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.

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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.

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