Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey

Autor: G. Cecener, Güney Eskiler, Gamze, U. Egeli, B. Tunca, A. Alemdar, S. Gokgoz, I. Tasdelen
Přispěvatelé: Cecener, G, Eskiler, GG, Egeli, U, Tunca, B, Alemdar, A, Gokgoz, S, Tasdelen, I, Sakarya Üniversitesi/Tıp Fakültesi/Temel Tıp Bilimleri Bölümü, Güney Eskiler, Gamze, Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı., Çeçener, Gülşah, Eskiler, Gamze Güney, Egeli, Ünal, Tunca, Berrin, Alemdar, Adem, Gökgöz, Şehsuvar, Taşdelen, İsmet, AAP-9988-2020, AAB-6011-2022, ABI-6078-2020, HIZ-7332-2022, AAH-1420-2021
Rok vydání: 2016
Předmět:
0301 basic medicine
Identification
Familial Breast Cancer
Partner and Localizer of BRCA2
Breast Neoplasms
Amino acid substitution
Turkey
Biochemistry & molecular biology
Intron
DNA Mutational Analysis
Penetrance
Early-onset breast cancer
Procedures
Gene
Germline
Turkish population
Heteroduplex analysis
Families
Cancer risk
Exon
Breast cancer
0302 clinical medicine
Germline mutation
Missense mutation
Tumor suppressor gene
Age of Onset
skin and connective tissue diseases
Genetics
BRCA2 mutations
education.field_of_study
Susceptibility alleles
BRCA1 Protein
Nuclear Proteins
General Medicine
Middle Aged
030220 oncology & carcinogenesis
Female
PALB2 gene
Fanconi Anemia Complementation Group N Protein
Human
Adult
Mutation rate
PALB2
Population
Nuclear protein
DNA sequence
Breast tumor
Major clinical study
Caucasian
Biology
Polymorphism
Single Nucleotide
Article
White People
Gene product
Young Adult
03 medical and health sciences
And/or ovarian-cancer
medicine
Humans
Women
Genetic Predisposition to Disease
Germline mutations
education
PALB2 protein
human
Molecular Biology
Oncogene
Genetic Association Studies
Germ-Line Mutation
Truncating mutations
BRCA1 protein
human
Genetic association study
Moderate-penetrance genes
BRCA2 Protein
Genetic predisposition
Tumor Suppressor Proteins
Sequence Analysis
DNA
Mutational analysis
medicine.disease
Tumor suppressor protein
Relatives
BRCA2 protein
human
Single nucleotide polymorphism
Onset age
030104 developmental biology
Fanconi-anemia
Genetic association
Turk (people)
Genetic variability
Controlled study
European continental ancestry group
Zdroj: Molecular Biology Reports. 43:1273-1284
ISSN: 1573-4978
0301-4851
DOI: 10.1007/s11033-016-4061-4
Popis: The 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. British Association for Psychopharmacology
Databáze: OpenAIRE
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