PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients

被引:5
作者
Siraj, Abdul K. K. [1 ]
Bu, Rong [1 ]
Parvathareddy, Sandeep Kumar [1 ]
Iqbal, Kaleem [1 ]
Azam, Saud [1 ]
Qadri, Zeeshan [1 ]
Al-Rasheed, Maha [1 ]
Haqawi, Wael [1 ]
Diaz, Mark [1 ]
Victoria, Ingrid G. G. [1 ]
Al-Badawi, Ismail A. A. [2 ]
Tulbah, Asma [3 ]
Al-Dayel, Fouad [3 ]
Ajarim, Dahish [4 ]
Al-Kuraya, Khawla S. S. [1 ]
机构
[1] King Faisal Specialist Hosp & Res Ctr, Res Ctr, Human Canc Genom Res, MBC98-16,POB 3354, Riyadh 11211, Saudi Arabia
[2] King Faisal Specialist Hosp & Res Ctr, Dept Obstet Gynecol, Riyadh 11211, Saudi Arabia
[3] King Faisal Specialist Hosp & Res Ctr, Dept Pathol, Riyadh 11211, Saudi Arabia
[4] King Faisal Specialist Hosp & Res Ctr, Oncol Ctr, Riyadh 11211, Saudi Arabia
关键词
FANCONI-ANEMIA; PANEL; GENE;
D O I
10.1038/s41598-023-34693-9
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
The 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.
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页数:7
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