The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

Creation of an international registry to support discovery in schwannomatosis

(2016) K. L. Ostrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epithelioid Schwannomas

(2016) Jesse Hart et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Multifocal nerve lesions andLZTR1germline mutations in segmental schwannomatosis

(2016) Said Farschtschi et al.   ANNALS OF NEUROLOGY

MYC interaction with the tumor suppressive SWI/SNF complex member INI1 regulates transcription and cellular transformation

(2016) Angelina Stojanova et al.   CELL CYCLE

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

(2016) Theo J.M. Hulsebos et al.   GENES CHROMOSOMES & CANCER

Gene of the month:SMARCB1

(2016) Sangeetha N Kalimuthu et al.   JOURNAL OF CLINICAL PATHOLOGY

Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation

(2016) Gautam U. Mehta et al.   JOURNAL OF NEUROSURGERY

Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution

(2016) Peng Li et al.   JOURNAL OF NEUROSURGERY-SPINE

The genomic landscape of schwannoma

(2016) Sameer Agnihotri et al.   NATURE GENETICS

Combined inhibition of DDR1 and Notch signaling is a therapeutic strategy for KRAS-driven lung adenocarcinoma

(2016) Chiara Ambrogio et al.   NATURE MEDICINE

Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis

(2016) Jaishri O. Blakeley et al.   NEURO-ONCOLOGY

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

(2016) Miriam J. Smith et al.   NEUROLOGY

Report of a patient with a constitutional missense mutation inSMARCB1, Coffin-Siris phenotype, and schwannomatosis

(2015) Nathan Gossai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SWI/SNF Chromatin Remodeling and Human Malignancies

(2015) Julien Masliah-Planchon et al.   Annual Review of Pathology-Mechanisms of Disease

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb

(2015) Elisabeth Castellanos et al.   BMC Medical Genomics

Familial schwannomatosis with a germline mutation of SMARCB1 in Japan

(2015) Katsunori Asai et al.   Brain Tumor Pathology

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

(2015) Laura Gigante et al.   Familial Cancer

Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

(2015) Melanie Spyra et al.   GENES CHROMOSOMES & CANCER

Is there a link between COQ6 and schwannomatosis?

(2015) Eva Trevisson et al.   GENETICS IN MEDICINE

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis

(2015) Irene Paganini et al.   HUMAN PATHOLOGY

Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2

(2015) Stavros M Stivaros et al.   JOURNAL OF MEDICAL GENETICS

Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma

(2015) Jian Wu et al.   JOURNAL OF NEURO-ONCOLOGY

Functional analysis of a chromosomal deletion associated with myelodysplastic syndromes using isogenic human induced pluripotent stem cells

(2015) Andriana G Kotini et al.   NATURE BIOTECHNOLOGY

Rhabdoid Tumor Predisposition Syndrome

(2015) Simone T. Sredni et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis

(2015) Mark D. Allen et al.   STRUCTURE

Germline and somatic mutations in meningiomas

(2015) Miriam J. Smith   Cancer Genetics

Atypical teratoid rhabdoid tumors: a population-based clinical outcomes study involving 174 patients from the Surveillance, Epidemiology, and End Results database (1973–2010)

(2015) Ronald Chamberlain et al.   Cancer Management and Research

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

(2014) Sonja Hutter et al.   ACTA NEUROPATHOLOGICA

Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors

(2014) Theo J. M. Hulsebos et al.   ACTA NEUROPATHOLOGICA

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

(2014) Brigitte C. Widemann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SWI/SNF chromatin remodeling complexes and cancer

(2014) Jaclyn A. Biegel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

SMARCB1 Involvement in the Development of Leiomyoma in a Patient With Schwannomatosis

(2014) Theo J.M. Hulsebos et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Expanding the mutational spectrum of LZTR1 in schwannomatosis

(2014) Irene Paganini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis

(2014) Keqiang Zhang et al.   GENETICS IN MEDICINE

Application of COLD-PCR for Improved Detection of NF2 Mosaic Mutations

(2014) Irene Paganini et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Functional Annotation of Proteome Encoded by Human Chromosome 22

(2014) Sneha M. Pinto et al.   JOURNAL OF PROTEOME RESEARCH

Evidence of polyclonality in neurofibromatosis type 2–associated multilobulated vestibular schwannomas

(2014) Ramita Dewan et al.   NEURO-ONCOLOGY

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

Pathology and diagnosis of SMARCB1-deficient tumors

(2014) Ashley S. Margol et al.   Cancer Genetics

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

(2014) Miriam J. Smith et al.   Cancer Genetics

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

(2013) Scott R. Plotkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Schwannomatosis: The Overlooked Neurofibromatosis?

(2013) Nicholas A. Koontz et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

SNF5 Reexpression in Malignant Rhabdoid Tumors Regulates Transcription of Target Genes by Recruitment of SWI/SNF Complexes and RNAPII to the Transcription Start Site of Their Promoters

(2013) Yasumichi Kuwahara et al.   MOLECULAR CANCER RESEARCH

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

The integrated landscape of driver genomic alterations in glioblastoma

(2013) Veronique Frattini et al.   NATURE GENETICS

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

(2013) Miriam J Smith et al.   NATURE GENETICS

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors

(2012) Douglas R. Stewart et al.   GENES CHROMOSOMES & CANCER

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

(2012) M. J. Smith et al.   HUMAN MOLECULAR GENETICS

Atypical teratoid/rhabdoid tumor with 26-year overall survival

(2012) Junko Takahashi-Fujigasaki et al.   Journal of Neurosurgery-Pediatrics

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

(2012) German Melean et al.   NEUROGENETICS

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients

(2012) V. L. Merker et al.   ONCOLOGIST

A cluster of cooperating tumor-suppressor gene candidates in chromosomal deletions

(2012) W. Xue et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent Hemizygous Deletions in Cancers May Optimize Proliferative Potential

(2012) N. L. Solimini et al.   SCIENCE

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

(2011) Miriam J. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

INI1-Deficient Tumors

(2011) Travis J. Hollmann et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Epithelioid Malignant Peripheral Nerve Sheath Tumor Arising in a Schwannoma, in a Patient With “Neuroblastoma-like” Schwannomatosis and a Novel Germline SMARCB1 Mutation

(2011) Jodi M. Carter et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

(2011) Guillaume Rousseau et al.   BMC Neurology

Pathogenesis and Consequences of Uniparental Disomy in Cancer

(2011) H. Makishima et al.   CLINICAL CANCER RESEARCH

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

(2011) F. Bourdeaut et al.   CLINICAL CANCER RESEARCH

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells

(2011) Angelika C. Roehl et al.   HUMAN MUTATION

Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients

(2011) Scott R. Plotkin et al.   JOURNAL OF NEUROSURGERY-SPINE

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri

(2011) Pepijn van den Munckhof et al.   NEUROGENETICS

The role of SMARCB1/INI1 in the development of rhabdoid tumors

(2010) Charles Roberts et al.   CANCER BIOLOGY & THERAPY

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

(2010) Carles Garcia-Linares et al.   HUMAN MUTATION

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

(2010) I. Christiaans et al.   JOURNAL OF MEDICAL GENETICS

SMARCB1 mutations are not a common cause of multiple meningiomas

(2010) K. D. Hadfield et al.   JOURNAL OF MEDICAL GENETICS

Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up

(2010) Augusto Gonzalvo et al.   JOURNAL OF NEUROSURGERY

Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway

(2010) Zainab Jagani et al.   NATURE MEDICINE

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas

(2010) K D Hadfield et al.   ONCOGENE

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

(2010) Katherine W. Eaton et al.   PEDIATRIC BLOOD & CANCER

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system

(2010) Carol S. Bruggers et al.   PEDIATRIC BLOOD & CANCER

Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome

(2009) Hiroya Asou et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

(2009) E. M. Jackson et al.   CLINICAL CANCER RESEARCH

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

(2009) C Boyd et al.   CLINICAL GENETICS

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor

(2009) Uwe Kordes et al.   GENES CHROMOSOMES & CANCER

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

(2009) Costanza Bacci et al.   NEUROGENETICS

Neurofibromatosis type 2 (NF2): A clinical and molecular review

(2009) D Gareth R Evans   Orphanet Journal of Rare Diseases

Immunohistochemical Analysis Supports a Role for INI1/SMARCB1 in Hereditary Forms of Schwannomas, but Not in Solitary, Sporadic Schwannomas

(2008) Sushama Patil et al.   BRAIN PATHOLOGY

What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?

(2008) D. Gareth R. Evans et al.   JOURNAL OF NEUROSURGERY

Intramedullary tumours in patients with neurofibromatosis type 2: MRI features associated with a favourable prognosis

(2007) A.T.M. Rennie et al.   CLINICAL RADIOLOGY