scholarly journals Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

2010 ◽  
Vol 10 (1) ◽  
pp. 127-132 ◽  
Author(s):  
Ans M. W. van den Ouweland ◽  
Peter Elfferich ◽  
Roy Lamping ◽  
Raoul van de Graaf ◽  
Monique M. van Veghel-Plandsoen ◽  
...  
Keyword(s):  
Large Rearrangement ◽  
Familial Cylindromatosis

A Frequent Large Rearrangement in the CFTR Gene in Cystic Fibrosis Patients from Reunion Island

2006 ◽  
Vol 10 (3) ◽  
pp. 208-214 ◽  
Author(s):  
Juliette Nectoux ◽  
Marie Pierre Audrezet ◽  
Marion Viel ◽  
Chrystel Leroy ◽  
Odile Raguenes ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cftr Gene ◽  
Reunion Island ◽  
Large Rearrangement ◽  
Réunion Island

scholarly journals 5 Rapid screening for large rearrangement by a 2 PCR-multiplex strategy

2006 ◽  
Vol 5 ◽  
pp. S2
Author(s):  
M.P. Audrezet ◽  
K. Giteau ◽  
O. Raguenes ◽  
M.N. Kervennic ◽  
C. Ferec
Keyword(s):  
Rapid Screening ◽  
Large Rearrangement ◽  
Pcr Multiplex

Familial Cylindromatosis and Brooke-Spiegler Syndrome

2009 ◽  
Vol 35 (5) ◽  
pp. 845-852 ◽  
Author(s):  
Neil Rajan ◽  
Alison H. Trainer ◽  
John Burn ◽  
James A. A. Langtry
Keyword(s):  
Familial Cylindromatosis

scholarly journals The BRG1- and hBRM-Associated Factor BAF57 Induces Apoptosis by Stimulating Expression of the Cylindromatosis Tumor Suppressor Gene

2005 ◽  
Vol 25 (18) ◽  
pp. 7953-7965 ◽  
Author(s):  
Li Wang ◽  
Robert A. Baiocchi ◽  
Sharmistha Pal ◽  
George Mosialos ◽  
Michael Caligiuri ◽  
...  
Keyword(s):  
Cell Death ◽  
Tumor Suppressor ◽  
Growth Regulation ◽  
Suppressor Gene ◽  
Breast Carcinoma Cell Line ◽  
Chromatin Remodelers ◽  
Cycle Arrest ◽  
Induced Apoptosis ◽  
Familial Cylindromatosis ◽  
Interfering Rna

ABSTRACT Mutation of BRG1, hBRM, and their associated factors, INI1 and BAF57, in primary human tumors has suggested that inactivation of human SWI/SNF (hSWI/SNF) complexes may be involved in neoplastic transformation. BT549 is an invasive human breast carcinoma cell line that lacks expression of BAF57, a key hSWI/SNF subunit that mediates interaction with transcriptional activators and corepressors. In this study we investigated the role of BAF57 in suppressing tumorigenesis by establishing BT549 stable cell lines that expresses full-length BAF57 protein. BT549 clones expressing BAF57 demonstrated marked phenotypic changes, slow growth kinetics, and restoration of contact inhibition. Altered growth was found to be due in part to cell cycle arrest and induction of apoptosis. Furthermore, microarray analysis revealed that BAF57-mediated cell death was associated with up-regulation of proapoptotic genes including the tumor suppressor familial cylindromatosis (CYLD), which was found to be a direct target of BAF57 as determined by chromatin immunoprecipitation analysis. Increased expression of CYLD in BT549 cells induced apoptosis, while its suppression by small interfering RNA inhibited cell death in BAF57 expressing BT549 cells. These findings demonstrate the importance of BAF57 in cell growth regulation and provide a novel link between hSWI/SNF chromatin remodelers and apoptosis.

scholarly journals Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.

1998 ◽  
Vol 35 (10) ◽  
pp. 841-845 ◽  
Author(s):  
S Verhoef ◽  
C T Schrander-Stumpel ◽  
V D Vuzevski ◽  
A Tempelaars ◽  
L A Jansen ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Large Family ◽  
Familial Cylindromatosis

scholarly journals Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

2011 ◽  
Vol 132 (1) ◽  
pp. 307-315 ◽  
Author(s):  
Ana Blanco ◽  
Miguel de la Hoya ◽  
Judith Balmaña ◽  
Teresa Ramón y Cajal ◽  
Alex Teulé ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Male Breast ◽  
Large Rearrangement

scholarly journals The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

BMC Genetics ◽  
2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Katalin Farkas ◽  
Barbara Kocsis Deák ◽  
Laura Cubells Sánchez ◽  
Ana Mercedes Victoria Martínez ◽  
Juan José Vilata Corell ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Familial Cylindromatosis

scholarly journals Prevalence and Type ofBRCAMutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network

2013 ◽  
Vol 31 (2) ◽  
pp. 210-216 ◽  
Author(s):  
Jeffrey N. Weitzel ◽  
Jessica Clague ◽  
Arelis Martir-Negron ◽  
Raquel Ogaz ◽  
Josef Herzog ◽  
...  
Keyword(s):  
Breast Cancer ◽  
United States ◽  
Ovarian Cancer ◽  
Founder Mutation ◽  
The United States ◽  
Population Based ◽  
Cancer Risk Assessment ◽  
Brca Mutations ◽  
Large Rearrangement ◽  
Recurrent Mutations

PurposeTo determine the prevalence and type of BRCA1 and BRCA2 (BRCA) mutations among Hispanics in the Southwestern United States and their potential impact on genetic cancer risk assessment (GCRA).Patients and MethodsHispanics (n = 746) with a personal or family history of breast and/or ovarian cancer were enrolled in an institutional review board–approved registry and received GCRA and BRCA testing within a consortium of 14 clinics. Population-based Hispanic breast cancer cases (n = 492) enrolled in the Northern California Breast Cancer Family Registry, negative by sequencing for BRCA mutations, were analyzed for the presence of the BRCA1 ex9-12del large rearrangement.ResultsDeleterious BRCA mutations were detected in 189 (25%) of 746 familial clinic patients (124 BRCA1, 65 BRCA2); 21 (11%) of 189 were large rearrangement mutations, of which 62% (13 of 21) were BRCA1 ex9-12del. Nine recurrent mutations accounted for 53% of the total. Among these, BRCA1 ex9-12del seems to be a Mexican founder mutation and represents 10% to 12% of all BRCA1 mutations in clinic- and population-based cohorts in the United States.ConclusionBRCA mutations were prevalent in the largest study of Hispanic breast and/or ovarian cancer families in the United States to date, and a significant proportion were large rearrangement mutations. The high frequency of large rearrangement mutations warrants screening in every case. We document the first Mexican founder mutation (BRCA1 ex9-12del), which, along with other recurrent mutations, suggests the potential for a cost-effective panel approach to ancestry-informed GCRA.

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