Cancer Research and Treatment

Original Articles

Rare cancer

Clinical Features of Li-Fraumeni Syndrome in Korea: Ran Song, Sun-Young Kong, Wonyoung Choi, Eun-Gyeong Lee, Jaeyeon Woo, Jai Hong Han, Seeyoun Lee, Han-Sung Kang, So-Youn Jung; Cancer Res Treat. 2024;56(1):334-341. Published online August 9, 2023; DOI: https://doi.org/10.4143/crt.2023.794

Abstract PDF Supplementary Material PubReader ePub

Purpose
Li-Fraumeni syndrome (LFS) is a hereditary disorder caused by germline mutation in TP53. Owing to the rarity of LFS, data on its clinical features are limited. This study aimed to evaluate the clinical characteristics and prognosis of Korean patients with LFS.
Materials and Methods
Patients who underwent genetic counseling and confirmed with germline TP53 mutation in the National Cancer Center in Korea between 2011 and 2022 were retrospectively reviewed. Data on family history with pedigree, types of mutation, clinical features, and prognosis were collected.
Results
Fourteen patients with LFS were included in this study. The median age at diagnosis of the first tumor was 32 years. Missense and nonsense mutations were observed in 13 and one patients, respectively. The repeated mutations were p.Arg273His, p.Ala138Val, and pPro190Leu. The sister with breast cancer harbored the same mutation of p.Ala138Val. Seven patients had multiple primary cancers. Breast cancer was most frequently observed, and other types of tumor included sarcoma, thyroid cancer, pancreatic cancer, brain tumor, adrenocortical carcinoma, ovarian cancer, endometrial cancer, colon cancer, vaginal cancer, skin cancer, and leukemia. The median follow-up period was 51.5 months. Two and four patients showed local recurrence and distant metastasis, respectively. Two patients died of leukemia and pancreatic cancer 3 and 23 months after diagnosis, respectively.
Conclusion
This study provides information on different characteristics of patients with LFS, including types of mutation, types of cancer, and prognostic outcomes. For more appropriate management of these patients, proper genetic screening and multidisciplinary discussion are required.

Citations

Citations to this article as recorded by

Consensus Statement: Recommendations on Actionable Biomarker Testing for Thyroid Cancer Management
Ozgur Mete, Andrée Boucher, Kasmintan A. Schrader, Omar Abdel-Rahman, Houda Bahig, Cheryl Ho, Olfat Kamel Hasan, Bernard Lemieux, Eric Winquist, Ralph Wong, Jonn Wu, Nicole Chau, Shereen Ezzat
Endocrine Pathology.2024; 35(4): 293. CrossRef

3,819 View
201 Download
1 Web of Science
1 Crossref

Breast cancer

Androgen Receptor as a Predictive Marker for Pathologic Complete Response in Hormone Receptor–Positive and HER-2–Negative Breast Cancer with Neoadjuvant Chemotherapy: Eun-Gyeong Lee, Dong-Eun Lee, Hyun hee Kim, Jai Hong Han, Seeyoun Lee, Han-Sung Kang, Eun Sook Lee, Heejung Chae, Sung Hoon Sim, Keun Seok Lee, Youngmee Kwon, So-Youn Jung; Cancer Res Treat. 2023;55(2):542-550. Published online September 8, 2022; DOI: https://doi.org/10.4143/crt.2022.834

Abstract PDF Supplementary Material PubReader ePub

Purpose
This study investigated pathological complete response (pCR) according to androgen receptor (AR) in breast cancer patients undergoing neoadjuvant chemotherapy and estimated the relationship between AR expression and clinicopathological factors.
Materials and Methods
We identified 624 breast cancer patients who underwent surgery after neoadjuvant chemotherapy at the National Cancer Center in Goyang, Korea from April 2016 to October 2019. We retrospectively collected the clinicopathologic information and AR expression results and analyzed the data according to cancer stage, hormonal receptor (HR) status, human epidermal growth factor receptor 2 (HER2) status, tumor subtype, and pCR.
Results
Among the 624 breast cancer patients, 529 (84.8%) were AR-positive (AR+) patients and 95 (15.2%) were AR-negative (AR–) patients. AR+ patients showed more estrogen receptor (ER) positivity, progesterone receptor (PR) positivity, HER2-positivity, and HR-positive and HER2-negative (HR+/HER2–) subtype. The rate of pCR was 31.4% (196/624). AR– patients had a significantly higher rate of pCR than AR+ patients (AR– 43.2% vs. AR+ 29.3%, p=0.007). The tumor factors associated with pCR were early stage, histologic grade 3, ER-negative, PR-negative, AR-negative, HER2-positive, and high Ki-67 values. In univariable analysis, AR+ significantly decreased the state of pCR (odds ratio, 0.546; 95% confidence interval, 0.349 to 0.853; p=0.008). According to tumor subtype, AR– tumor showed higher pCR rate in HR+/HER2– subtype (AR– 28.6% vs. AR+ 7.3%, p=0.022).
Conclusion
AR expression is predominant in the HR+/HER2– subtype. AR– is significantly associated with the pCR rate in breast cancer patients, especially within HR+/HER2– subtype. When determining neoadjuvant chemotherapy for the HR+/HER2– subtype, AR expression can be considered as a pCR predictive marker.

Citations

Citations to this article as recorded by

The prevalence and clinical significance of residual occult breast cancer after neoadjuvant chemotherapy: reassessing surgical pathology in cases initially described as pathological complete response
Di Ai, Eliel N Arrey, Lauren M Postlewait, Yuan Gao, Xiaoxian Li
Histopathology.2025;[Epub] CrossRef
Neo-adjuvant therapies for ER positive/HER2 negative breast cancers: from chemotherapy to hormonal therapy, CDK inhibitors, and beyond
Athina Stravodimou, Ioannis A. Voutsadakis
Expert Review of Anticancer Therapy.2024; 24(3-4): 117. CrossRef
Luminal androgen receptor subtype and tumor-infiltrating lymphocytes groups based on triple-negative breast cancer molecular subclassification
Miseon Lee, Tae-Kyung Yoo, Byung Joo Chae, Ahwon Lee, Yoon Jin Cha, Jieun Lee, Sung Gwe Ahn, Jun Kang
Scientific Reports.2024;[Epub] CrossRef
Evaluating the Clinico-Pathological Relationship Between Stromal Tumor-Infiltrating Lymphocytes and Androgen Receptor Expression Across Molecular Subtypes of Invasive Breast Carcinoma
Adil Aziz Khan, Sana Ahuja, Kiruthikasri G., Sufian Zaheer
Indian Journal of Surgical Oncology.2024; 15(4): 802. CrossRef
Biomarkers and translational research approaches in breast cancer—an update
Angelika M. Starzer, Anna S. Berghoff, Rupert Bartsch
memo - Magazine of European Medical Oncology.2023; 16(1): 42. CrossRef
Evaluation of predictive and prognostic value of androgen receptor expression in breast cancer subtypes treated with neoadjuvant chemotherapy
Zhendong Shi, Yingxue Liu, Shichao Zhang, Shuanglong Cai, Xu Liu, Jie Meng, Jin Zhang
Discover Oncology.2023;[Epub] CrossRef

5,432 View
177 Download
6 Web of Science
6 Crossref

Comparing the Characteristics and Outcomes of Male and Female Breast Cancer Patients in Korea: Korea Central Cancer Registry: Eun-Gyeong Lee, So-Youn Jung, Myong Cheol Lim, Jiwon Lim, Han-Sung Kang, Seeyoun Lee, Jai Hong Han, Heein Jo, Young-Joo Won, Eun Sook Lee; Cancer Res Treat. 2020;52(3):739-746. Published online February 13, 2020; DOI: https://doi.org/10.4143/crt.2019.639

Abstract PDF Supplementary Material PubReader ePub

Purpose
This study aimed to determine the incidence of male breast cancer (MBC) and its survival outcomes in Korea, and to compare these results to those for female breast cancer (FBC).
Materials and Methods
We searched the Korea Central Cancer Registry and identified 227,122 breast cancer cases that were diagnosed between 1999 and 2016. Demographic and clinical characteristics and overall survival (OS) rates were estimated according to sex, age, histological type, and cancer stage.
Results
The 227,122 patients included 1,094 MBC cases and 226,028 FBC cases. Based on the age-standardized rate, the male: female ratio was 0.0055:1. The most common ages at diagnosis were 60-69 years for MBC and 40-49 years for FBC (p < 0.001). Male patients were less likely than female patients to receive adjuvant radiotherapy (7.5% vs. 21.8%, p < 0.001) or adjuvant chemotherapy (40.1% vs. 55.4%, p < 0.001). The 5-year OS rates after diagnosis were 88.8% for all patients, although it was significantly lower for MBC than for FBC (76.2% vs. 88.9%, p < 0.001). In both groups, older age (≥ 60 years) was associated with shorter survival. The 5-year OS rates for the invasive histological types were 75.8% for men and 89.0% for women. The 5-year OS rates in both groups decreased with increasing cancer stage.
Conclusion
MBC was diagnosed at older ages than FBC, and male patients were less likely to receive radiotherapy and chemotherapy. The survival outcomes were worse for MBC than for FBC, with even poorer outcomes related to older age, the inflammatory histological types, and advanced stage. It is important that clinicians recognize the differences between FBC and MBC when treating these patients.

Citations

Citations to this article as recorded by

Therapeutic Management in Elderly Male Breast Cancer Patients: A Scoping Review
Alessia Di Rito, Antonietta Grillo, Roberta Carbonara
Current Oncology Reports.2025; 27(2): 120. CrossRef
HER2 expression and pathway status in male breast cancer patients: results of an integrated analysis among 6,150 patients
Boqiang Lyu, Shidi Zhao, Hui Wang, Shouping Gong, Biyuan Wang
Scientific Reports.2025;[Epub] CrossRef
Comparative Net Survival Analysis of Men and Women With Breast Cancer in Japan: A Population‐Based Study
Daisy Sibale Mojoo, Isao Oze, Hiroshi Tsuge, Yukari Taniyama, Yuriko N. Koyanagi, Sayaka Yamamoto, Megumi Hori, Kayo Nakata, Hiromi Sugiyama, Isao Miyashiro, Izumi Oki, Yoshikazu Nishino, Yuri Ito, Kota Katanoda, Akiko Shibata, Tomohiro Matsuda, Keitaro M
Cancer Science.2025;[Epub] CrossRef
Trends and Age-Period-Cohort Effect on Incidence of Male Breast Cancer from 1980 to 2019 in Taiwan and the USA
Jhao-Yang Peng, Yu-Kwang Lee, Rong-Qi Pham, Xiao-Han Shen, I-Hui Chen, Yong-Chen Chen, Hung-Shu Fan
Cancers.2024; 16(2): 444. CrossRef
The features of male breast cancer in China: A real-world study
Yuxuan Gao, Mengmeng Zhang, Gang Sun, Li Ma, Jianyun Nie, Zhongyu Yuan, Zhenzhen Liu, Yali Cao, Jianbin Li, Qiang Liu, Songqing Ye, Bo Chen, Yuhua Song, Kun Wang, Yu Ren, Guolin Ye, Ling Xu, Shu Liu, Qianjun Chen, Weiwen Li, Xinxin Chen, Peifen Fu, Wei We
The Breast.2024; 76: 103762. CrossRef
Clinicopathologic Features and Prognoses of Male Patients With Breast Cancer
Meiling Huang, Jingjing Xiao, Changjiao Yan, Rui Ling, Ting Wang
American Journal of Men's Health.2024;[Epub] CrossRef
Stage and Type of Male Breast Cancer Presented at Mankweng Academic Hospital from 2015-2023
Fumani Charles Makhandule, Mirza Mohamod Zahir Uddin Bhuiyan
European Journal of Medical and Health Sciences.2024; 6(6): 1. CrossRef
Impacts of Subtype on Clinical Feature and Outcome of Male Breast Cancer: Multicenter Study in Korea (KCSG BR16-09)
Jieun Lee, Keun Seok Lee, Sung Hoon Sim, Heejung Chae, Joohyuk Sohn, Gun Min Kim, Kyung-Hee Lee, Su Hwan Kang, Kyung Hae Jung, Jae-ho Jeong, Jae Ho Byun, Su-Jin Koh, Kyoung Eun Lee, Seungtaek Lim, Hee Jun Kim, Hye Sung Won, Hyung Soon Park, Guk Jin Lee, S
Cancer Research and Treatment.2023; 55(1): 123. CrossRef
Risk of Lymphedema and Death after Lymph Node Dissection with Neoadjuvant and Adjuvant Treatments in Patients with Breast Cancer: An Eight-Year Nationwide Cohort Study
Ye-Seul Lee, Yu-Cheol Lim, Jiyoon Yeo, Song-Yi Kim, Yoon Jae Lee, In-Hyuk Ha
Healthcare.2023; 11(13): 1833. CrossRef
Diagnostic performance of screening mammography according to menstrual cycle among Asian women
Mi-ri Kwon, Yoosoo Chang, Inyoung Youn, Shin Ho Kook, Yoosun Cho, Boyoung Park, Seungho Ryu
Breast Cancer Research and Treatment.2023; 202(2): 357. CrossRef
Clinicopathological features and correlation analysis of male breast cancer
Lei Xi, Jinxing Zhou, Yan Wu, Rong Rong
Medicine.2023; 102(30): e34408. CrossRef
Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients
Yunuo Zhang, Heming Wu, Zhikang Yu, Liang Li, Jinhong Zhang, Xinhong Liang, Qingyan Huang
BMC Cancer.2022;[Epub] CrossRef
Poor prognosis of male triple-positive breast Cancer patients: a propensity score matched SEER analysis and molecular portraits
Biyuan Wang, Hui Wang, Andi Zhao, Mi Zhang, Jin Yang
BMC Cancer.2021;[Epub] CrossRef
Prognostic difficulties of men with breast cancer
Ian S. Fentiman
The Breast Journal.2021; 27(12): 877. CrossRef
Clinicopathological features and prognosis of male breast cancer
Xinli Wang, Shusong Liu, Yan Xue
Journal of International Medical Research.2021;[Epub] CrossRef
Prognostic Factors in Male Breast Cancer: A Retrospective Nationwide Study in South Korea by the Study of SMARTSHIP Group
Sungmin Park, Ho Hur, Ji Sung Lee, JaeSun Yoon, Sung Mo Hur, Il Yong Chung, Jong Won Lee, Hyun Jo Youn, Se Jeong Oh, Cheol Wan Lim, Jihyoun Lee
Journal of Breast Cancer.2021; 24(6): 561. CrossRef
Male breast cancer: A closer look at patient and tumor characteristics and factors associated with survival
Jing Zhao, Bin Wang, Jing Zhao, Yiran Mao, Jun Liu, Yanfang Yang
Thoracic Cancer.2020; 11(11): 3107. CrossRef

8,090 View
207 Download
17 Web of Science
17 Crossref

Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers: Eun-Gyeong Lee, Hyok Jo Kang, Myong Cheol Lim, Boyoung Park, Soo Jin Park, So-Youn Jung, Seeyoun Lee, Han-Sung Kang, Sang-Yoon Park, Boram Park, Jungnam Joo, Jai Hong Han, Sun-Young Kong, Eun Sook Lee; Cancer Res Treat. 2019;51(1):280-288. Published online May 4, 2018; DOI: https://doi.org/10.4143/crt.2018.079

Abstract PDF PubReader ePub

Purpose
The purpose of this study was to investigate decision patterns to reduce the risks of BRCArelated breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and riskreducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers.
Materials and Methods
The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016.We analyzed patterns of and factors in RR management.
Results
Of the 992 patients, 220 (22.2%) were carriers of BRCA pathogenic variants. About 92.3% (203/220) had a family history of BC and/or OC,which significantly differed between BRCA1 and BRCA2 carriers (p < 0.001). All 41 male carriers chose surveillance. Of the 179 female carriers, 59 of the 83 carriers (71.1%) with BC and the 39 of 79 unaffected carriers (49.4%) underwent RR management. None of the carriers affected with OC underwent RR management. Of the management types, RRSO had the highest rate (42.5%) of patient choice. The rate of RR surgery was significantly higher after 2013 than before 2013 (46.3% [74/160] vs. 31.6% [6/19], p < 0.001).
Conclusion
RRSO was the preferred management for carriers of BRCA pathogenic variants. The most important factors in treatment choice were NHIS reimbursement and/or the severity of illness.

Citations

Citations to this article as recorded by

A Scoping Review of Primary Breast Cancer Risk Reduction Strategies in East and Southeast Asia
Filipa Alpeza, Christine Kim Yan Loo, Qingyuan Zhuang, Mikael Hartman, Serene Si Ning Goh, Jingmei Li
Cancers.2025; 17(2): 168. CrossRef
Risk-reducing decisions regarding germlineBRCApathogenic variant: focusing on the timing of genetic testing and RRSO
Akiko Abe, Hidetaka Nomura, Atsushi Fusegi, Mayu Yunokawa, Arisa Ueki, Eri Habano, Hiromi Arakawa, Keika Kaneko, Yuko Minoura, Hitoshi Inari, Takayuki Ueno, Hiroyuki Kanao
Journal of Medical Genetics.2024; 61(4): 392. CrossRef
BRCA Mutation Patients: Are There Other Predisposing Factors for Ovarian Cancer Occurrence? A Multicenter Retrospective Study
Vera Loizzi, Michele Mongelli, Francesca Arezzo, Isabella Romagno, Gerardo Cazzato, Ondina Popescu, Francesco Legge, Paolo Trerotoli, Erica Silvestris, Anila Kardhashi, Gennaro Cormio
Gynecologic and Obstetric Investigation.2024; 89(2): 87. CrossRef
Implementation of BRCA Test among Young Breast Cancer Patients in South Korea: A Nationwide Cohort Study
Yung-Huyn Hwang, Tae-Kyung Yoo, Sae Byul Lee, Jisun Kim, Beom Seok Ko, Hee Jeong Kim, Jong Won Lee, Byung Ho Son, Il Yong Chung
Cancer Research and Treatment.2024; 56(3): 802. CrossRef
Pattern Anlysis of Risk-Reducing Strategies in Unaffected Korean BRCA1/2 Mutation Carriers
Dabin Kim, Jai Min Ryu, Sang-Ah Han, Zisun Kim, Sung-Won Kim
Current Oncology.2024; 31(11): 6767. CrossRef
Impact of graphical display on the intention to undergo risk-reducing salpingo-oophorectomy and mastectomy in individuals positive for BRCA pathogenic variant
Yoon-Jung Choi, Younju Park, Boyoung Park, Heejung Chae, So-Youn Jung, Kum Hei Ryu, Myong Cheol Lim, Soo Jin Park, Yoon Jung Chang, Sun-Young Kong
Scientific Reports.2024;[Epub] CrossRef
Impact of the coverage of risk-reducing salpingo-oophorectomy by the national insurance system for women with BRCA pathogenic variants in Japan
Hidetaka Nomura, Akiko Abe, Atsushi Fusegi, Teruyuki Yoshimitsu, Satoki Misaka, Atsushi Murakami, Tsuyoshi Matsumoto, Shiho Tsumura, Motoko Kanno, Yoichi Aoki, Sachiho Netsu, Makiko Omi, Terumi Tanigawa, Sanshiro Okamoto, Kohei Omatsu, Mayu Yunokawa, Hiro
Scientific Reports.2023;[Epub] CrossRef
Characteristics of second primary breast cancer after ovarian cancer: a Korea central cancer registry retrospective study
Eun-Gyeong Lee, Jiwon Lim, Hyeong In Ha, Myong Cheol Lim, Yoon Jung Chang, Young-Joo Won, So-Youn Jung
Frontiers in Oncology.2023;[Epub] CrossRef
Differences in Willingness to Undergo BRCA1/2 Testing and Risk Reducing Surgery among the General Public, Cancer Patients, and Healthcare Professionals: A Large Population-Based Survey
Yoon Jung Chang, Seungyeon Cho, Jungnam Joo, Kum Hei Ryu, Sangwon Lee, Juhee Cho, Myong Cheol Lim, So-Youn Jung, Jai Hong Han, Eun Sook Lee, Sun-Young Kong
Journal of Personalized Medicine.2022; 12(5): 818. CrossRef
Management of patients with BRCA mutation from the point of view of a breast surgeon
M.L. Riis
Annals of Medicine and Surgery.2021; 65: 102311. CrossRef
Disparities between Uptake of Germline BRCA1/2 Gene Tests and Implementation of Post-test Management Strategies in Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Patients
Young Min Hur, Jaehee Mun, Mi-Kyung Kim, Maria Lee, Yun Hwan Kim, Seung-Cheol Kim
Journal of Korean Medical Science.2021;[Epub] CrossRef
Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature)
D. I. Vodolazhsky, A. V. Mayakovskaya, A. V. Kubyshkin, K. A. Aliev, I. I. Fomochkina
Russian Clinical Laboratory Diagnostics.2021; 66(12): 760. CrossRef
Trends in Risk-Reducing Mastectomy and Risk-Reducing Salpingo-Oophorectomy in Korean Carriers of the BRCA1/2 Mutation
Sung Mi Jung, Jai Min Ryu, Hyung Seok Park, Ji Soo Park, Eunyoung Kang, Seeyoun Lee, Han-Byoel Lee, Hyun Jo Youn, Tae-Kyung Yoo, Jisun Kim, Jeong Eon Lee, Sang Ah Han, Dongwon Kim, Sung-Won Kim
Journal of Breast Cancer.2020; 23(6): 647. CrossRef

11,027 View
231 Download
15 Web of Science
13 Crossref

First
Prev
Page of 1
Next
Last

Search