Park, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong

Journal of Medical Genetics.2018; 55(12): 794. CrossRef

Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from ‘unknown significance’ to ‘Likely pathogenic’ based on clinical evidence in Korea

Jai Min Ryu, Goeun Kang, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Se Kyung Lee, Soo Youn Bae, Sungmin Park, Hyun-June Paik, Jong-Won Kim, Sung-Shin Park, Jeong Eon Lee, Sung-Won Kim