@article{3101697,
    title = "Germline mutations in a clinic-based series of pregnancy associated breast cancer patients",
    author = "Zografos, E. and Korakiti, A.-M. and Andrikopoulou, A. and Rellias, I. and Dimitrakakis, C. and Marinopoulos, S. and Giannos, A. and Keramopoulos, A. and Bredakis, N. and Dimopoulos, M.-A. and Zagouri, F.",
    journal = "BMC Cancer",
    year = "2021",
    volume = "21",
    number = "1",
    publisher = "BioMed Central Ltd.",
    issn = "1471-2407",
    doi = "10.1186/s12885-021-08310-9",
    keywords = "BRCA1 protein;  checkpoint kinase 2;  BRCA1 protein;  BRCA1 protein, human;  BRIP1 protein, human;  checkpoint kinase 2;  CHEK2 protein, human;  Fanconi anemia protein;  RNA helicase;  tumor marker, adult;  Article;  breast cancer;  BRIP1 gene;  cancer patient;  cancer susceptibility;  CHEK2 gene;  clinical article;  cohort analysis;  controlled study;  demography;  family history;  female;  gene identification;  genetic screening;  genetic susceptibility;  genetic variability;  germline mutation;  heterozygote;  histopathology;  human;  middle aged;  oncogene;  pathogenicity;  patient care;  pregnancy;  prevalence;  tumor suppressor gene;  breast tumor;  dna mutational analysis;  genetic predisposition;  genetics;  germline mutation;  pregnancy;  pregnancy complication, Adult;  Biomarkers, Tumor;  BRCA1 Protein;  Breast Neoplasms;  Checkpoint Kinase 2;  Cohort Studies;  DNA Mutational Analysis;  Fanconi Anemia Complementation Group Proteins;  Female;  Genetic Predisposition to Disease;  Genetic Testing;  Germ-Line Mutation;  Humans;  Middle Aged;  Pregnancy;  Pregnancy Complications, Neoplastic;  Prevalence;  RNA Helicases",
    abstract = "Background: Pregnancy-associated breast cancer (PABC) defined as breast cancer diagnosed during gestation, lactation or within 1 year after delivery, represents a truly challenging situation with significantly increasing incidence rate. The genomic background of PABC has only recently been addressed while the underlying mechanisms of the disease still remain unknown. This analysis aims to further elucidate the frequency of PABC cases attributable to genetic predisposition and identify specific cancer susceptibility genes characterizing PABC. Methods: A comprehensive 94-cancer gene panel was implemented in a cohort of 20 PABC patients treated in our clinic and descriptive correlation was performed among the results and the patients’ clinicopathological data. Results: In the present study, 35% of PABC patients tested carried pathogenic mutations in two known cancer predisposition genes (BRCA1 and CHEK2). In total, 30% of the patients carried BRCA1 pathogenic variants. An additional 5% carried pathogenic variants in the CHEK2 gene. Variants of unknown/uncertain significance (VUS) in breast cancer susceptibility genes BRCA2, CHEK2 and BRIP1 were also identified in three different PABC patients (15%). Not all patients carrying germline mutations reported known family history of cancer. Conclusions: Genetic testing should be considered as an option for PABC patients since the disease is highly associated with genetic susceptibility among other predisposing factors. Germline mutation identification may further modify PABC management approach and improve the prognostic outcome. © 2021, The Author(s)."
}