Martin Mateju

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Large genomic rearrangements (LGR) represent substantial proportion of pathogenic mutations in the BRCA1 gene, whereas the frequency of rearrangements in the BRCA2 gene is low in many populations. We screened for LGRs in BRCA1 and BRCA2 genes by multiplex ligation-dependent probe amplification (MLPA) in 521 unrelated patients negative for BRCA1/2 point(More)
The two major susceptibility genes, BRCA1 and BRCA2, are involved in hereditary breast and ovarian cancer syndrome. Early detection of mutation carriers has crucial clinical importance, as it allows identification of women who may benefit from intensive clinical follow-up or prophylactic surgery. Generally accepted inclusion criteria for BRCA1/2 mutation(More)
To the Editor, The NBN (formerly NBS1) gene (OMIM*602667) is located on chromosome 8q21 and encodes a 754-amino acid protein known as nibrin. Nibrin is a component of the MRE11/RAD50/NBN (MRN) complex and is involved in the DNA double-strand break repair, telomere maintenance, and cell-cycle checkpoint control. Individuals homozygous for deleterious(More)
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