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Open AccessUnder-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients
Diagnostic screening for pathogenic variants in breast cancer susceptibility genes, including BRCA1, BRCA2, PALB2, PTEN and TP53, may be offered to New Zealanders from suspected high-risk breast (and ovarian) can...
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Open AccessNanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skip** events
Laboratory assays evaluating the effect of DNA sequence variants on BRCA1 mRNA splicing may contribute to classification by providing molecular evidence. However, our knowledge of normal and aberrant BRCA1 splici...
