Cancer Research and Treatment

Original Articles

Breast cancer

Efficacy of Limited Dose Modifications for Palbociclib-Related Grade 3 Neutropenia in Hormone Receptor–Positive Metastatic Breast Cancer: Seul-Gi Kim, Min Hwan Kim, Sejung Park, Gun Min Kim, Jee Hung Kim, Jee Ye Kim, Hyung Seok Park, Seho Park, Byeong Woo Park, Seung Il Kim, Jung Hwan Ji, Joon Jeong, Kabsoo Shin, Jieun Lee, Hyung-Don Kim, Kyung Hae Jung, Joohyuk Sohn; Cancer Res Treat. 2023;55(4):1198-1209. Published online April 11, 2023; DOI: https://doi.org/10.4143/crt.2022.1543

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Purpose
Frequent neutropenia hinders uninterrupted palbociclib treatment in patients with hormone receptor (HR)–positive breast cancer. We compared the efficacy outcomes in multicenter cohorts of patients with metastatic breast cancer (mBC) receiving palbociclib following conventional dose modification or limited modified schemes for afebrile grade 3 neutropenia.
Materials and Methods
Patients with HR-positive, human epidermal growth factor receptor 2–negative mBC (n=434) receiving palbociclib with letrozole as first-line therapy were analyzed and classified based on neutropenia grade and afebrile grade 3 neutropenia management as follows: group 1 (maintained palbociclib dose, limited scheme), group 2 (dose delay or reduction, conventional scheme), group 3 (no afebrile grade 3 neutropenia event), and group 4 (grade 4 neutropenia event). The primary and secondary endpoints were progression-free survival (PFS) between groups 1 and 2 and PFS, overall survival, and safety profiles among all groups.
Results
During follow-up (median 23.7 months), group 1 (2-year PFS, 67.9%) showed significantly longer PFS than did group 2 (2-year PFS, 55.3%; p=0.036), maintained across all subgroups, and upon adjustment of the factors. Febrile neutropenia occurred in one and two patients of group 1 and group 2, respectively, without mortality.
Conclusion
Limited dose modification for palbociclib-related grade 3 neutropenia may lead to longer PFS, without increasing toxicity, than the conventional dose scheme.

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Efficacy and Safety of Cyclin-Dependent Kinase 4/6 Inhibitors in Patients with Breast Cancer: A Systematic Review and Meta-analysis of Randomized Controlled Trials and Real-World Studies
Hui-Chen Su, Ho-Wei Lin, Ka-Wai Tam
Targeted Oncology.2025; 20(1): 71. CrossRef
Palbociclib Is Safe for Breast Cancer Patients With Mild Hepatic Impairment: A Multicenter Retrospective Study Using Real‐World Data
Alieke K. Bos, Annelieke E.C.A.B. Willemsen, Loes E. Visser, Lennart J. Stoker, Jurjen S. Kingma, Mirjam K. Rommers, Emile M. Kuck, Paul D. van der Linden, Merel van Nuland
Clinical Pharmacology & Therapeutics.2025; 117(4): 1115. CrossRef
Real-world effectiveness of CDK4/6i in first-line treatment of HR+/HER2− advanced/metastatic breast cancer: updated systematic review
Nadia Harbeck, Adam Brufsky, Chloe Grace Rose, Beata Korytowsky, Connie Chen, Krista Tantakoun, Endri Jazexhi, Do Hoang Vien Nguyen, Meaghan Bartlett, Imtiaz A. Samjoo, Timothy Pluard
Frontiers in Oncology.2025;[Epub] CrossRef
Palbociclib

Reactions Weekly.2023; 1988(1): 138. CrossRef

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Lobular Carcinoma In Situ during Preoperative Biopsy and the Rate of Upgrade: Jeea Lee, Ga Yoon Ku, Haemin Lee, Hyung Seok Park, Ja Seung Ku, Jee Ye Kim, Seho Park, Byeong-Woo Park; Cancer Res Treat. 2022;54(4):1074-1080. Published online December 21, 2021; DOI: https://doi.org/10.4143/crt.2021.864

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Purpose
There is a potential risk that lobular carcinoma in situ (LCIS) on preoperative biopsy might be diagnosed as ductal carcinoma in situ (DCIS) or invasive carcinoma in the final pathology. This study aimed to evaluate the rate of upgrade of LCIS on preoperative biopsy to DCIS or invasive carcinoma.
Materials and Methods
Data of 55 patients with LCIS on preoperative biopsy were analyzed. All patients underwent surgery between 1991 and 2016 at Severance Hospital in Seoul, Korea. We analyzed the rate of upgrade of preoperative LCIS to DCIS or invasive cancer in the final pathology. The clinicopathologic features related to the upgrade were evaluated.
Results
The rate of upgrade of LCIS to DCIS or invasive carcinoma was 16.4% (9/55). In multivariate analysis, microcalcification and progesterone receptor expression were significantly associated with the upgrade of LCIS (p=0.023 and p=0.044, respectively).
Conclusion
The current study showed a relatively high rate of upgrade of LCIS on preoperative biopsy to DCIS or invasive cancer. The presence of microcalcification and progesterone receptor expression may be potential predictors of upgradation of LCIS on preoperative biopsy. Surgical excision of the LCIS during preoperative biopsy could be a management option to identify the concealed malignancy.

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Impact of Axillary Burden on Survival: A Comparative Study of Invasive Lobular Carcinoma and Invasive Ductal Carcinoma in Early-Stage Breast Cancer
Kwang Hyun Yoon, Jee Hyun Ahn, Jee Ye Kim, Hyung Seok Park, Seung Il Kim, Seho Park
Cancers.2025; 17(6): 1002. CrossRef
Upgrade Rate and Long-term Outcomes of Lobular Neoplasia
Sara Ardila, Annabel Chen, Taylor Maramara, Danielle Henry, April Phantana-angkool
Current Breast Cancer Reports.2024; 16(1): 11. CrossRef
Immediate and delayed risk of breast cancer associated with classic lobular carcinoma in situ and its variants
Hannah L. Chung, Lavinia P. Middleton, Jia Sun, Gary J. Whitman
Breast Cancer Research and Treatment.2024; 205(3): 545. CrossRef
De-escalation of Surgical Intervention and Contemporary Management Recommendations for Lobular Neoplasia, Atypical Ductal Hyperplasia, and Ductal Carcinoma In Situ
Amanda L. Amin, Megan E. Miller
Current Breast Cancer Reports.2023; 15(3): 298. CrossRef
In Search of Calcifications : Histologic Analysis and Diagnostic Yield of Stereotactic Core Needle Breast Biopsies
Fazilet Yilmaz, Sean M Hacking, Linda Donegan, Lijuan Wang, Evgeny Yakirevich, Yihong Wang
American Journal of Clinical Pathology.2023; 160(2): 200. CrossRef

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Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer: Ji Soo Park, Saeam Shin, Yoon Jung Lee, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Sun Hwa Lee, Tae Il Kim, Hyung Seok Park; Cancer Res Treat. 2022;54(4):1099-1110. Published online November 17, 2021; DOI: https://doi.org/10.4143/crt.2021.978

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Purpose
The aim of the study was to evaluate the clinical implication of multigene panel testing of beyond BRCA genes in Korean patients with BRCA1/2 mutation-negative breast cancer.
Materials and Methods
Between 2016 and 2019, a total of 700 BRCA1/2 mutation-negative breast cancer patients received comprehensive multigene panel testing and genetic counseling. Among them, 347 patients completed a questionnaire about cancer worry, genetic knowledge, and preference for the method of genetic tests during pre- and post-genetic test counseling. The frequency of pathogenic and likely pathogenic variants (PV/LPV) were analyzed.
Results
At least one PV/LPV of 26 genes was found in 76 out of 700 patients (10.9 %). The rate for PV/LPV was 3.4% for high-risk genes (17 PALB2, 6 TP53, and 1 PTEN). PV/LPVs of clinical actionable genes for breast cancer management, high-risk genes and other moderate-risk genes such as ATM, BARD1, BRIP, CHEK2, NF1, and RAD51D, were observed in 7.4%. Patients who completed the questionnaire showed decreased concerns about the risk of additional cancer development (average score, 4.21 to 3.94; p < 0.001), influence on mood (3.27 to 3.13; p < 0.001), influence on daily functioning (3.03 to 2.94; p=0.006); and increased knowledge about hereditary cancer syndrome (66.9 to 68.8; p=0.025) in post-test genetic counseling. High cancer worry scales (CWSs) were associated with age ≤ 40 years and the identification of PV/LPV. Low CWSs were related to the satisfaction of the counselee.
Conclusion
Comprehensive multigene panel test with genetic counseling is clinically applicable. It should be based on interpretable genetic information, consideration of potential psychological consequences, and proper preventive strategies.

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Evidence-based advancements in breast cancer genetic counseling: a review
Zahra Batool, Mohammad Amjad Kamal, Bairong Shen
Breast Cancer.2025; 32(2): 258. CrossRef
Exploring Literacy and Knowledge Gaps and Disparities in Genetics and Oncogenomics Among Cancer Patients and the General Population: A Scoping Review
Katerina Nikitara, Maria Luis Cardoso, Astrid Moura Vicente, Célia Maria Batalha Silva Rasga, Roberta De Angelis, Zeina Chamoun Morel, Arcangela De Nicolo, Maria Nomikou, Christina Karamanidou, Christine Kakalou
Healthcare.2025; 13(2): 121. CrossRef
Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes
Jun-Kyu Kim, Mi-Ae Jang, Jong Eun Park, Dongju Won, Jung-Sook Ha, Kyoung-Bo Kim, Boyoung Park, Sun-Young Kong
BMJ Open.2025; 15(2): e093905. CrossRef
PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients
M.-C. Kang, S. Lee, H. Kim, H.-S. Kang, S.-Y. Jung, J.-A. Hwang, J. Kwon, K.S. Lee, M.C. Lim, S.-Y. Park, S.H. Sim, W. Choi, J.E. Park, E.-H. Cho, S.-Y. Kong
ESMO Open.2025; 10(3): 104132. CrossRef
Human epidermal growth factor receptor-2 expression and subsequent dynamic changes in patients with ovarian cancer
Yoo-Na Kim, Yun Soo Chung, Eunhyang Park, Seung Tae Lee, Jung-Yun Lee
Scientific Reports.2024;[Epub] 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
Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families
Ava Kwong, Cecilia Yuen Sze Ho, Chun Hang Au, Sze Keong Tey, Edmond Shiu Kwan Ma
Journal of Personalized Medicine.2024; 14(8): 866. CrossRef
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis
Jong Eun Park, Min-Chae Kang, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Chang-Seok Ki, Sun-Young Kong
Cancers.2024; 16(19): 3318. CrossRef
Clinical Significance of PALB2 Pathogenic Germline Variant
Min-Chae Kang, R.N., Jong Eun Park, Mi-Ae Jang, Dongju Won, Boyoung Park, Seeyoun Lee, Dong Ock Lee, Kum Hei Ryu, Yoon-Jung Chang, Sun-Young Kong
Laboratory Medicine Online.2024; 14(4): 311. CrossRef
Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea
Chayanee Sae-lim, Seongyeon Jo, Shinyoung Park, Taeyong Kweon, Jeea Lee, Yoonjung Lee, Sun Hwa Lee, Dongju Won, Eun Ji Nam, Jung Woo Han, Tae Il Kim, Ji Soo Park, Hyung Seok Park
Journal of Breast Cancer.2024; 27(6): 372. CrossRef
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer
Antonella Turchiano, Marilidia Piglionica, Stefania Martino, Rosanna Bagnulo, Antonella Garganese, Annunziata De Luisi, Stefania Chirulli, Matteo Iacoviello, Michele Stasi, Ornella Tabaku, Eleonora Meneleo, Martina Capurso, Silvia Crocetta, Simone Lattaru
Genes.2023; 14(8): 1530. CrossRef

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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 Res Treat. 2020;52(3):680-688. Published online January 28, 2020; DOI: https://doi.org/10.4143/crt.2019.351

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Purpose
Recent studies revealed the BRCA1 c.5339T>C, p.Leu1780Pro variant (L1780P) is highly suggested as a likely pathogenic. The aim of this study was to evaluate clinicopathologic features of L1780P with breast cancer (BC) using multicenter data from Korea to reinforce the evidence as a pathogenic mutation and to compare L1780P and other BRCA1/2mutations using Korean Hereditary Breast Cancer (KOHBRA) study data.
Materials and Methods
The data of 54 BC patients with L1780P variant from 10 institutions were collected and the clinicopathologic characteristics of the patients were reviewed. The hereditary breast and/or ovarian cancer–related characteristics of the L1780P variant were compared to those of BC patients in the KOHBRA study.
Results
The median age of all patients was 38 years, and 75.9% of cases showed triple-negative breast cancer. Comparison of cases with L1780P to carriers from the KOHBRA study revealed that the L1780P patients group was more likely to have family history (FHx) of ovarian cancer (OC) (24.1% vs. 19.6% vs. 11.2%, p < 0.001 and p=0.001) and a personal history of OC (16.7% vs. 2.9% vs. 1.3%, p=0.003 and p=0.001) without significant difference in FHx of BC and bilateral BC. The cumulative risk of contralateral BC at 10 years after diagnosis was 31.9%, while the cumulative risk of OC at 50 years of age was 20.0%. Patients with L1780P showed similar features with BRCA1 carriers and showed higher penetrance of OC than patients with other BRCA1 mutations.
Conclusion
L1780P should be considered as a pathogenic mutation. Risk-reducing salpingo-oophorectomy is highly recommended for women with L1780P.

Citations

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Whole Exome-Wide Association Identifies Rare Variants in GALNT9 Associated with Middle Eastern Papillary Thyroid Carcinoma Risk
Rong Bu, Abdul K. Siraj, Saud Azam, Kaleem Iqbal, Zeeshan Qadri, Maha Al-Rasheed, Saif S. Al-Sobhi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Cancers.2023; 15(17): 4235. CrossRef
Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers
Jeeyeon Lee, Ji Yeon Ham, Ho Yong Park, Jin Hyang Jung, Wan Wook Kim, Byeongju Kang, Yee Soo Chae, Soo Jung Lee, In Hee Lee, Nan Young Lee
Scientific Reports.2022;[Epub] CrossRef
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
Cancers.2022; 14(10): 2405. CrossRef
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
Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea
Joohyun Hong, Jiyun Lee, Minsuk Kwon, Ji-Yeon Kim, Jong-Won Kim, Jin Seok Ahn, Young-Hyuck Im, Yeon Hee Park
Diagnostics.2021; 11(2): 370. 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
Scientific Reports.2021;[Epub] CrossRef
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
Cancers.2021; 13(9): 2192. CrossRef

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A Phase II Study to Evaluate the Safety and Efficacy of Pegteograstim in Korean Breast Cancer Patients Receiving Dose-Dense Doxorubicin/Cyclophosphamide: Gun Min Kim, Joo Hoon Kim, Ji Heung Kim, Young Up Cho, Seung Il Kim, Seho Park, Hyung Seok Park, Ji Ye Kim, Joohyuk Sohn; Cancer Res Treat. 2019;51(2):812-818. Published online September 19, 2018; DOI: https://doi.org/10.4143/crt.2018.383

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Purpose
Dose-dense chemotherapy (DD-CT) is a preferred (neo)adjuvant regimen in early breast cancer (BC). Although the results of reported randomized trials are conflicting, a recent metaanalysis showed improved overall and disease-free survival with DD-CT compared to conventional schedules. However, no DD-CT safety data for Korean BC patients are available. This phase II study was conducted to evaluate the safety and efficacy of pegteograstim in Korean BC patients receiving DD-CT.
Materials and Methods
Patients with operable (stage I-III), histologically confirmed BC received four cycles of intravenous doxorubicin (60 mg/m2) and cyclophosphamide (600 mg/m2) on day 1 every 2 weeks as neoadjuvant or adjuvant therapy. Pegteograstim (6.0 mg) was administered subcutaneously on day 2 of each cycle. The primary endpoint was the incidence of febrile neutropenia (FN). The secondary endpoints were safety and tolerability.
Results
Of 63 patients, one (1.6%) developed FN during all cycles of DD-CT. Dose delay was observed in four patients (6.3%) and dose reduction in two (3.2%) during DD-CT. Frequent adverse events (AEs) were nausea, alopecia, generalized muscle weakness, myalgia, mucositis, anorexia, dyspepsia, and diarrhea; most AEs were related to chemotherapy. Grade 3-4 AEs were reported in five of 63 patients (7.9%), and all grade 3 and 4 AEs were related to chemotherapy. Adverse drug reactions possibly linked to pegteograstim were abdominal pain, bone pain, myalgia, generalized muscle weakness, and headache in five of 63 patients (7.9%).
Conclusion
Dose-dense AC (doxorubicin/cyclophosphamide) chemotherapywith pegteograstim support is a tolerable and safe regimen in Korean early BC patients.

Citations

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Local dose-dense chemotherapy for triple-negative breast cancer via minimally invasive implantation of 3D printed devices
Noehyun Myung, Hyun-Wook Kang
Asian Journal of Pharmaceutical Sciences.2024; 19(1): 100884. CrossRef
Safety and Efficacy of Pegteograstim on Chemotherapy-induced Neutropenia in Children and Adolescents With Solid Tumors
Hee Won Cho, Ji Won Lee, Hee Young Ju, Ju Kyung Hyun, Keon Hee Yoo, Hong Hoe Koo, Kyunga Kim, Ki Woong Sung
Journal of Pediatric Hematology/Oncology.2022; 44(2): e362. CrossRef
Prophylaxis and treatment strategies for optimizing chemotherapy relative dose intensity
Michelle Shayne, R. Donald Harvey, Gary H. Lyman
Expert Review of Anticancer Therapy.2021; 21(10): 1145. CrossRef

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Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2: Kyung Jin Eoh, Ji Eun Kim, Hyung Seok Park, Seung-Tae Lee, Ji Soo Park, Jung Woo Han, Jung-Yun Lee, Sunghoon Kim, Sang Wun Kim, Jae Hoon Kim, Young Tae Kim, Eun Ji Nam; Cancer Res Treat. 2018;50(3):917-925. Published online September 27, 2017; DOI: https://doi.org/10.4143/crt.2017.220

Abstract PDF Supplementary Material PubReader ePub

Purpose
Next-generation sequencing (NGS) allows simultaneous sequencing of multiple cancer susceptibility genes and may represent a more efficient and less expensive approach than sequential testing. We assessed the frequency of germline mutations in individuals with epithelial ovarian cancer (EOC), using multi-gene panels and NGS.
Materials and Methods
Patients with EOC (n=117) with/without a family history of breast or ovarian cancer were recruited consecutively, from March 2016 toDecember 2016.GermlineDNAwas sequenced using 35-gene NGS panel, in order to identify mutations. Upon the detection of a genetic alteration using the panel, results were cross-validated using direct sequencing.
Results
Thirty-eight patients (32.5%) had 39 pathogenic or likely pathogenic mutations in eight genes, including BRCA1 (n=21), BRCA2 (n=10), BRIP1 (n=1), CHEK2 (n=2), MSH2 (n=1), POLE (n=1), RAD51C (n=2), and RAD51D (n=2). Among 64 patients with a family history of cancer, 27 (42.2%) had 27 pathogenic or likely pathogenic mutations, and six (9.3%) had mutations in genes other than BRCA1/2, such as CHECK2, MSH2, POLE, and RAD51C. Fifty-five patients (47.0%) were identified to carry only variants of uncertain significance.
Conclusion
Using the multi-gene panel test, we found that, of all patients included in our study, 32.5% had germline cancer-predisposing mutations. NGS was confirmed to substantially improve the detection rates of a wide spectrum of mutations in EOC patients compared with those obtained with the BRCA1/2 testing alone.

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Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya, Ekkapong Roothumnong, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, Warisara Tansa-Nga, Khontawan Pongsuktavorn, Supakit Wiboonthanasarn, Warunya Tititumjariya, Nannipa Phuphuripan, Chittap
npj Genomic Medicine.2024;[Epub] CrossRef
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Zheng Feng, Siyu Chen, Na An, Zhihui Xiu, Xingzhu Ju, Xiaojun Chen, Rui Bi, Jie Wang, Shida Zhu, Xiaohua Wu, Hao Wen
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Siddhartha Yadav, Fergus J. Couch, Susan M. Domchek
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Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families
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Min-Chae Kang, R.N., Jong Eun Park, Mi-Ae Jang, Dongju Won, Boyoung Park, Seeyoun Lee, Dong Ock Lee, Kum Hei Ryu, Yoon-Jung Chang, Sun-Young Kong
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Giovanni Innella, Lea Godino, Giulia Erini, Antonio De Leo, Donatella Santini, Anna Myriam Perrone, Pierandrea De Iaco, Claudio Zamagni, Daniela Turchetti
Journal of Clinical Pathology.2023; 76(8): 510. CrossRef
Partner and localizer of BRCA2 (PALB2) pathogenic variants and ovarian cancer: A systematic review and meta-analysis.
Priyanka Narayan, Muhammad Danyal Ahsan, Emily M. Webster, Luiza Perez, Sarah R. Levi, Benedict Harvey, Isabel Wolfe, Shanice Beaumont, Jesse T. Brewer, Drew Siegel, Charlene Thomas, Paul Christos, Andy Hickner, Eloise Chapman-Davis, Evelyn Cantillo, Kevi
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International Journal of Molecular Sciences.2023; 24(23): 17020. CrossRef
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Chikako Ogawa, Akira Hirasawa, Naoyuki Ida, Keiichiro Nakamura, Hisashi Masuyama
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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
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Sidrah Shah, Alison Cheung, Mikolaj Kutka, Matin Sheriff, Stergios Boussios
International Journal of Environmental Research and Public Health.2022; 19(13): 8113. CrossRef
Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome
Tomoko Yoshihama, Akira Hirasawa, Kokichi Sugano, Teruhiko Yoshida, Mineko Ushiama, Arisa Ueki, Tomoko Akahane, Yoshiko Nanki, Kensuke Sakai, Takeshi Makabe, Wataru Yamagami, Nobuyuki Susumu, Kaori Kameyama, Kenjiro Kosaki, Daisuke Aoki
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Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls: Ji Soo Park, Eun Ji Nam, Hyung Seok Park, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Seung-Tae Lee; Cancer Res Treat. 2017;49(4):1012-1021. Published online January 17, 2017; DOI: https://doi.org/10.4143/crt.2016.433

Abstract PDF Supplementary Material PubReader ePub

Purpose
Comparison of variant frequencies in the general population has become an essential part of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpreting sequence variants. We determined the optimal number of relevant ethnic controls that should be used to accurately calculate the odds ratio (OR) of genetic variants.
Materials and Methods
Using the ACMG guidelines, we reclassified BRCA1 and BRCA2 mutations and variants of unknown significance in 745 Korean patients susceptible to hereditary breast and ovarian cancer compared with 1,314 Korean population controls.
Results
We observed that the ORs were falsely inflated when we analyzed several variants using non-Korean population data. Our simulation indicated that the number of controls needed for the lower limit of a 95% confidence interval to exceed 1.0 varied according to the frequency of the variant in each patient group, with more than 820 controls needed for a variant existing in 1% of cases. Using a sufficient number of relevant population data, we could efficiently classify variants and identified the BRCA1 p.Leu1780Pro mutation as a possible pathogenic founder mutation in Korean patients.
Conclusion
Our study suggests that BRCA1 p.Leu1780Pro is a novel pathogenic mutation found in Korean patients. We also determined the optimal number of relevant ethnic controls needed for accurate variant classification according to the ACMG guidelines.

Citations

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Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients: Kyung Jin Eoh, Hyung Seok Park, Ji Soo Park, Seung-Tae Lee, Jeongwoo Han, Jung-Yun Lee, Sang Wun Kim, Sunghoon Kim, Young Tae Kim, Eun Ji Nam; Cancer Res Treat. 2017;49(2):408-415. Published online July 27, 2016; DOI: https://doi.org/10.4143/crt.2016.135

Abstract PDF PubReader ePub

Purpose
The purpose of this study was to investigate the clinical features of epithelial ovarian cancer (EOC) patients according to BRCA1/2 mutation status (mutation, variant of uncertain significance [VUS], or wild type).
Materials and Methods
We analyzed 116 patients whose BRCA1/2 genetic test results were available for mutation type and clinical features, including progression-free survival (PFS), overall survival (OS), and response rate. These characteristics were compared according to BRCA1/2 mutation status.
Results
Thirty-seven (37/116, 31.9%) BRCA1/2 mutations were identified (BRCA1, 30; BRCA2, 7). Mutation of c.3627_3628insA (p.Leu1209_Glu1210?fs) in BRCA1 was observed in five patients (5/37, 13.5%). Twenty-five patients had BRCA1/2 VUSs (25/116, 21.6%). Personal histories of breast cancer were observed in 48.6% of patients with BRCA1/2 mutation (18/37), 16.0% of patients with BRCA1/2 VUS (4/25), and 7.4% of patients with BRCA wild type (4/54) (p < 0.001). Patients with BRCA1/2 mutation showed longer OS than those with BRCA1/2 wild type (p=0.005). No significant differences were detected in PFS, OS, or response rates between patients with BRCA1/2 VUS and BRCA1/2 mutation (p=0.772, p=0.459, and p=0.898, respectively).
Conclusion
Patientswith BRCA1/2 mutation had longer OS than thosewith BRCA1/2wild type. Patients with BRCA1/2 mutation and BRCA1/2 VUS displayed similar prognoses.

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