Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

• Published in: Breast cancer research : BCR Vol. 18; no. 1; p. 52
• Main Authors: Baert, Annelot, Depuydt, Julie, Van Maerken, Tom, Poppe, Bruce, Malfait, Fransiska, Storm, Katrien, van den Ende, Jenneke, Van Damme, Tim, De Nobele, Sylvia, Perletti, Gianpaolo, De Leeneer, Kim, Claes, Kathleen B. M., Vral, Anne
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 17.05.2016; BioMed Central
• Subjects: Alleles; Analysis; Breast cancer; Cell Cycle - genetics; Cell Cycle - radiation effects; Chromosomal Instability; Chromosomes, Human - radiation effects; Complications and side effects; DNA damage; Gene mutations; Genes, BRCA1; Genetic aspects; Heterozygote; Humans; Micronuclei, Chromosome-Defective - radiation effects; Micronucleus Tests; Mutation; Radiation Tolerance - genetics; DNA damage repair; Nonsense-mediated decay; BRCA1 mutations; Ionizing radiation; G2 micronucleus assay; Homologous recombination; Radiosensitivity indicator; G2/M cell-cycle checkpoint; Haploinsufficiency
• ISSN: 1465-542X; 1465-5411; 1465-542X
• DOI: 10.1186/s13058-016-0709-1

Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the DNA damage response pathway. The aim of this study was to...