Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Mesman RLS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Meulemans L et al.
Cancer Research, 2020
Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives.
Nilsson MP et al.
Journal of Community Genetics, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2
Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer.
Nilsson MP et al.
Familial Cancer, 2017
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.
Winter C et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016
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