Associated Papers
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › BRCA2
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
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2
Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.
Aljarf R et al.
Scientific Reports, 2022
35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet5
A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans.
Goebel K et al.
Veterinary Medicine and Science, 2017
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Fackenthal JD et al.
Journal of Medical Genetics, 2016
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
Sanz DJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010
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