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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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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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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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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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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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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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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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Response to Evans et al

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

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 Wang et al

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

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 ten Broeke et al

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

2019

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Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

Genetics in medicine, 2014-08, Vol.16 (8), p.588-593

2014

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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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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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Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients

Hereditary cancer in clinical practice, 2010-06, Vol.8 (1), p.6-6, Article 6

2010

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Germline multigene panel testing in acute and chronic pancreatitis

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

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

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

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

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

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

Response to Evans et al

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

Response to Wang et al

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

Response to ten Broeke et al

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

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

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

Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients

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