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Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Cancers, 2021-08, Vol.13 (17), p.4344

2021

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Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2 , and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

Cancers, 2020-02, Vol.12 (2), p.378

2020

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Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Cancers, 2021-08, Vol.13 (16), p.4154

2021

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Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Neurogenetics, 2012-05, Vol.13 (2), p.141-145

2012

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Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

Neurology, 2017-01, Vol.88 (1), p.87

2017

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Screening of potential novel candidate genes in schwannomatosis patients

Human mutation, 2022-10, Vol.43 (10), p.1368-1376

2022

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

Journal of medical genetics, 2022-02, Vol.59 (2), p.115

2022

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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Human mutation, 2016-03, Vol.37 (3), p.250-256

2016

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Re‐evaluation of missense variant classifications in NF2

Human mutation, 2022-05, Vol.43 (5), p.643-654

2022

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Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

Genetics in medicine, 2021-10, Vol.23 (10), p.1969-1976

2021

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SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

Cancer genetics, 2014-09, Vol.207 (9), p.373-378

2014

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Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

Journal of medical genetics, 2011-04, Vol.48 (4), p.261-265

2011

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A deep intronic SMARCB1 variant associated with schwannomatosis

Clinical genetics, 2020-02, Vol.97 (2), p.376-377

2020

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Extended gene panel testing in lobular breast cancer

Familial cancer, 2022-04, Vol.21 (2), p.129-136

2022

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Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

Familial cancer, 2019-10, Vol.18 (4), p.445-449

2019

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Neurofibromatosis type 2: Multiple intra‐dermal tumors in a toddler

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1447-1449

2017

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Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.215-219

2012

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Frequent genetic and epigenetic abnormalities contribute to the deregulation of cytoglobin in non-small cell lung cancer

Human molecular genetics, 2006-07, Vol.15 (13), p.2038-2044

2006

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CpG island methylation phenotype (CIMP) in oral cancer: Associated with a marked inflammatory response and less aggressive tumour biology

Oral oncology, 2007-10, Vol.43 (9), p.878-886

2007

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Cyclin D1 ( CCND1) A870G gene polymorphism modulates smoking-induced lung cancer risk and response to platinum-based chemotherapy in non-small cell lung cancer (NSCLC) patients

Lung cancer (Amsterdam, Netherlands), 2006-03, Vol.51 (3), p.303-311

2006

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“CIMP” in head and neck cancer

British journal of oral & maxillofacial surgery, 2007, Vol.45 (7), p.e42-e43

2007

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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes: HUMAN MUTATION

Human mutation, 2016-03, Vol.37 (3), p.250-256

2016

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Cranial meningiomas in 411 NF2 patients with proven gene mutations: Clear positional effect of mutations, but absence of female severity effect on age at onset

Journal of medical genetics, 2011-01, Vol.48 (4)

2011

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A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma

BMJ case reports, 2014-11, Vol.2014, p.bcr2014203919

2014

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Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler

American journal of medical genetics. Part A, 2017, Vol.173 (5), p.1447-1449

2017

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Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2 , and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

Screening of potential novel candidate genes in schwannomatosis patients

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Re‐evaluation of missense variant classifications in NF2

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

A deep intronic SMARCB1 variant associated with schwannomatosis

Extended gene panel testing in lobular breast cancer

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

Neurofibromatosis type 2: Multiple intra‐dermal tumors in a toddler

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

Frequent genetic and epigenetic abnormalities contribute to the deregulation of cytoglobin in non-small cell lung cancer

CpG island methylation phenotype (CIMP) in oral cancer: Associated with a marked inflammatory response and less aggressive tumour biology

Cyclin D1 ( CCND1) A870G gene polymorphism modulates smoking-induced lung cancer risk and response to platinum-based chemotherapy in non-small cell lung cancer (NSCLC) patients

“CIMP” in head and neck cancer

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes: HUMAN MUTATION

Cranial meningiomas in 411 NF2 patients with proven gene mutations: Clear positional effect of mutations, but absence of female severity effect on age at onset

A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler

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