Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand

Abstract

Background: BRCA1 and BRCA2 genes are known to increase breast cancer's lifetime risk. Early identification of women with this inherited risk can potentially reduce the risk of breast and/or ovarian cancer and, together with early screening, decrease the mortality rate. Objective: This study explored the frequency and distribution of genetic variants in consecutive cases of breast cancer in Narathiwat province, one of the three provinces in the southernmost Thai border. Material & Method: A series of 64 consecutive breast cancer patients who underwent treatment in two general hospitals in the province during the period from the year 2021 to 2022. Genotyping studies were performed using a whole exome sequencing platform. Moderate to high penetrance variants recommended by the National Comprehensive Cancer Network (NCCN) guidelines 2022 (ATM,

Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand

“…Two unrelated patients with BC diagnosed with TNBC at 28 and 51 years old carried large deletion mutations in BRCA1 c.1863_1885del (p.His621GlnfsTer7). We previously published preliminary information on this in 2023 [26]. Furthermore, we detected novel PVs and LPs in BRIP1, CHEK2, MSH6, PALB2, and PTEN (Table 2) (File S1).…”

Risk-Stratified Breast Cancer Screening in Malaysia: Challenges and Opportunities

“…However, in addition to BRCA1 and BRCA2 , it has been reported that the mutation of the Apolipoprotein B mRNA-editing enzyme, the catalytic polypeptide-like (APOBEC3B) and tumor suppressor gene ( TP53 ) are associated with breast cancer and observed more commonly among Asian women than European women [ 8 , 9 ]. A recent study in Thailand identified the significance of PALB2 and ATM genetic mutations among breast cancer patients as well as BRCA1 and BRCA2 [ 10 ]. The pathogenic mutations of genes ( BRCA1, BRCA2, PALB2, APOBEC3B , and TP53 ) were reported to be associated with the occurrence of breast cancer among Malaysian and Singaporean women [ 11 ] and screening for BRCA1 , BRCA2 , TP53 , and PALB2 genes using blood and saliva samples is currently available in Malaysia [ 12 ].…”