2023-04-072023-04-072016-08-16Çeçener, G. vd. (2016). "Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey". Molecular Biology Reports, 43(11), 1273-1284.0301-48511573-4978https://doi.org/10.1007/s11033-016-4061-4https://link.springer.com/article/10.1007/s11033-016-4061-4http://hdl.handle.net/11452/32250The PALB2 gene, has been accepted as a moderate-penetrance gene associated with breast cancer susceptibility and this gene product is involved in the DNA damage repair pathway via co-localization with BRCA2. Germline PALB2 mutations are associated with an increased breast cancer risk. However, the prevalence of the diverse types of PALB2 variants depend on the population. Thus, the aim of the present study was to determine, for the first time, the prevalence of PALB2 variants in a Turkish population of BRCA1/BRCA2-negative early-onset patients with breast cancer. In total, 223 Turkish patients with BRCA1/BRCA2 negative early-onset breast cancer and 60 unaffected women were included in the study. All the coding exons and intron/exon boundaries of PALB2 were subjected to mutational analysis by heteroduplex analysis (HDA) and DNA sequencing. Eighteen PALB2 variants were found in breast cancer patients within the Turkish population. Three variants (c.271G>A, c.404C>A and c.2981T>A) have not been previously reported. In addition, nine intronic variants were described, and this study is the first to describe the c.1685-44T>A intronic variant. The prevalence of possible pathogenic PALB2 variants was found to be 4.03 % in BRCA1/2-negative Turkish patients with early-onset breast cancer. Different variants of PALB2 have been reported in the literature, and the prevalence of these variants could different for each population. This is the first study to investigate the prevalence of PALB2 variants in Turkish patients with early-onset breast cancer.eninfo:eu-repo/semantics/closedAccessBiochemistry & molecular biologyEarly-onset breast cancerModerate-penetrance genesPALB2 geneTurkish populationAnd/or ovarian-cancerGermline mutationsFanconi-anemiaSusceptibility allelesTruncating mutationsBRCA2 mutationsFamiliesWomenIdentificationRelativesAdultAge of onsetBRCA1 proteinBRCA2 proteinBreast neoplasmsDNA mutational analysisEuropean continental ancestry groupFemaleGenetic association studiesGenetic predisposition to diseaseGerm-line mutationHumansMiddle agedNuclear proteinsPolymorphism, single nucleotideSequence analysis, DNATumor suppressor proteinsTurkeyYoung adultArticle0003876711000102-s2.0-8498464707112731284431127573125Biochemistry & molecular biologyFamilial Breast Cancer; Partner and Localizer of BRCA2; Breast NeoplasmsBRCA1 proteinBRCA1 protein, humanBRCA2 proteinBRCA2 protein, humanNuclear proteinPALB2 protein, humanTumor suppressor proteinAdultAmino acid substitutionArticleBreast cancerCancer riskControlled studyDNA sequenceExonFemaleGeneGene productGenetic associationGenetic variabilityHeteroduplex analysisHumanIntronMajor clinical studyMissense mutationMutation rateMutational analysisOncogeneOnset agePALB2 genePenetranceTumor suppressor geneTurk (people)Breast tumorCaucasianDna mutational analysisGenetic association studyGenetic predispositionGeneticsGermline mutationMiddle agedProceduresSingle nucleotide polymorphismTurkeyYoung adult