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Using Genetic Testing at Cancer Diagnosis for Breast Cancer Control

Sun, L; Wei, X; Manchanda, R; Legood, R; Yang, L; (2022) Using Genetic Testing at Cancer Diagnosis for Breast Cancer Control. China CDC Weekly , 4 (32) pp. 711-714. 10.46234/ccdcw2022.148. Green open access

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Abstract

Breast cancer (BC) is the most common cancer among women globally. The WHO estimates 416,000 women are diagnosed to have BC annually in China, and the number of BC cases and deaths in China are predicted to rise by 16% and 48%, respectively, over the next 20 years (1). BC can be hereditary, and the most common cause of hereditary BC is an inherited pathogenic or likely pathogenic variant (henceforth called ‘pathogenic variant’ or ‘PV’) in the BRCA1 or BRCA2 genes. BRCA1/BRCA2 PV carriers have a 17%–44% risk of developing ovarian cancer (OC) and a 69%–72% risk of developing BC up to the age of 80 (2). PALB2 is a more recently established, high-penetrance BC gene: testing for which is now more widely advocated. PALB2 carriers have a 53% risk of BC up to the age of 80 (3). In addition, PALB2 has recently been shown to be a moderate-risk OC gene with a 5% lifetime risk of OC (3). PV in these three genes accounts for around 4% of BC. Most of these cancers are preventable or can be better mitigated the earlier they are detected.

Type: Article
Title: Using Genetic Testing at Cancer Diagnosis for Breast Cancer Control
Location: China
Open access status: An open access version is available from UCL Discovery
DOI: 10.46234/ccdcw2022.148
Publisher version: https://weekly.chinacdc.cn/en/article/doi/10.46234...
Language: English
Additional information: Copyright © 2022 The Authors, some rights reserved; exclusive licensee China CDC. All content is distributed under a Creative Commons Attribution Non Commercial License 4.0 (CC BY-NC).
Keywords: Breast Cancer, Cancer Diagnosis, Cost-effectiveness, Genetic Testing
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Inst of Clinical Trials and Methodology
URI: https://discovery.ucl.ac.uk/id/eprint/10160647
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