A novel germline mutation of the <i>PALB</i> gene in a young Yakut breast cancer woman

Background . Breast cancer (BC) is the most common female malignancy worldwide. partner and localizer of BRCA2 gene ( PALB2 ) directly involved in DNA damage response. germline mutation has been identified breast familial pancreatic cases, accounting for approximately 1–2% 3–4%, respectively. goal this report was to describe new a young Yakut patient with family history cancer. Material methods Genomic were isolated from blood samples used prepare libraries using 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 XRCC2 ). paired-end sequencing (2 × 150 bp) conducted NextSeq 500 system (Illumina, USA). Results Here we case never-before-reported PALB that led early onset We 39-year-old woman Bioinformatics analysis NGS data revealed presence germinal frameshift deletion (NM_024675:exon1:c.47dela:p.K16fs). accordance dbPubMed ClinVar, located codon gene, where likely pathogenic donor splice site (NM_024675.3:c.48+1delG) associated hereditary cancer-predisposing syndrome earlier described. Conclusion found which probably indigenous women