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Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Human mutation, 2020-10, Vol.41 (10), p.1705-1721

2020

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Nature communications, 2018-10, Vol.9 (1), p.4083-7, Article 4083

2018

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Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Human mutation, 2022-12, Vol.43 (12), p.2328-2328

2022

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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer

The New England journal of medicine, 2023-03, Vol.388 (13), p.1181-1190

2023

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Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

Journal of medical genetics, 2023-06, Vol.60 (6), p.609-614

2023

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Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls

JNCI : Journal of the National Cancer Institute, 2020-04, Vol.112 (4), p.369-376

2020

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Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome

Human mutation, 2018-12, Vol.39 (12), p.1764-1773

2018

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Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing

Modern pathology, 2017-08, Vol.30 (8), p.1048-1068

2017

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Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants

JAMA oncology, 2022-06, Vol.8 (6), p.871

2022

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Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

Journal of Medical Genetics, 2012-03, Vol.49 (3), p.151-157

2012

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Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption

Genetics in medicine, 2022-04, Vol.24 (4), p.798-810

2022

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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human mutation, 2022-12, Vol.43 (12), p.2308-2323

2022

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Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease

American journal of human genetics, 2024-07, Vol.111 (7), p.1301-1315

2024

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Human mutation, 2008-11, Vol.29 (11), p.1282-1291

2008

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Identification of nine new susceptibility loci for endometrial cancer

Nature communications, 2018-08, Vol.9 (1), p.3166-12, Article 3166

2018

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Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2

Journal of medical genetics, 2024-05, Vol.61 (5), p.483-489

2024

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Nature genetics, 2014-02, Vol.46 (2), p.107-115

2014

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Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future Directions

Cancer epidemiology, biomarkers & prevention, 2019-07, Vol.28 (7), p.1095-1102

2019

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CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources

Journal of medical genetics, 2023-12, Vol.60 (12), p.1215-1217

2023

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Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

JNCI : Journal of the National Cancer Institute, 2015-09, Vol.107 (9), p.1

2015

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Rare variants in the ATM gene and risk of breast cancer

Breast cancer research : BCR, 2011-07, Vol.13 (4), p.R73-R73

2011

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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Human mutation, 2021-03, Vol.42 (3), p.223-236

2021

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Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

Gynecologic oncology, 2015-01, Vol.136 (1), p.87-93

2015

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Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer

Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome

Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Identification of nine new susceptibility loci for endometrial cancer

Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future Directions

CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Rare variants in the ATM gene and risk of breast cancer

Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for Population-Level Germline Mismatch Repair Gene Mutation Testing

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

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