Germline <i>PALB2</i> Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients

• Main Authors: Ava Kwong, Vivian Y. Shin, Cecilia Y. S. Ho, Aleena Khalid, Chun Hang Au, Karen K. L. Chan, Hextan Y. S. Ngan, Tsun-Leung Chan, Edmond S. K. Ma
• Format: Article
• Language: English
• Published: MDPI AG 2021-08-01
• Series: Cancers
• Subjects: hereditary breast cancer; <i>PALB2</i> mutation; Chinese; breast cancer risk
• Online Access: https://www.mdpi.com/2072-6694/13/16/4195

The prevalence of the <i>PALB2</i> mutation in breast cancer varies across different ethnic groups; hence, it is of intense interest to evaluate the cancer risk and clinical association of the <i>PALB2</i> mutation in Chinese breast and/or ovarian cancer patients. We performed sequencing with a 6-gene test panel (<i>BRCA1, BRCA2, TP53</i>, <i>PTEN</i>, <i>PALB2</i>, and <i>CDH1</i>) to identify the prevalence of the <i>PALB2</i> germline mutation among 2631 patients with breast and/or ovarian cancer. In this cohort, 39 mutations were identified with 24 types of mutation variants, where the majority of the mutations were frame-shift mutations and resulted in early termination. We also identified seven novel <i>PALB2</i> mutations. Most of the <i>PALB2</i> mutation carriers had breast cancer (36, 92.3%) and were more likely to have family history of breast cancer (19, 48.7%). The majority of the breast tumors were invasive ductal carcinoma (NOS type) (34, 81.0%) and hormonal positive (ER: 32, 84.2%; PR: 23, 60.5%). Pathogenic mutations of <i>PALB2</i> were found in 39 probands with a mutation frequency of 1.6% and 1% in breast cancer and ovarian cancer patients, respectively. <i>PALB2</i> mutation carriers were more likely have hormonal positive tumors and were likely to have familial aggregation of breast cancer.