Author:
Siraj Abdul K.,Bu Rong,Parvathareddy Sandeep Kumar,Iqbal Kaleem,Azam Saud,Qadri Zeeshan,Al-Rasheed Maha,Haqawi Wael,Diaz Mark,Victoria Ingrid G.,Al-Badawi Ismail A.,Tulbah Asma,Al-Dayel Fouad,Ajarim Dahish,Al-Kuraya Khawla S.
Abstract
AbstractThe PALB2 gene is a breast cancer (BC) and ovarian cancer (OC) predisposition gene involved in the homologous recombination repair pathway. However, the prevalence and clinicopathological association of PALB2 pathogenic/likely pathogenic (PV/LPV) variants in Middle East is still not fully explored. Total 918 BC/OC patients from Saudi Arabia were selected for PALB2 mutations screening using capture sequencing technology. Five heterozygous PVs or LPVs were identified in six cases, accounting for 0.65% (6/918) of entire cohort. Two cases (33.3%) harbored PVs and four cases (66.7%) carried LPVs. Four PVs/LPVs (80%) were frameshift along with one novel splicing LPV (c.2835-2_2835-1delinsTT). One recurrent LPV (c.3425delT: p.L1142fs) was identified in two cases. All six affected carriers have breast cancer diagnosis with median age of 39.5 years (range 34–49 years). Only two cases (33%) have documented family history of cancer. Breast cancer phenotype was invasive ductal unilateral cancer in all cases with 66.7% of hormone receptor positive and 16% of triple negative tumors. Germline PVs/LPVs in the PALB2 gene were observed in low frequency of 0.65% in Saudi BC and/or OC. Our study confirms one recurrent LPV and one novel LPV in Saudi breast cancer patients.
Publisher
Springer Science and Business Media LLC
Reference37 articles.
1. Ferlay, J. et al. Global cancer observatory: cancer today. Lyon, France: Int. Agency Res. Cancer 3, 2019 (2018).
2. Sanyour, R. A. & Abdullah, M. Real time data analysis and visualization for the breast cancer disease. Period. Eng. Nat. Sci. 7, 395–407 (2019).
3. Yoshida, R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer 28, 1167–1180. https://doi.org/10.1007/s12282-020-01148-2 (2021).
4. Yamauchi, H. & Takei, J. Management of hereditary breast and ovarian cancer. Int. J. Clin. Oncol. 23, 45–51. https://doi.org/10.1007/s10147-017-1208-9 (2018).
5. El Ansari, F. Z. et al. Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC). BMC Cancer 20, 747. https://doi.org/10.1186/s12885-020-07250-0 (2020).
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献