A novel germline mutation of the PALB gene in a young Yakut breast cancer woman
Автор: Gervas P.A., Molokov A.Yu., Zarubin A.A., Ivanova A.A., Tikhonov D.G., Kipriyanova N.S., Egorov A.N., Zhuikova L.D., Shefer N.A., Topolnitskiy E.B., Belyavskaya V.A., Pisareva L.F., Choynzonov E.L., Cherdyntseva N.V.
Журнал: Сибирский онкологический журнал @siboncoj
Рубрика: Лабораторные и экспериментальные исследования
Статья в выпуске: 4 т.21, 2022 года.
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Background. Breast cancer (Bc) is the most common female malignancy worldwide. partner and localizer of BRCA2 gene ( PALB2 ) is directly involved in dNa damage response. germline mutation in PALB2 has been identified in breast cancer and familial pancreatic cancer cases, accounting for approximately 1-2% and 3-4%, respectively. the goal of this report was to describe new PALB2 mutation in a young Yakut breast cancer patient with family history of cancer. material and methods. genomic dNa were isolated from blood samples and used to prepare libraries using a capture-based target enrichment kit, Hereditary cancer solution™ (sopHia geNetics, switzerland), covering 27 genes ( ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2 ). paired-end sequencing (2 × 150 bp) was conducted using Nextseq 500 system (illumina, usa). Results. Here we describe a case of a never-before-reported mutation in the PALB gene that led to the early onset breast cancer. We report the case of a 39-year-old breast cancer Yakut woman with a family history of pancreatic cancer. Bioinformatics analysis of the Ngs data revealed the presence of the new PALB2 gene germinal frameshift deletion (Nm_024675:exon1:c.47dela:p.K16fs). in accordance with dbpubmed clinVar, new mutation is located in codon of the PALB2 gene, where the likely pathogenic donor splice site mutation (Nm_024675.3:c.48+1delg) associated with hereditary cancer-predisposing syndrome has been earlier described. Conclusion. We found a new never-before-reported mutation in palB2 gene, which probably associated with early onset breast cancer in Yakut indigenous women with a family history of pancreatic cancer.
Germline mutation, breast cancer, asian ancestry ethnic groups in Russia, yakut
Короткий адрес: https://sciup.org/140295754
IDR: 140295754 | DOI: 10.21294/1814-4861-2022-21-4-72-79
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