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The performance of multi-gene panels for breast/ovarian cancer predisposition

Clinica chimica acta, 2023-01, Vol.539, p.151-161

2023

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PERCH: A Unified Framework for Disease Gene Prioritization

Human mutation, 2017-03, Vol.38 (3), p.243-251

Feng, Bing‐Jian

2017

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Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

Psycho-oncology (Chichester, England), 2018-06, Vol.27 (6), p.1530-1537

2018

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Multiplex gene‐panel testing for lung cancer patients

Pathology international, 2020-12, Vol.70 (12), p.921-931

2020

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Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel

Genes chromosomes & cancer, 2024-07, Vol.63 (7), p.e23257-n/a

2024

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A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically

Human mutation, 2020-01, Vol.41 (1), p.203-211

2020

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Patient decisions regarding cancer gene panel testing: An exploratory study

Journal of genetic counseling, 2024-10, Vol.33 (5), p.1103-1112

2024

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A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2192-2197

2022

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Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel

Clinical genetics, 2018-08, Vol.94 (2), p.232-238

2018

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Update on multi‐gene panel testing and communication of genetic test results

The breast journal, 2020-08, Vol.26 (8), p.1513-1519

2020

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Uptake of genetic counseling and multi‐gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing

Journal of genetic counseling, 2022-04, Vol.31 (2), p.470-478

2022

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Gene‐panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

Clinical genetics, 2018-03, Vol.93 (3), p.595-602

2018

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Ancestry‐specific hereditary cancer panel yields: Moving toward more personalized risk assessment

Journal of genetic counseling, 2020-08, Vol.29 (4), p.598-606

2020

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Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.608-614

2019

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Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations

International journal of cancer, 2015-03, Vol.136 (6), p.E559-E568

2015

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Recontact practices of cancer genetic counselors and an exploration of professional, legal, and ethical duty

Journal of genetic counseling, 2019-08, Vol.28 (4), p.836-846

2019

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Cancer Genetic Counseling and Testing in an Era of Rapid Change

Journal of genetic counseling, 2017-12, Vol.26 (6), p.1244-1253

2017

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Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants

Clinical genetics, 2017-09, Vol.92 (3), p.274-280

2017

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Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing

Journal of genetic counseling, 2018-09, Vol.27 (5), p.1210-1219

2018

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Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e630-n/a

2019

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Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families

Journal of genetic counseling, 2017-06, Vol.26 (3), p.480-490

2017

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Tumor mutational burden quantification from targeted gene panels: major advancements and challenges

Journal for immunotherapy of cancer, 2019-07, Vol.7 (1), p.183-183, Article 183

2019

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Somatic mutation of targeted sequencing identifies risk stratification in advanced ovarian clear cell carcinoma

Gynecologic oncology, 2024-12, Vol.191, p.56-66

2024

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Methods of measurement for tumor mutational burden in tumor tissue

Translational lung cancer research, 2018-12, Vol.7 (5), p.661-667

2018

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The performance of multi-gene panels for breast/ovarian cancer predisposition

PERCH: A Unified Framework for Disease Gene Prioritization

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

Multiplex gene‐panel testing for lung cancer patients

Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel

A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically

Patient decisions regarding cancer gene panel testing: An exploratory study

A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features

Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel

Update on multi‐gene panel testing and communication of genetic test results

Uptake of genetic counseling and multi‐gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing

Gene‐panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

Ancestry‐specific hereditary cancer panel yields: Moving toward more personalized risk assessment

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations

Recontact practices of cancer genetic counselors and an exploration of professional, legal, and ethical duty

Cancer Genetic Counseling and Testing in an Era of Rapid Change

Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants

Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing

Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach

Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families

Tumor mutational burden quantification from targeted gene panels: major advancements and challenges

Somatic mutation of targeted sequencing identifies risk stratification in advanced ovarian clear cell carcinoma

Methods of measurement for tumor mutational burden in tumor tissue

Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

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