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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Frontiers in genetics, 2018-09, Vol.9, p.366-366

2018

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Genomic Mapping of Splicing-Related Genes Identify Amplifications in LSM1, CLNS1A, and ILF2 in Luminal Breast Cancer

Cancers, 2021-08, Vol.13 (16), p.4118

2021

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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Nature genetics, 2020-01, Vol.52 (1), p.56-73

2020

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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Genetics in medicine, 2020-10, Vol.22 (10), p.1653-1666

2020

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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

American journal of human genetics, 2023-07, Vol.110 (7), p.1046-1067

2023

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BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

PLoS genetics, 2018-12, Vol.14 (12), p.e1007752-e1007752

2018

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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Cancer epidemiology, biomarkers & prevention, 2012-01, Vol.21 (1), p.134-147

2012

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Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

International journal of cancer, 2019-07, Vol.145 (2), p.401-414

2019

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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

PLoS genetics, 2013, Vol.9 (3), p.e1003212-e1003212

2013

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Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

PloS one, 2018-09, Vol.13 (9), p.e0203885-e0203885

2018

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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

JNCI : Journal of the National Cancer Institute, 2016-02, Vol.108 (2), p.djv315

2016

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A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Nature genetics, 2008-05, Vol.40 (5), p.623-630

2008

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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Cancer research (Chicago, Ill.), 2010-12, Vol.70 (23), p.9742-9754

2010

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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Nature communications, 2016-09, Vol.7 (1), p.12675-22, Article 12675

2016

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Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

Human molecular genetics, 2012-07, Vol.21 (13), p.2889-2898

2012

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Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Genetic epidemiology, 2020-07, Vol.44 (5), p.442-468

2020

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Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2

Genes, 2023-02, Vol.14 (2), p.502

2023

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Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

Breast cancer research : BCR, 2023-06, Vol.25 (1), p.72-72, Article 72

2023

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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Breast cancer research : BCR, 2016-11, Vol.18 (1), p.112-112, Article 112

2016

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Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Genome medicine, 2022-05, Vol.14 (1), p.51-17, Article 51

2022

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P690: Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants

Genetics in Medicine Open, 2024, Vol.2, p.101594, Article 101594

2024

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Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

Cancers, 2022-06, Vol.14 (12), p.2960

2022

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Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Genetics in medicine, 2020-08, Vol.22 (8), p.1427-1428

2020

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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Human molecular genetics, 2009-11, Vol.18 (22), p.4442-4456

2009

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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Genomic Mapping of Splicing-Related Genes Identify Amplifications in LSM1, CLNS1A, and ILF2 in Luminal Breast Cancer

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

P690: Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

First international workshop of the ATM and cancer risk group (4-5 December 2019)

Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

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