Advances in Molecular Diagnosis of Breast Cancer
DOI:
https://doi.org/10.53469/jcmp.2024.06(11).24Keywords:
Breast cancer, Molecular diagnosis, FISH, NGSAbstract
Breast cancer is a highly heterogeneous malignancy. The continuous development and progress of molecular diagnostic technology has been applied in the diagnosis and treatment of breast cancer, which highlights the great potential of individualized precision diagnosis and treatment. Molecular diagnosis relies on experimental techniques of molecular biology, and plays an important role in the study of tumor pathogenesis, diagnosis, treatment and prognosis. Early detection, early diagnosis, early treatment and individualized diagnosis and treatment plan can effectively reduce the mortality of breast cancer patients and play an important role in improving patient prognosis. Molecular diagnosis has become an indispensable part of cancer diagnosis, prognosis and treatment prediction. With the rapid development of molecular biology, the molecular diagnosis of breast cancer has reached a new level.
References
SUNG H, FERLAY J, SIEGEL R L, et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries [J]. CA Cancer J Clin, 2021, 71(3): 209-249.
SIEGEL R L, MILLER K D, FUCHS H E, et al. Cancer statistics, 2022 [J]. CA Cancer J Clin, 2022, 72(1): 7-33.
XIA C, DONG X, LI H, et al. Cancer statistics in China and United States, 2022: profiles, trends, and determinants [J]. Chin Med J (Engl), 2022, 135(5): 584-590.
Wei Wei, Yi Xianlin, Liao Hai. Research progress on liquid biopsy technology and its application in breast cancer [J]. Guangxi Medical Journal, 2022, 44(2): 203-207.
Jia Ning. Gene diagnosis of breast cancer based on next-generation sequencing technology [J]. Chinese Journal of Breast Disease (Electronic Edition), 2020, 14(5): 303-307.
Zhou Hongtao. Molecular diagnostics and individualized therapy of cancer [J]. Hainan Medical Journal, 2010, 21(22): 5-8.
WESOŁA M, JELEŃ M. A Comparison of IHC and FISH Cytogenetic Methods in the Evaluation of HER2 Status in Breast Cancer [J]. Adv Clin Exp Med, 2015, 24(5): 899-903.
Shang Jiuyan, Liu Chang, Liu Yueping. Interpretation and prognostic analysis of HER-2 testing guidelines for 2019 edition in cases with equivocal FISH results [J]. Journal of Clinical and Experimental Pathology, 2021, 37(9): 1021-1025.
WOLFF A C, HAMMOND M E, HICKS D G, et al. Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update [J]. J Clin Oncol, 2013, 31(31): 3997-4013.
TARANTINO P, HAMILTON E, TOLANEY S M, et al. HER2-Low Breast Cancer: Pathological and Clinical Landscape [J]. J Clin Oncol, 2020, 38(17): 1951-1962.
HAN X, SHI Y, MA L, et al. Comparison of immunohistochemistry with fluorescence in situ hybridization in determining the human epidermal growth factor receptor 2 status of breast cancer specimens: a multicenter study of 3, 149 Chinese patients [J]. Chin Med J (Engl), 2014, 127(2): 246-253.
MROZKOWIAK A, OLSZEWSKI W P, PIAŚCIK A, et al. HER2 status in breast cancer determined by IHC and FISH: comparison of the results [J]. Pol J Pathol, 2004, 55(4): 165-171.
KAMMORI M, KURABAYASHI R, KASHIO M, et al. Prognostic utility of fluorescence in situ hybridization for determining HER2 gene amplification in breast cancer [J]. Oncol Rep, 2008, 19(3): 651-656.
Jia Lili, Zhang Zhe. Application progress of molecular diagnosis in breast cancer [J]. Journal of Southeast University (Medical Edition), 2022, 41(2): 291-293.
Mou Zhigong, Xie Mingjun. Screening of differentially expressed genes in early-onset breast cancer based on bioinformatics [J]. Chinese Journal of Breast Diseases (Electronic Edition), 2022, 16(1): 6-13.
Liu Jingting, Long Jianping, Jin Fengling, et al. Bioinformatics analysis of cell division cycle associated proteins (CDCAs) in the occurrence, development, and metastasis of breast cancer [J]. Journal of Huazhong University of Science and Technology (Medical Edition), 2022, 51(2): 172-179.
TUCKER T, MARRA M, FRIEDMAN J M. Massively parallel sequencing: the next big thing in genetic medicine [J]. Am J Hum Genet, 2009, 85(2): 142-154.
MORGANTI S, TARANTINO P, FERRARO E, et al. Next Generation Sequencing (NGS): A Revolutionary Technology in Pharmacogenomics and Personalized Medicine in Cancer [J]. Adv Exp Med Biol, 2019, 1168: 9-30.
HUSSEN B M, ABDULLAH S T, SALIHI A, et al. The emerging roles of NGS in clinical oncology and personalized medicine [J]. Pathol Res Pract, 2022, 230: 153760.
RABBANI B, MAHDIEH N, HOSOMICHI K, et al. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders [J]. J Hum Genet, 2012, 57(10): 621-632.
CORLESS C L. Next-Generation Sequencing in Cancer Diagnostics [J]. J Mol Diagn, 2016, 18(6): 813-816.
SHIN H C, LEE H B, YOO T K, et al. Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test [J]. Cancer Res Treat, 2020, 52(3): 697-713.
ZELLI V, COMPAGNONI C, CANNITA K, et al. Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer [J]. High Throughput, 2020, 9(1).
QUESADA A E, ZHANG Y, PTASHKIN R, et al. Next generation sequencing of breast implant-associated anaplastic large cell lymphomas reveals a novel STAT3-JAK2 fusion among other activating genetic alterations within the JAK-STAT pathway [J]. Breast J, 2021, 27(4): 314-321.
MEHRGOU A, AKOUCHEKIAN M. The importance of BRCA1 and BRCA2 genes mutations in breast cancer development [J]. Med J Islam Repub Iran, 2016, 30: 369.
LHOTA F, ZEMANKOVA P, KLEIBLOVA P, et al. Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients [J]. Clin Genet, 2016, 90(4): 324-333.
Zhang Yu, Liu Qiang. Progress and prospects of liquid biopsy in precision treatment of breast cancer. China Cancer, 2022, 32(8): 688-697.
TAY T K Y, TAN P H. Liquid Biopsy in Breast Cancer: A Focused Review [J]. Arch Pathol Lab Med, 2021, 145(6): 678-686.
LONE S N, NISAR S, MASOODI T, et al. Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments [J]. Mol Cancer, 2022, 21(1): 79.
LIN P H, WANG M Y, LO C, et al. Circulating Tumor DNA as a Predictive Marker of Recurrence for Patients With Stage II-III Breast Cancer Treated With Neoadjuvant Therapy [J]. Front Oncol, 2021, 11: 736769.
SUN L, WU A, BEAN G R, et al. Molecular Testing in Breast Cancer: Current Status and Future Directions [J]. J Mol Diagn, 2021, 23(11): 1422-1432.
VAHABI A, REZAIE J, HASSANPOUR M, et al. Tumor Cells-derived exosomal CircRNAs: Novel cancer drivers, molecular mechanisms, and clinical opportunities [J]. Biochem Pharmacol, 2022, 200: 115038.
YE D, GONG M, DENG Y, et al. Roles and clinical application of exosomal circRNAs in the diagnosis and treatment of malignant tumors [J]. J Transl Med, 2022, 20(1): 161.
The Expert Board of Breast Cancer Biomarkers, Tumor Marker Committee of Chinese Anti-cancer Association. Expert consensus on clinical application of biomarkers for precision treatment of breast cancer based on target guidance (2022 edition) [J]. Chinese Journal of Cancer Prevention and Treatment, 2022, 14(4):346-362.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Haoyi Zi, Yinhai Dai
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
