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June 1997 - June 2000
Publications
Publications (103)
Intratumor heterogeneity (ITH) and tumor evolution have been well described for clear cell renal cell carcinomas (ccRCC), but they are less studied for other kidney cancer subtypes. Here we investigate ITH and clonal evolution of papillary renal cell carcinoma (pRCC) and rarer kidney cancer subtypes, integrating whole-genome sequencing and DNA meth...
Intratumor heterogeneity (ITH) and tumor evolution have been described for clear cell renal cell carcinomas (ccRCC), but only limited data are available for other kidney cancer subtypes. Moreover, previous ITH studies predominately focused on single nucleotide variants (SNVs); little is known of the stepwise process in which additional genomic alte...
s: AACR Special Conference: Translation of the Cancer Genome; February 7-9, 2015; San Francisco, CA
We investigated patient/tumor characteristics/inherited variants, hypoxia inducible factor 1 and 2 alpha (HIF1A/HIF2A) protein expression, and patient survival among Central European (CE) and United States (US) clear cell renal cancer (ccRCC) patien...
Smooth-shelled blue mussels of the Mytilus edulis species complex are widely distributed bivalve molluscs whose introductions threaten native marine biodiversity (non-indigenous species – NIS). The aim of the present study was to identify the species and hybrids of Mytilus present in the Magellan Region (southern Chile). Results indicate that three...
Abstract Text:
Mussels are increasingly important aquaculture species. Selective breeding utilizing genomic resources is at a formative stage. We develop genome-wide markers and investigate their inheritance in two Chilean mussel families using a restriction-site associated DNA (RAD) sequencing approach. A total of 4,537 SNP markers were discover...
Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000
bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis.
To investigate further the ge...
The term retinoid includes both natural and synthetic derivatives of vitamin A. Retinoid-containing treatments have been used since ∼1550BC by the early Egyptians. Treatment of ichthyosiform disorders with retinoids dates back at least to the 1930s. Early use of high-dose vitamin A demonstrated efficacy, but because vitamin A is stored in the liver...
Background:
The chromosome 9p21.3 region has been implicated in the pathogenesis of multiple cancers.
Methods:
We systematically examined up to 203 tagging SNPs of 22 genes on 9p21.3 (19.9-32.8 Mb) in eight case-control studies: thyroid cancer, endometrial cancer (EC), renal cell carcinoma, colorectal cancer (CRC), colorectal adenoma (CA), oesop...
Array comparative genomic hybridization was used to identify copy number alterations in clear cell renal cell carcinoma (ccRCC) patient tumors to identify associations with patient/clinical characteristics. Of 763 ccRCC patients, 412 (54%) provided frozen biopsies. Clones were analyzed for significant copy number differences, adjusting for multiple...
Chromosome 9p21 has been implicated in the pathogenesis of cutaneous malignant melanoma (CMM), glioma, non-small cell lung cancer, and leukemia. This region includes cyclin-dependent kinase inhibitor 2A (CDKN2A), the major known high-risk susceptibility gene for CMM; CDKN2B; antisense noncoding RNA in the INK4 locus (ANRIL), a GWAS hotspot for mult...
Adult specimens of M. galloprovincialis from Concepcion Bay and M. chilensis from Yaldad Bay, Chile, were transferred to the laboratory to produce crosses of "pure" and "hybrid" species in order to evaluate early larval development and growth. These variables are important for understanding the dynamics of these two mussel species in this potential...
Deficiency of interleukin 1 receptor antagonist (D1RA) is a newly described autosomal recessive autoin flammatory disease in which absence of interleukin 1 (IL-1) receptor antagonist allows unopposed IL-1 activation, resulting in life-threatening systemic inflammation with prominent skin and bone involvement. We present a case of chronic cutaneous...
Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed
to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study
(GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 ca...
In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk
for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European back...
Univariate analysis of von Hippel-Lindau inactivating alterations associated with patient descriptive and clinical characteristics in clear cell RCC cases.
(XLS)
Renal tumor heterogeneity studies have utilized the von Hippel-Lindau VHL gene to classify disease into molecularly defined subtypes to examine associations with etiologic risk factors and prognosis. The aim of this study was to provide a comprehensive analysis of VHL inactivation in clear cell renal tumors (ccRCC) and to evaluate relationships bet...
We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility be...
Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology.
We sought to es...
To examine incidence patterns of patients diagnosed as having cutaneous appendageal carcinoma (CAC).
Population-based study using the Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute data from 1978 through 2005.
A total of 1801 subjects from SEER 16 registries (2001-2005) for incidence analyses, 2228 from...
We investigated whether a previous diagnosis of non-melanoma skin cancer among chronic lymphocytic leukemia patients is a predictor of poor outcome. Using the Swedish Cancer Registry, we conducted a population-based study to evaluate the survival patterns among chronic lymphocytic leukemia patients with and without non-melanoma skin cancer. Cox pro...
The folliculin gene (FLCN), also known as BHD, is the only known susceptibility gene for Birt-Hogg-Dubé syndrome. BHDS is the autosomal dominant predisposition to the development of follicular hamartomas, lung cysts, spontaneous pneumothorax, and/or kidney neoplasms. To date, 53 unique germline mutations have been reported. FLCN mutation detection...
Germline mutations in the cylindromatosis (CYLD) gene have been described in families with cylindromas, trichoepitheliomas, and/or spiradenomas. Brooke-Spiegler syndrome (BSS) is the autosomal dominant predisposition to skin appendageal neoplasms including cylindromas, trichoepitheliomas, and/or spiradenomas. We review the clinical features, molecu...
Kidney cancer is not a single disease; it is comprised of several different types of cancer, each with a different histology, with a different clinical course, caused by a different gene, and responding differently to therapy. The VHL gene is the gene for the hereditary cancer syndrome, von Hippel-Lindau, as well as for the common form of sporadic,...
Kidney cancer is not a single disease; it is comprised of several different types of cancer, each with a different histology, with a different clinical course, caused by a different gene, and responding differently to therapy. The VHL gene is the gene for the hereditary cancer syndrome, von Hippel-Lindau, as well as for the common form of sporadic,...
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. Structurally defective or attenuated cornified cell envelop h...
There have been no prior large population-based studies focusing on cutaneous lymphomas (CL) in the United States. Using the Surveillance, Epidemiology and End Results (SEER) program data, we analyzed age-adjusted CL incidence rates (IRs) and survival rates by sex and race/ethnicity. There were 3884 CLs diagnosed during 2001-2005. Cutaneous T-cell...
Immunosuppression may increase risk for some skin cancers. We evaluated skin cancer epidemiology among persons with AIDS.
We linked data from population-based US AIDS and cancer registries to evaluate risk of nonkeratinocytic skin cancers (melanoma, Merkel cell carcinoma, and appendageal carcinomas, including sebaceous carcinoma) in 497 142 persons...
Sebaceous tumors of the skin occurring in association with an internal malignancy characterize Muir-Torre syndrome (MTS), a variant of hereditary nonpolyposis colon cancer (Lynch syndrome). To the authors' knowledge, only limited information exists regarding incidence patterns of sebaceous carcinoma (SC), and no prior study has quantified risks of...
To investigate the risk of uterine fibroids and other reproductive risk factors in women with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Case-control study.
National Institutes of Health, Rockville, Maryland. Patients A family-based case-control study was conducted between July 1, 2004, and June 30, 2006, including 105 women from fami...
Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. Mutations in the transglutaminase-1 (TGM1) gene, which encodes for the epidermal enzyme transglutaminase-1 (TGase-1), are one of the causes of ARCI.
The TGM1 mutation spectrum was characterised and genotype-phenotype correlations investigated in 104 pat...
To provide a comprehensive, thorough analysis of somatic mutation and promoter hypermethylation of the von Hippel-Lindau (VHL) gene in the cancer genome, unique to clear cell renal cancer (ccRCC). Identify relationships between the prevalence of VHL gene alterations and alteration subtypes with patient and tumor characteristics.
As part of a large...
Cutaneous soft tissue sarcomas (CSTS) are a heterogeneous group of mesenchymal neoplasms. To the authors' knowledge, no prior large, population-based study has focused on CSTS.
Surveillance, Epidemiology, and End Results (SEER) Program incidence and relative survival rates of CSTS were analyzed according to race, sex, and histologic type using the...
Birt-Hogg-Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts, spontaneous pneumothorax, and kidney neoplasms. Germline mutations in BHD are associated with the susceptibility for BHDS. We previously described 51 BHDS families with BHD germline mutatio...
We conducted a literature review to investigate the recent advances in genetics, molecular biology, clinical manifestations, and therapy of 7 inherited diseases that are characterized by seemingly unprovoked inflammation. These autoinflammatory diseases include familial Mediterranean fever; tumor necrosis factor receptor–associated periodic syndrom...
Previous studies investigated the role of vitamin D intake and cancer risk. The kidney is a major organ for vitamin D metabolism, activity, and calcium homeostasis; therefore, it was hypothesized that dietary vitamin D intake and polymorphisms in the vitamin D receptor (VDR) gene may modify renal cell carcinoma (RCC) risk. Three common VDR gene pol...
High consumption of cruciferous vegetables has been associated with reduced kidney cancer risk in many studies. Isothiocyanates, thought to be responsible for the chemopreventive properties of this food group, are conjugated to glutathione by glutathione S-transferases (GSTs) before urinary excretion. Modification of this relationship by host genet...
An elevated familial relative risk may indicate either an important genetic component in etiology or shared environmental exposures within the family. Incidence rates of kidney cancer are particularly high in Central Europe, although no data were available on the familial aggregation or genetic background of kidney cancer in this region. We have, t...
New Zealand black (NZB) mice with autoimmune and B lymphoproliferative disease (B-LPD) are a model for human chronic lymphocytic leukemia (CLL). A genomewide linkage scan of the NZB loci associated with lymphoma was conducted in F1 backcrosses of NZB and a control strain, DBA/2. Of 202 mice phenotyped for the presence or absence of LPD, surface mak...
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax.
We evaluated 198 patients from 89 families with BHDS to characterize the risk factors for pneumothorax and genotype-pulmonary associations.
Helical computed tomography...
Chronic lymphocytic leukemia (CLL) is the most prevalent form of leukemia in adults in western countries. A genome scan of CLL-prone families revealed a lod score of one in band 13q22.1. To investigate this finding, we selected 6 CLL families consisting of 63 individuals (CLL affected, n=19; unaffected, n=44) for fine mapping of a 23-megabase regio...
Soft tissue sarcomas (STS) are a heterogeneous group of uncommon tumors that show a broad range of differentiation that may reflect etiologic distinction. Routine tabulations of STS are not morphology-specific. Further, the lack of inclusion of sarcomas arising in all organs in most standard evaluations underestimates the true rates. We analyzed th...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is the autosomal dominant heritable syndrome with predisposition to development of renal cell carcinoma and smooth muscle tumours of the skin and uterus.
To measure the fumarate hydratase (FH) enzyme activity in lymphoblastoid cell lines and fibroblast cell lines of individuals with HLRCC and...
A subset of chronic lymphocytic leukaemia (CLL) shows familial aggregation. Studies show an increased risk for CLL and other lymphoproliferative disease among first-degree relatives of affected individuals. A genome-wide scan of 18 CLL families in 2003 detected LOD or non-parametric linkage scores > or = 1.0 on chromosomes 1, 3, 6, 12, 13 and 17. F...
Hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839) is the predisposition to develop smooth muscle tumours of the skin and uterus and/or renal cancer and is associated with mutations in the fumarate hydratase gene (FH). Here we characterise the clinical and genetic features of 21 new families and present the first report of two Afr...
Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), predisposes individuals to an increased risk of developing renal neoplasms and spontaneous pneumothorax. Previously, we localized the BHD locus (also known as FLCN) to chromosome 17p11.2 by linkage analysis and subsequently...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cancer. Although the identification of germline mutations in the fumarate hydratase (FH) gene in European families supports it as the susceptibility gene for HLRCC, its role in families...
Cidofovir is a new antiviral drug that has a broad spectrum of activity against several DNA viruses. Many of the disorders caused by these viruses do not have satisfactory therapy, and given the efficacy of this agent in treating many of these conditions, it holds great promise. It is hoped that ongoing studies will confirm the initial anecdotal re...
The importance of alpha beta versus gamma delta T-cell subset antigen expression in the classification of peripheral T-cell lymphomas is still unclear. The objective of this study was to investigate the prognostic value of T-cell receptor-delta 1 (TCR delta 1) expression in primary cutaneous T-cell lymphomas. TCR delta 1 cellular expression was ass...
J Am Acad Dermatol 2003;48:111-4.
Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination mapping in BHD families delineated the susceptibility locus to 700 kb on chromosome 17p11.2. Protein-truncating mutations were identified in a novel candidate gene in a panel of BHD f...
Abstract
Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination mapping in BHD families delineated the susceptibility locus to 700 kb on chromosome 17p11.2. Protein-truncating mutations were identified in a novel candidate gene in a pane...
In 1977, Birt, Hogg, and Dube described a kindred in which 15 of 70 members over three generations exhibited multiple, small, grey skin coloured, dome shaped papules distributed over the face, neck, and upper trunk inherited in an autosomal dominant pattern.1 Histological examination of these lesions showed fibrofolliculomas, trichodiscomas, and ac...
Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve abnormal intracellular vesicle formation. A third HPS-causing g...
Lymphomatoid granulomatosis (LYG) is a rare angiocentric and angiodestructive Epstein-Barr virus-associated B-cell lymphoproliferative disorder (EBV-BLPD), varying widely from an indolent process to an aggressive large cell lymphoma. The skin is the extrapulmonary organ most commonly involved in LYG. We studied 32 skin lesions from 20 patients with...
Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous pneumothorax. To identify the BHD locus, we recruited families with cutaneous lesions and associated phenotypic features of the BHD syndrome. We performed a g...
