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Hereditary Predispositions to Myelodysplastic Syndrome

International journal of molecular sciences, 2016-06, Vol.17 (6), p.838

2016

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Germline DNMT3A mutation in familial acute myeloid leukaemia

Epigenetics, 2021-05, Vol.16 (5), p.567-576

2021

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High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer

Journal of clinical oncology, 2015-11, Vol.33 (31), p.3544-3549

2015

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DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high‐risk disease

American journal of hematology, 2019-07, Vol.94 (7), p.757-766

2019

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Frequency of Germline BRCA1/2 Mutations in Unselected Patients With Colorectal Cancer

Journal of clinical oncology, 2017-08, Vol.35 (22), p.2588-2588

2017

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Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy

European journal of haematology, 2023-01, Vol.110 (1), p.109-116

2023

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Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutation

American journal of hematology, 2020-02, Vol.95 (2), p.227-229

2020

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Improving the detection of patients with inherited predispositions to hematologic malignancies using next‐generation sequencing‐based leukemia prognostication panels

Cancer, 2018-07, Vol.124 (13), p.2704-2713

2018

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Can Microsatellite Status of Colorectal Cancer Be Reliably Assessed after Neoadjuvant Therapy?

Clinical cancer research, 2017-09, Vol.23 (17), p.5246-5254

2017

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Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC)

Clinical lymphoma, myeloma and leukemia, 2016-07, Vol.16 (7), p.417-428.e2

2016

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Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype

Leukemia & lymphoma, 2019-07, Vol.60 (8), p.2025-2033

2019

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High Prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer

Cancer prevention research (Philadelphia, Pa.), 2018-11, Vol.11 (11), p.679-686

2018

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Myeloid malignancies with somatic GATA 2 mutations can be associated with an immunodeficiency phenotype

Leukemia & lymphoma, 2019-08, Vol.60 (8), p.2025-2033

2019

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Hematologic malignancies and Li-Fraumeni syndrome

Cold Spring Harbor molecular case studies, 2019-02, Vol.5 (1), p.a003210

2019

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Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer

Cancer genetics, 2019-06, Vol.235-236, p.77-83

2019

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Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes

Familial cancer, 2014-06, Vol.13 (2), p.291-299

2014

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In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation

Cancer prevention research (Philadelphia, Pa.), 2017-10, Vol.10 (10), p.580-587

2017

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Identification of MSH2 inversion of exons 1–7 in clinical evaluation of families with suspected Lynch syndrome

Familial cancer, 2017-07, Vol.16 (3), p.357-361

2017

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Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry

Familial cancer, 2012-09, Vol.11 (3), p.441-447

2012

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Mo1111 Completion of Follow-up After Abnormal Screening Test for Lynch Syndrome: A Framework for Multi-Level Cancer Care Delivery

Gastroenterology (New York, N.Y. 1943), 2016-04, Vol.150 (4), p.S637-S638

2016

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Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes

Current genetic medicine reports, 2017, Vol.5 (2), p.59-65

2017

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Inherited Bone Failure Syndromes, Focus on the Haematological Manifestations: A Review

European Medical Journal (Chelmsford, England), 2017-08, Vol.2 (3), p.105-112

2017

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Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency

Familial cancer, 2016-10, Vol.15 (4), p.587-591

2016

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Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer

Cancer genetics, 2014-10, Vol.207 (10), p.495-502

2014

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Hereditary Predispositions to Myelodysplastic Syndrome

Next-Generation Sequencing of DDX41 in Myeloid Neoplasms Leads to Increased Detection of Germline Alterations

Germline DNMT3A mutation in familial acute myeloid leukaemia

High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer

DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high‐risk disease

Frequency of Germline BRCA1/2 Mutations in Unselected Patients With Colorectal Cancer

Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy

Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutation

Improving the detection of patients with inherited predispositions to hematologic malignancies using next‐generation sequencing‐based leukemia prognostication panels

Can Microsatellite Status of Colorectal Cancer Be Reliably Assessed after Neoadjuvant Therapy?

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC)

Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype

High Prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer

Myeloid malignancies with somatic GATA 2 mutations can be associated with an immunodeficiency phenotype

Hematologic malignancies and Li-Fraumeni syndrome

Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes

In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation

Identification of MSH2 inversion of exons 1–7 in clinical evaluation of families with suspected Lynch syndrome

Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry

Mo1111 Completion of Follow-up After Abnormal Screening Test for Lynch Syndrome: A Framework for Multi-Level Cancer Care Delivery

Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes

Inherited Bone Failure Syndromes, Focus on the Haematological Manifestations: A Review

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency

Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer

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