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Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers

JAMA oncology, 2019-09, Vol.5 (9), p.1325

2019

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Germline multigene panel testing in acute and chronic pancreatitis

PloS one, 2024-08, Vol.19 (8), p.e0307076

2024

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MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

Genetics in medicine, 2018-10, Vol.20 (10), p.1167-1174

2018

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Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

Hereditary cancer in clinical practice, 2019-07, Vol.17 (1), p.19-19, Article 19

2019

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Gastric adenomas in familial adenomatous polyposis are common, but subtle, and have a benign course

Hereditary cancer in clinical practice, 2014-02, Vol.12 (1), p.4-4, Article 4

2014

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Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

Clinical cancer research, 2022-09, Vol.28 (17), p.3742-3751

2022

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S127 Prevalence of CFTR Pathogenic Variants in Pancreatitis: A Systematic Review and Meta-Analysis

The American journal of gastroenterology, 2023-10, Vol.118 (10S), p.S103-S103

2023

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S138 The Cystic Fibrosis Transmembrane Conductance Regulator Gene and the Risk of Pancreatic Cancer: A Systematic Review

The American journal of gastroenterology, 2023-10, Vol.118 (10S), p.S108-S108

2023

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A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome

Genetics in medicine, 2014-09, Vol.16 (9), p.711-716

2014

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Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3121-3125

2022

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Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study

Journal of genetic counseling, 2011-08, Vol.20 (4), p.327-329

2011

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Response to Evans et al

Genetics in medicine, 2019-08, Vol.21 (8), p.1880-1881

2019

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Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Cancer research (Chicago, Ill.), 2023-08, Vol.83 (15), p.2557-2571

2023

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Response to Wang et al

Genetics in medicine, 2019-09, Vol.21 (9), p.2158-2158

2019

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Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer

Familial cancer, 2022-10, Vol.21 (4), p.415-422

2022

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Response to ten Broeke et al

Genetics in medicine, 2019-01, Vol.21 (1), p.258-259

2019

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Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Genetics in medicine, 2019-07, Vol.21 (7), p.1507-1516

2019

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Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis

Familial cancer, 2019-04, Vol.18 (2), p.203-209

2019

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Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels

Cancer genetics, 2022-08, Vol.266-267, p.86-89

2022

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Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing

Cancer genetics, 2020-08, Vol.246-247, p.12-17

2020

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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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Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis

Annals of surgical oncology, 2018-11, Vol.25 (12), p.3556-3562

2018

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Patterns of germline and somatic testing after universal tumor screening for Lynch syndrome: A clinical practice survey of active members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer

Journal of genetic counseling, 2022-08, Vol.31 (4), p.949-955

2022

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Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers

Germline multigene panel testing in acute and chronic pancreatitis

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

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

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

Gastric adenomas in familial adenomatous polyposis are common, but subtle, and have a benign course

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

S127 Prevalence of CFTR Pathogenic Variants in Pancreatitis: A Systematic Review and Meta-Analysis

S138 The Cystic Fibrosis Transmembrane Conductance Regulator Gene and the Risk of Pancreatic Cancer: A Systematic Review

A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review

Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study

Response to Evans et al

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Response to Wang et al

Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer

Response to ten Broeke et al

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis

Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels

Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing

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

Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis

Patterns of germline and somatic testing after universal tumor screening for Lynch syndrome: A clinical practice survey of active members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer

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