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The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes

A proportion of up to 10% of breast cancer resulted from hereditary germline pathogenic variants (GPVs) in cancer predisposition genes (CPGs), which been demonstrated distinct clinical features and imaging manifestations. However, the performance of imaging modalities for breast cancer surveillance...

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Autores principales: Liu, Jiaqi, Wang, Xin, Dong, Lin, Huang, Xin, Zhao, Hengqiang, Li, Jiaxin, Huang, Shengkai, Yuan, Pei, Wang, Wenyan, Wang, Jie, Xing, Zeyu, Jia, Ziqi, Ming, Yue, Li, Xiao, Qin, Ling, Liu, Gang, Wu, Jiang, Li, Yiqun, Zhang, Menglu, Feng, Kexin, Ying, Jianming, Wang, Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316045/
https://www.ncbi.nlm.nih.gov/pubmed/34336698
http://dx.doi.org/10.3389/fonc.2021.710156
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author Liu, Jiaqi
Wang, Xin
Dong, Lin
Huang, Xin
Zhao, Hengqiang
Li, Jiaxin
Huang, Shengkai
Yuan, Pei
Wang, Wenyan
Wang, Jie
Xing, Zeyu
Jia, Ziqi
Ming, Yue
Li, Xiao
Qin, Ling
Liu, Gang
Wu, Jiang
Li, Yiqun
Zhang, Menglu
Feng, Kexin
Ying, Jianming
Wang, Xiang
author_facet Liu, Jiaqi
Wang, Xin
Dong, Lin
Huang, Xin
Zhao, Hengqiang
Li, Jiaxin
Huang, Shengkai
Yuan, Pei
Wang, Wenyan
Wang, Jie
Xing, Zeyu
Jia, Ziqi
Ming, Yue
Li, Xiao
Qin, Ling
Liu, Gang
Wu, Jiang
Li, Yiqun
Zhang, Menglu
Feng, Kexin
Ying, Jianming
Wang, Xiang
author_sort Liu, Jiaqi
collection PubMed
description A proportion of up to 10% of breast cancer resulted from hereditary germline pathogenic variants (GPVs) in cancer predisposition genes (CPGs), which been demonstrated distinct clinical features and imaging manifestations. However, the performance of imaging modalities for breast cancer surveillance in CPG mutation-carriers is still unclear, especially in Asian women. A population of 3002 breast cancer patients who received germline genetic testing of CPGs was enrolled from three hospitals in China. In total, 343 (11.6%) patients were found to harbor GPVs in CPGs, including 137 (4.6%) in BRCA1 and 135 (4.6%) in BRCA2. We compared the performances of ultrasound, mammograms, MRI, and the combining strategies in CPG mutation carriers and non-carriers. As a result, the ultrasound showed a higher detection rate compared with mammograms regardless of the mutation status. However, its detection rate was lower in CPG mutation carriers than in non-carriers (93.2% vs 98.0%, P=2.1×10(-4)), especially in the BRCA1 mutation carriers (90.9% vs 98.0%, P=2.0×10(-4)). MRI presented the highest sensitivity (98.5%) and the lowest underestimation rate (14.5%) in CPG mutation carriers among ultrasound, mammograms, and their combination. Supplemental ultrasound or mammograms would add no significant value to MRI for detecting breast cancer (P>0.05). In multivariate logistic regression analysis, the family or personal cancer history could not replace the mutation status as the impact factor for the false-negative result and underestimation. In summary, clinicians and radiologists should be aware of the atypical imaging presentation of breast cancer in patients with GPVs in CPGs.
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spelling pubmed-83160452021-07-29 The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes Liu, Jiaqi Wang, Xin Dong, Lin Huang, Xin Zhao, Hengqiang Li, Jiaxin Huang, Shengkai Yuan, Pei Wang, Wenyan Wang, Jie Xing, Zeyu Jia, Ziqi Ming, Yue Li, Xiao Qin, Ling Liu, Gang Wu, Jiang Li, Yiqun Zhang, Menglu Feng, Kexin Ying, Jianming Wang, Xiang Front Oncol Oncology A proportion of up to 10% of breast cancer resulted from hereditary germline pathogenic variants (GPVs) in cancer predisposition genes (CPGs), which been demonstrated distinct clinical features and imaging manifestations. However, the performance of imaging modalities for breast cancer surveillance in CPG mutation-carriers is still unclear, especially in Asian women. A population of 3002 breast cancer patients who received germline genetic testing of CPGs was enrolled from three hospitals in China. In total, 343 (11.6%) patients were found to harbor GPVs in CPGs, including 137 (4.6%) in BRCA1 and 135 (4.6%) in BRCA2. We compared the performances of ultrasound, mammograms, MRI, and the combining strategies in CPG mutation carriers and non-carriers. As a result, the ultrasound showed a higher detection rate compared with mammograms regardless of the mutation status. However, its detection rate was lower in CPG mutation carriers than in non-carriers (93.2% vs 98.0%, P=2.1×10(-4)), especially in the BRCA1 mutation carriers (90.9% vs 98.0%, P=2.0×10(-4)). MRI presented the highest sensitivity (98.5%) and the lowest underestimation rate (14.5%) in CPG mutation carriers among ultrasound, mammograms, and their combination. Supplemental ultrasound or mammograms would add no significant value to MRI for detecting breast cancer (P>0.05). In multivariate logistic regression analysis, the family or personal cancer history could not replace the mutation status as the impact factor for the false-negative result and underestimation. In summary, clinicians and radiologists should be aware of the atypical imaging presentation of breast cancer in patients with GPVs in CPGs. Frontiers Media S.A. 2021-07-13 /pmc/articles/PMC8316045/ /pubmed/34336698 http://dx.doi.org/10.3389/fonc.2021.710156 Text en Copyright © 2021 Liu, Wang, Dong, Huang, Zhao, Li, Huang, Yuan, Wang, Wang, Xing, Jia, Ming, Li, Qin, Liu, Wu, Li, Zhang, Feng, Ying and Wang https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Liu, Jiaqi
Wang, Xin
Dong, Lin
Huang, Xin
Zhao, Hengqiang
Li, Jiaxin
Huang, Shengkai
Yuan, Pei
Wang, Wenyan
Wang, Jie
Xing, Zeyu
Jia, Ziqi
Ming, Yue
Li, Xiao
Qin, Ling
Liu, Gang
Wu, Jiang
Li, Yiqun
Zhang, Menglu
Feng, Kexin
Ying, Jianming
Wang, Xiang
The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes
title The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes
title_full The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes
title_fullStr The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes
title_full_unstemmed The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes
title_short The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes
title_sort distinct performances of ultrasound, mammograms, and mri in detecting breast cancer in patients with germline pathogenic variants in cancer predisposition genes
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316045/
https://www.ncbi.nlm.nih.gov/pubmed/34336698
http://dx.doi.org/10.3389/fonc.2021.710156
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