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Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

JNCI : Journal of the National Cancer Institute, 2018-08, Vol.110 (8), p.863-870

2018

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A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Genetics in medicine, 2020-02, Vol.22 (2), p.407-415

2020

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Somatic TP53 variants frequently confound germ-line testing results

Genetics in medicine, 2018-08, Vol.20 (8), p.809-816

2018

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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

American journal of human genetics, 2021-03, Vol.108 (3), p.458-468

2021

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Genotype–phenotype associations among panel-based TP53+ subjects

Genetics in medicine, 2019-11, Vol.21 (11), p.2478-2484

2019

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Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition

Cancer medicine (Malden, MA), 2022-04, Vol.11 (8), p.1745-1752

2022

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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

Npj genomic medicine, 2022-08, Vol.7 (1), p.49-49, Article 49

2022

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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

Npj genomic medicine, 2022-06, Vol.7 (1), p.35-35, Article 35

2022

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False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

Genetics in medicine, 2018-12, Vol.20 (12), p.1515-1521

2018

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Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Journal of clinical oncology, 2020-03, Vol.38 (7), p.674-685

2020

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Abstract P2-09-19: Inequitable access to genetic testing leads to missed screening and prevention opportunities for individuals at risk for hereditary breast and ovarian cancer

Cancer research (Chicago, Ill.), 2022-02, Vol.82 (4_Supplement), p.P2-P2-09-19

2022

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BAP1 tumor predisposition syndrome: Preliminary data from a laboratory-based multigene panel testing cohort

Journal of clinical oncology, 2017-02, Vol.35 (6_suppl), p.490-490

2017

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Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield

The journal of clinical endocrinology and metabolism, 2022-04, Vol.107 (5), p.e1917-e1923

2022

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Closing the gap: Trends in inconclusive rates on hereditary cancer testing across racial/ethnic groups

Journal of clinical oncology, 2021-05, Vol.39 (15_suppl), p.10525-10525

2021

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Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

JNCI : Journal of the National Cancer Institute, 2020-12, Vol.112 (12), p.1242-1250

2020

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EPID-16. HEREDITARY BRAIN TUMORS ARE MORE COMMON THAN YOU THINK: GERMLINE MUTATIONS IN BENIGN AND MALIGNANT PRIMARY BRAIN TUMORS

Neuro-oncology (Charlottesville, Va.), 2017-11, Vol.19 (suppl_6), p.vi72-vi72

2017

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Increased detection of germline cancer susceptibility mutations subsequent to tumor profiling

Journal of clinical oncology, 2018-05, Vol.36 (15_suppl), p.e13613-e13613

2018

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Abstract P2-09-03: Pathogenic variants among female breast cancer patients with a subsequent cancer demonstrate preventable cancer burden

Cancer research (Chicago, Ill.), 2022-02, Vol.82 (4_Supplement), p.P2-P2-09-03

2022

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Abstract P6-08-35: Impact of multigene panel testing on medical management: Preliminary pre- and post-test clinician survey results

Cancer research (Chicago, Ill.), 2020-02, Vol.80 (4_Supplement), p.P6-P6-08-35

2020

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Abstract PD10-07: Rna genetic testing improves detection of patients with hereditary breast cancer

Cancer research (Chicago, Ill.), 2021-02, Vol.81 (4_Supplement), p.PD10-07-PD10-07

2021

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Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment

Journal of clinical oncology, 2022-12, Vol.40 (35), p.4083-4094

2022

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Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Cancer, 2022-03, Vol.128 (6), p.1275-1283

2022

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Diagnosing hereditary cancer predisposition in men with prostate cancer

Genetics in medicine, 2020-09, Vol.22 (9), p.1517-1523

2020

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Gender disparity: Overlooking hereditary prostate cancer

Journal of clinical oncology, 2017-02, Vol.35 (6_suppl), p.85-85

2017

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Importance of genetic testing for patients with multiple colorectal cancer primaries

Journal of clinical oncology, 2017-02, Vol.35 (4_suppl), p.528-528

2017

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Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Somatic TP53 variants frequently confound germ-line testing results

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

Genotype–phenotype associations among panel-based TP53+ subjects

Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Abstract P2-09-19: Inequitable access to genetic testing leads to missed screening and prevention opportunities for individuals at risk for hereditary breast and ovarian cancer

BAP1 tumor predisposition syndrome: Preliminary data from a laboratory-based multigene panel testing cohort

Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield

Closing the gap: Trends in inconclusive rates on hereditary cancer testing across racial/ethnic groups

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

EPID-16. HEREDITARY BRAIN TUMORS ARE MORE COMMON THAN YOU THINK: GERMLINE MUTATIONS IN BENIGN AND MALIGNANT PRIMARY BRAIN TUMORS

Increased detection of germline cancer susceptibility mutations subsequent to tumor profiling

Abstract P2-09-03: Pathogenic variants among female breast cancer patients with a subsequent cancer demonstrate preventable cancer burden

Abstract P6-08-35: Impact of multigene panel testing on medical management: Preliminary pre- and post-test clinician survey results

Abstract PD10-07: Rna genetic testing improves detection of patients with hereditary breast cancer

Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Diagnosing hereditary cancer predisposition in men with prostate cancer

Gender disparity: Overlooking hereditary prostate cancer

Importance of genetic testing for patients with multiple colorectal cancer primaries

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