A M Goldstein

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi Rarity of CDK4 germline mutations in familial melanoma
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
    Melanoma Res 12:51-5. 2002
  2. ncbi High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
    Cancer Res 66:9818-28. 2006
  3. ncbi Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
    J Med Genet 44:99-106. 2007
  4. ncbi Unconditional analyses can increase efficiency in assessing gene-environment interaction of the case-combined-control design
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892, USA
    Int J Epidemiol 35:1067-73. 2006
  5. ncbi Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 14:2208-12. 2005
  6. ncbi Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 9:889-94. 2000
  7. ncbi Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations
    A M Goldstein
    Genetic Epidemiology Branch, National Cancer Institute, Bethesda, MD 20892 7236, USA
    J Natl Cancer Inst 92:1006-10. 2000
  8. ncbi Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892, USA
    Int J Cancer 121:825-31. 2007
  9. ncbi Prospective risk of cancer in CDKN2A germline mutation carriers
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7236, USA
    J Med Genet 41:421-4. 2004
  10. ncbi CDKN2A mutations and melanoma risk in the Icelandic population
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiologyand Genetics NCI NIH DHHS, Executive Plaza South, Room 7004, 6120 Executive Blvd MSC 7236, Bethesda, MD 20892 7236, USA
    J Med Genet 45:284-9. 2008

Detail Information

Publications99

  1. ncbi Rarity of CDK4 germline mutations in familial melanoma
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
    Melanoma Res 12:51-5. 2002
    ..In summary, although CDK4 is a melanoma susceptibility gene, it plays a minor role in hereditary melanoma...
  2. ncbi High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
    Cancer Res 66:9818-28. 2006
    ..This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available...
  3. ncbi Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
    J Med Genet 44:99-106. 2007
    ....
  4. ncbi Unconditional analyses can increase efficiency in assessing gene-environment interaction of the case-combined-control design
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892, USA
    Int J Epidemiol 35:1067-73. 2006
    ..Under a conditional analytic approach, the case-combined-control design appeared to be more efficient and feasible than a classical case-control study for detecting interaction involving rare events...
  5. ncbi Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 14:2208-12. 2005
    ..Additional studies are needed to confirm these findings and to explore the mechanisms that may contribute to this relationship...
  6. ncbi Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 9:889-94. 2000
    ..8) versus those with CDKN2A mutations (OR, 3.3; 95% confidence interval, 1.1-10.0; complete-cases method). The CDKN2A-DN interaction illustrates the complex etiology of melanoma and needs to be confirmed in a larger sample of families...
  7. ncbi Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations
    A M Goldstein
    Genetic Epidemiology Branch, National Cancer Institute, Bethesda, MD 20892 7236, USA
    J Natl Cancer Inst 92:1006-10. 2000
    ..CDKN2A is a tumor suppressor gene that encodes p16 (which inhibits activity of the cyclin D1-CDK4 complex) with germline mutations detected in 10%-25% of melanoma-prone families, some of whom are also prone to pancreatic cancer...
  8. ncbi Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892, USA
    Int J Cancer 121:825-31. 2007
    ..Differences in melanoma risk across geographic regions justify the need for individual studies in each country before counseling should be considered...
  9. ncbi Prospective risk of cancer in CDKN2A germline mutation carriers
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7236, USA
    J Med Genet 41:421-4. 2004
    ..For non-population-based studies, risks could also be biased because of cancer occurrence prior to family ascertainment...
  10. ncbi CDKN2A mutations and melanoma risk in the Icelandic population
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiologyand Genetics NCI NIH DHHS, Executive Plaza South, Room 7004, 6120 Executive Blvd MSC 7236, Bethesda, MD 20892 7236, USA
    J Med Genet 45:284-9. 2008
    ..Germline CDKN2A mutations have been observed in 20-40% of high risk, melanoma prone families; however, little is known about their prevalence in population based series of melanoma cases and controls...
  11. ncbi High frequency of CDKN2A alterations in esophageal squamous cell carcinoma from a high-risk Chinese population
    Nan Hu
    Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 7236, USA
    Genes Chromosomes Cancer 39:205-16. 2004
    ..Only one alteration was observed in CDKN2B, G171A in the 5' untranslated region. Both mutation and intragenic allelic loss in CDKN2A appear to play a role in the development of ESCC...
  12. ncbi Genomic characterization of esophageal squamous cell carcinoma from a high-risk population in China
    Nan Hu
    Division of Cancer Epidemiology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, Maryland 20892 7236, USA
    Cancer Res 69:5908-17. 2009
    ..Our findings show the potential utility of combining CN analysis and gene expression data to identify genes involved in esophageal carcinogenesis...
  13. ncbi Gene x environment interaction from case-control and case-case approaches
    Y Bai
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Bethesda, MD 20892, USA
    Genet Epidemiol 21:S825-30. 2001
    ....
  14. ncbi Epstein-Barr virus seroreactivity among unaffected individuals within high-risk nasopharyngeal carcinoma families in Taiwan
    Amy Pickard
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Int J Cancer 111:117-23. 2004
    ..Unaffected individuals from high-risk NPC families have elevated anti-EBV IgA antibody titers. The etiologic and clinical implications of this finding remain to be established...
  15. ncbi Allelotyping of esophageal squamous-cell carcinoma on chromosome 13 defines deletions related to family history
    Nan Hu
    National Cancer Institute, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Genes Chromosomes Cancer 44:271-8. 2005
    ..Taken together, these data indicate that a gene or genes on chromosome 13 play an important role in the etiology and progression of ESCC...
  16. ncbi Alcohol consumption and lung cancer risk in the Environment and Genetics in Lung Cancer Etiology (EAGLE) study
    Vincenzo Bagnardi
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, EPS 7114, Bethesda, MD 20892 7236, USA
    Am J Epidemiol 171:36-44. 2010
    ..Although residual confounding by tobacco smoking cannot be ruled out, this finding may reflect interplay between alcohol and smoking, emphasizing the need for preventive measures...
  17. ncbi Family history of cancer and nonmalignant lung diseases as risk factors for lung cancer
    Ying Gao
    Division of Cancer Epidemiology and Genetics, Genetic Epidemiology Branch, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7236, USA
    Int J Cancer 125:146-52. 2009
    ..23-1.80) and decreased (OR = 0.73, 95% CI = 0.61-0.87) lung cancer risk, respectively. FH of lung cancer and nonmalignant lung diseases affected lung cancer risk independently, and did not appear to be modified by FH of smoking...
  18. ncbi A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families
    A M Goldstein
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA
    Br J Cancer 85:527-30. 2001
    ..All seven families had a haplotype consistent with a common ancestor/founder for this mutation. In addition, the mutation appears to have originated 34-52 generations ago (1-LOD-unit support interval 13-98 generations)...
  19. ncbi Comprehensive characterization of annexin I alterations in esophageal squamous cell carcinoma
    Nan Hu
    Cancer Prevention Studies Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 8314, USA
    Clin Cancer Res 10:6013-22. 2004
    ..The purpose is to characterize alterations of the annexin I gene, its mRNA, and protein expression in esophageal squamous cell carcinoma...
  20. ncbi Infrequent mutation in the BRCA2 gene in esophageal squamous cell carcinoma
    Nan Hu
    National Cancer Institute, Bethesda, Maryland 20892, USA
    Clin Cancer Res 8:1121-6. 2002
    ..CONCLUSIONS: BRCA2 mutations occur in ESCC but are infrequent and of unknown consequence. The putative target tumor suppressor gene corresponding to the high rate of chromosome 13q allelic loss remains unknown...
  21. ncbi Genome-wide association study in esophageal cancer using GeneChip mapping 10K array
    Nan Hu
    Cancer Prevention Studies Branch, Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    Cancer Res 65:2542-6. 2005
    ..In conclusion, we have shown the feasibility of the Affymetrix 10K SNP array in genome-wide association studies of common cancers and identified new candidate loci to study in ESCC...
  22. ncbi Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression
    Melissa Rotunno
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 4:e5652. 2009
    ..Our findings emphasize the necessity of post-GWAS fine mapping and SNP functional assessment to further elucidate cancer risk associations...
  23. ncbi Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic nevi
    A M Goldstein
    Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892 7372, USA
    Am J Hum Genet 58:1050-6. 1996
    ..Thus, the application of 2L models may be useful to help unravel the complexities of familial melanoma...
  24. ncbi Genome wide analysis of DNA copy number neutral loss of heterozygosity (CNNLOH) and its relation to gene expression in esophageal squamous cell carcinoma
    Nan Hu
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
    BMC Genomics 11:576. 2010
    ..In the current study we focused on copy number neutral (CN = 2) LOH (CNNLOH) and its relation to gene expression in ESCC...
  25. ncbi Heterogeneity of risk for melanoma and pancreatic and digestive malignancies: a melanoma case-control study
    Joni L Rutter
    Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-7236, USA
    Cancer 101:2809-16. 2004
    ..Even in a large case-control study, few families that had multiple members with melanoma were identified, and family members with pancreatic malignancies were rare...
  26. ncbi Familial melanoma, pancreatic cancer and germline CDKN2A mutations
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
    Hum Mutat 23:630. 2004
    ..71G>C (p.R24P) and c.159G>C (p.M53I) families. Further research utilizing individual-specific data will be required to determine whether these patterns represent etiologic differences or incomplete reporting of cancer and mutation data...
  27. ncbi Influence of genetic background and tissue types on global DNA methylation patterns
    Howard H Yang
    Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, United States of America
    PLoS ONE 5:e9355. 2010
    ..Furthermore, we showed that tissue types are important contributors of DNA methylation states...
  28. ncbi Evidence for a familial esophageal cancer susceptibility gene on chromosome 13
    Nan Hu
    Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    Cancer Epidemiol Biomarkers Prev 12:1112-5. 2003
    ..Overall allelic loss was significantly higher in those with a positive (versus negative) family history, suggesting the presence of an inherited tumor suppressor gene on 13q in ESCC...
  29. ncbi Gene expression analysis of esophageal squamous cell carcinoma reveals consistent molecular profiles related to a family history of upper gastrointestinal cancer
    Hua Su
    Cancer Prevention Studies Branch, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
    Cancer Res 63:3872-6. 2003
    ..001). These data indicate that molecular profiles in esophageal squamous cell carcinoma are highly consistent and that expression patterns in familial cases differ from those in sporadic cases...
  30. ncbi Frequent inactivation of the TP53 gene in esophageal squamous cell carcinoma from a high-risk population in China
    N Hu
    Divisions of Clinical Sciences, National Cancer Institute, Bethesda, Maryland 20892, USA
    Clin Cancer Res 7:883-91. 2001
    ....
  31. ncbi Apparent anticipation in familial melanoma
    A M Goldstein
    Harvard Medical School, Department of Pathology, Beth Israel Hospital, Boston, MA 02215, USA
    Melanoma Res 6:441-6. 1996
    ..Although increased surveillance may partly explain the results, additional studies should evaluate melanoma risk factors, genetic and/or environmental, across generations to examine the reasons for the apparent anticipation...
  32. ncbi HLA-DR, HLA-DQ, and TAP genes in familial Hodgkin disease
    Lea C Harty
    Genetic Epidemiology Branch and the Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892-7236, USA
    Blood 99:690-3. 2002
    ..These 3 markers were in linkage disequilibrium and may not represent independent susceptibility regions. Use of a family-based approach excludes population stratification as an explanation for these findings...
  33. ncbi Acral lentiginous melanoma: incidence and survival patterns in the United States, 1986-2005
    Porcia T Bradford
    Genetic Epidemiology Branch, DCEG, NCI, NIH, 6120 Executive Blvd, Room 7005, Rockville, MD 20852 7236, USA
    Arch Dermatol 145:427-34. 2009
    ..To examine incidence and survival patterns of acral lentiginous melanoma (ALM) in the United States...
  34. ncbi Cancer patterns in nasopharyngeal carcinoma multiplex families in Taiwan
    Kelly J Yu
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20852, USA
    Int J Cancer 124:1622-5. 2009
    ..0. Analysis of the largest NPC multiplex family study to date confirms the presence of coaggregation of NPC within families in Taiwan but does not provide evidence for a broader familial syndrome involving NPC and other tumors...
  35. ncbi Mutation screening of CHD5 in melanoma-prone families linked to 1p36 revealed no deleterious coding or splice site changes
    David Ng
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
    BMC Res Notes 1:86. 2008
    ..Based on these findings, we felt it was important to screen CHD5 as a familial CMM/DN susceptibility gene...
  36. ncbi Replication of a genome-wide case-control study of esophageal squamous cell carcinoma
    David Ng
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Rm 7112, Bethesda, MD 20892 7236, USA
    Int J Cancer 123:1610-5. 2008
    ....
  37. ncbi Environment And Genetics in Lung cancer Etiology (EAGLE) study: an integrative population-based case-control study of lung cancer
    Maria Teresa Landi
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA
    BMC Public Health 8:203. 2008
    ..A new framework of research is needed to address the challenges offered by this complex disease...
  38. ncbi Linkage analysis of anti-CCP levels as dichotomized and quantitative traits using GAW15 single-nucleotide polymorphism scan of NARAC families
    Xiaohong R Yang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, MSC 7236, Bethesda, Maryland 20892, USA
    BMC Proc 1:S107. 2007
    ..Our study also highlighted that quantitative trait linkage results are highly sensitive to phenotype transformation and analytic approaches...
  39. ncbi Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R
    Sharon A Savage
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA
    BMC Genet 9:31. 2008
    ..The melanocortin 1 receptor gene (MC1R) is responsible for normal pigment variation in humans and is highly polymorphic with numerous population-specific alleles. Some MC1R variants have been associated with skin cancer risk...
  40. ncbi Genetic testing for melanoma predisposition: current challenges
    Meg R Gerstenblith
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland 20852 7236, USA
    Cancer Nurs 30:452-9; quiz 462-3. 2007
    ....
  41. ncbi Lower risk of lung cancer after multiple pneumonia diagnoses
    Jill Koshiol
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, MSC 7248, Bethesda, MD 20892 7248, USA
    Cancer Epidemiol Biomarkers Prev 19:716-21. 2010
    ..Although pneumonia has been suggested as a risk factor for lung cancer, previous studies have not evaluated the influence of number of pneumonia diagnoses in relation to lung cancer risk...
  42. ncbi Family history of gallstones and the risk of biliary tract cancer and gallstones: a population-based study in Shanghai, China
    Ann W Hsing
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, Bethesda, MD 20852, USA
    Int J Cancer 121:832-8. 2007
    ....
  43. ncbi Assessment of human papillomavirus in lung tumor tissue
    Jill Koshiol
    Infections and Immunoepidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7248, USA
    J Natl Cancer Inst 103:501-7. 2011
    ..Lung cancer kills more than 1 million people worldwide each year. Whereas several human papillomavirus (HPV)-associated cancers have been identified, the role of HPV in lung carcinogenesis remains controversial...
  44. ncbi Jasmine tea consumption and upper gastrointestinal cancer in China
    Ying Gao
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
    Cancer Causes Control 20:1997-2007. 2009
    ..Epidemiological data on green/jasmine tea and esophageal as well as gastric cancer are limited and inconclusive...
  45. ncbi Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
    Porcia T Bradford
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    J Med Genet 48:168-76. 2011
    ..The frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair was determined in a four decade natural history study...
  46. ncbi Rising melanoma incidence rates of the trunk among younger women in the United States
    Porcia T Bradford
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland 20852, USA
    Cancer Epidemiol Biomarkers Prev 19:2401-6. 2010
    ..Therefore, we examined melanoma incidence trends by age, gender, and body site. Descriptive methods were complemented with the age-period-cohort parameters net drift and longitudinal age trend...
  47. ncbi A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma
    Christian C Abnet
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 42:764-7. 2010
    ..19 x 10(-15); OR = 1.57), and for those in the noncardia stomach it was absent (P = 0.44; OR = 1.05). Our findings at 10q23 could provide insight into the high incidence of both cancers in China...
  48. ncbi Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations
    Xiaohong Rose Yang
    Division of Cancer Epidemiology and Genetics, NCI NIH DHHS, Bethesda, MD, USA
    Fam Cancer 9:625-33. 2010
    ..These genetic variants may, at least partially, exert their effects through nevi and tanning ability...
  49. ncbi Increased risk of second primary cancers after a diagnosis of melanoma
    Porcia T Bradford
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA
    Arch Dermatol 146:265-72. 2010
    ..To quantify the risk of subsequent primary cancers among patients with primary cutaneous malignant melanoma...
  50. ncbi MicroRNA expression differentiates histology and predicts survival of lung cancer
    Maria Teresa Landi
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, Maryland 20892 7236, USA
    Clin Cancer Res 16:430-41. 2010
    ..The molecular drivers that determine histology in lung cancer are largely unknown. We investigated whether microRNA (miR) expression profiles can differentiate histologic subtypes and predict survival for non-small cell lung cancer...
  51. ncbi Identifying rheumatoid arthritis susceptibility genes using high-dimensional methods
    Xueying Liang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Bethesda, Maryland 20892, USA
    BMC Proc 3:S79. 2009
    ..We conclude that the three high-dimensional methods are useful as an initial screening for gene associations to identify promising genes for further modeling and additional replication studies...
  52. ncbi A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma
    Maria Teresa Landi
    Division of Cancer Epidemiology, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    Am J Hum Genet 85:679-91. 2009
    ..In conclusion, a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma...
  53. ncbi Chronic obstructive pulmonary disease and altered risk of lung cancer in a population-based case-control study
    Jill Koshiol
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
    PLoS ONE 4:e7380. 2009
    ..Chronic obstructive pulmonary disease (COPD) has been consistently associated with increased risk of lung cancer. However, previous studies have had limited ability to determine whether the association is due to smoking...
  54. ncbi Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations
    Xiaohong Rose Yang
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, NCI NIH DHHS, Bethesda, MD 20852, USA
    Int J Cancer 125:2912-7. 2009
    ..Our findings support the hypothesis that common genetic polymorphisms in DNA repair, apoptosis and immune response pathways may modify the risk of CMM in CMM-prone families with or without CDKN2A mutations...
  55. ncbi Genome-wide loss of heterozygosity and copy number alteration in esophageal squamous cell carcinoma using the Affymetrix GeneChip Mapping 10 K array
    Nan Hu
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, NCI, USA
    BMC Genomics 7:299. 2006
    ..Esophageal squamous cell carcinoma (ESCC) is a common malignancy worldwide. Comprehensive genomic characterization of ESCC will further our understanding of the carcinogenesis process in this disease...
  56. ncbi Evaluation of BRCA2 in the genetic susceptibility of familial esophageal cancer
    Nan Hu
    National Cancer Institute, Bethesda, MD 20892, USA
    Oncogene 23:852-8. 2004
    ..013). We conclude that germline mutations in BRCA2 in ESCC patients from this high-risk area of China are more frequent in FH+ than FH- cases, suggesting that BRCA2 may play a role in genetic susceptibility to familial ESCC...
  57. ncbi Distribution of Epstein-Barr viral load in serum of individuals from nasopharyngeal carcinoma high-risk families in Taiwan
    Xiaohong Yang
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20852, USA
    Int J Cancer 118:780-4. 2006
    ....
  58. ncbi Robustness of inference on measured covariates to misspecification of genetic random effects in family studies
    Ruth M Pfeiffer
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7244, USA
    Genet Epidemiol 24:14-23. 2003
    ..The model is applied to data from a family study on nasopharyngeal carcinoma in Taiwan...
  59. ncbi MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population
    Maria Teresa Landi
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7236, USA
    J Natl Cancer Inst 97:998-1007. 2005
    ..We examined MC1R and ASIP genotypes in relation to phenotypic characteristics, sporadic and familial melanoma risk, and melanoma thickness as an indicator of disease progression in a Mediterranean population...
  60. ncbi Cytogenetics of familial Waldenstrom's macroglobulinemia: in pursuit of an understanding of genetic predisposition
    Mary L McMaster
    Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health DHHS, 6120 Executive Boulevard, Bethesda, MD 20892, USA
    Clin Lymphoma 5:230-4. 2005
    ....
  61. ncbi Evaluation of risk factors for nasopharyngeal carcinoma in high-risk nasopharyngeal carcinoma families in Taiwan
    Xiaohong Rose Yang
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Room 7014, Bethesda, MD 20852, USA
    Cancer Epidemiol Biomarkers Prev 14:900-5. 2005
    ..The results from the two methods were similar indicating that the risk estimates from conditional logistic regression were unbiased...
  62. ncbi Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs)
    Xiaohong Rose Yang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA
    Int J Cancer 116:487-91. 2005
    ..Our study also provided insights into some limitations and analytical complexities associated with using a dense SNP marker set in linkage analysis of complex pedigrees...
  63. ncbi Retrospective family study of childhood medulloblastoma
    David Ng
    Genetic Epidemiology Branch, DCEG, NCI, NIH, DHHS, Bethesda, Maryland, USA
    Am J Med Genet A 134:399-403. 2005
    ..We conclude that clinically recognizable syndromes are uncommon among patients with medulloblastoma, however, PTCH1 and SUFU mutations are present at a low but significant frequency...
  64. ncbi Melanoma etiology: where are we?
    Margaret A Tucker
    Genetic Epidemiology Branch, DCEG, NCI, Executive Plaza South 7122, 6120 Executive Blvd, Rockville, MD 20892 7236, USA
    Oncogene 22:3042-52. 2003
    ..Recent surveys of sun behavior in the US reveal extensive sunburning and use of tanning beds in adolescents and adults. Sun protective behaviors are not as prevalent as in Australia, where population rates of melanoma are stabilizing...
  65. ncbi A genome-wide linkage scan for body mass index on Framingham Heart Study families
    Roxana Moslehi
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
    BMC Genet 4:S97. 2003
    ..BMI was defined as weight (kg) over the square of height (m), where weight and height were obtained from the first measurement available between the ages of 40 and 50 years...
  66. ncbi Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma
    H Shuen Lo
    Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cancer Res 62:4191-3. 2002
    ..Identification of multiple somatic mutations in RNF6 suggests that RNF6 is a potential tumor suppressor gene involved in the pathogenesis of ESCC...
  67. ncbi Genomic regions linked to alcohol consumption in the Framingham Heart Study
    Andrew W Bergen
    Core Genotyping Facility, Advanced Technology Center, National Cancer Institute, NIH, DHHS, Gaithersburg, Maryland, USA
    BMC Genet 4:S101. 2003
    ....
  68. ncbi A natural history of melanomas and dysplastic nevi: an atlas of lesions in melanoma-prone families
    Margaret A Tucker
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892 7236, USA
    Cancer 94:3192-209. 2002
    ....
  69. ncbi Linkage analysis of the GAW14 simulated dataset with microsatellite and single-nucleotide polymorphism markers in large pedigrees
    Xiaohong Rose Yang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
    BMC Genet 6:S14. 2005
    ..Finally, our results suggested that each linkage program had limitations in handling the large, complex pedigrees as well as a high-density SNP marker set...
  70. ncbi Identification of susceptibility loci for complex diseases in a case-control association study using the Genetic Analysis Workshop 14 dataset
    Kimberly F Kerstann
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
    BMC Genet 6:S102. 2005
    ..This result was most likely due to the method used for data simulation. In general, this study showed that conventional case-control association methods could detect disease loci responsible for the development of complex traits...
  71. ncbi Common genetic variants of TP53 and BRCA2 in esophageal cancer patients and healthy individuals from low and high risk areas of northern China
    Nan Hu
    Cancer Prevention Studies Branch, Center for Cancer Research, National Cancer Institute NCI, 6116 Executive Blvd, Room 705, Bethesda, MD 20892, USA
    Cancer Detect Prev 27:132-8. 2003
    ..22 versus 0.36 in high risk group (P=0.047), and 0.22 versus 0.40 in low risk group (P=0.010)), consistent with a disease association. These data suggest that the 203G>A polymorphism in BRCA2 may be associated with risk of ESCC...
  72. ncbi Recent tanning bed use: a risk factor for melanoma
    Tamy B H Buckel
    Division of Cancer Prevention and Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    Arch Dermatol 142:485-8. 2006
    ..CONCLUSION: Intense UV exposure as an adult likely contributed to the development of additional primary melanomas in this individual...
  73. ncbi Genetic testing for inherited predisposition to melanoma: has the time come?
    Mary C Fraser
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland, USA
    J Drugs Dermatol 3:93-5. 2004
  74. ncbi Correlates of anti-EBV EBNA1 IgA positivity among unaffected relatives from nasopharyngeal carcinoma multiplex families
    C M Chang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Blvd, EPS 7073, Rockville, MD, USA
    Br J Cancer 106:206-9. 2012
    ....
  75. ncbi Use of weighted p-values in regional inference procedures
    X Yang
    Genetic Epidemiology Branch, DCEG/NCI/NIH, Bldg. EPS/Rm. 7005, 6120 Executive Blvd, Rockville, MD 20852, USA
    Genet Epidemiol 21:S484-9. 2001
    ..In addition, all methods had low power and it is not possible to make a general conclusion that some weighting schemes are better than others...
  76. ncbi Chordoma: incidence and survival patterns in the United States, 1973-1995
    M L McMaster
    Genetic Epidemiollogy Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
    Cancer Causes Control 12:1-11. 2001
    ..Chordoma, a rare tumor arising from notochordal remnants, has been described to date only by single-institution case series or small population-based surveys...
  77. ncbi Familial eosinophilia: clinical and laboratory results on a U.S. kindred
    A Y Lin
    Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892, USA
    Am J Med Genet 76:229-37. 1998
    ..2q21.2). A gene mapping study is currently underway to study the underlying genetic mechanism(s) of this syndrome...
  78. ncbi Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development
    R Moslehi
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    Clin Genet 77:365-73. 2010
    ..Thus, we hypothesize that TTD DNA repair and transcription genes play an important role in normal human placental development...
  79. ncbi Increased power to detect gene-environment interaction using siblings controls
    Nadine Andrieu
    National Institute of Health and Medical Research EMI00 06, Evry, France
    Ann Epidemiol 15:705-11. 2005
    ..To evaluate a more realistic design, we studied the relative efficiency of a 1:0.5 case-sibling-control design compared with a classical 1:1 case-unrelated-control design and examined the effect of the analysis strategy...
  80. ncbi Two newly identified genetic determinants of pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:835-7. 2008
    ....
  81. ncbi Localization of a novel melanoma susceptibility locus to 1p22
    Elizabeth Gillanders
    Cancer Genetics Branch, National Human Genome Research Institute, Bethesda, MD
    Am J Hum Genet 73:301-13. 2003
    ..43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22...
  82. ncbi CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF
    Joni L Rutter
    Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, DHHS, Bethesda, MD, USA
    Oncogene 22:4444-8. 2003
    ..The dual inactivation of p16(INK4a) and p14(ARF) may contribute to the CMM in these families...
  83. ncbi Comprehensive evaluation of allele frequency differences of MC1R variants across populations
    Meg R Gerstenblith
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 7236, USA
    Hum Mutat 28:495-505. 2007
    ....
  84. ncbi Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma
    Paola Ghiorzo
    Department of Oncology, Biology and Genetics Medical Genetics Service, University of Genoa, and Dermatology Unit, San Martino Hospital, Italy
    Hum Mol Genet 15:2682-9. 2006
    ....
  85. ncbi High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families
    Michela Mantelli
    Dipartimento di Oncologia, Biologia e Genetica, Universita degli Studi di Genova, Genova, Italy
    Am J Med Genet 107:214-21. 2002
    ..Our results suggest that CDKN2A/CDK4 counseling-based mutational analysis may be reasonably efficient also for families with two melanoma cases, if one patient carries multiple melanomas or if pancreatic cancer is present in the family...
  86. ncbi Germline splicing mutations of CDKN2A predispose to melanoma
    Joanne C Y Loo
    Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada M5S 1A8
    Oncogene 22:6387-94. 2003
    ..Characterization of additional splice site variants and other noncoding alterations of CDKN2A should allow us to detect a wider range of mutations in at-risk patients...
  87. ncbi Analysis of mutations and identification of several polymorphisms in the putative promoter region of the P34CDC2-related CDC2L1 gene located at 1P36 in melanoma cell lines and melanoma families
    Yongmei Feng
    Arizona Cancer Center, Tucson, AZ 85724, USA
    Int J Cancer 99:834-8. 2002
    ..The contribution of 4 promoter polymorphisms to the transcriptional regulation of the gene and its association with melanoma warrants further investigation...
  88. ncbi Common sequence variants on 20q11.22 confer melanoma susceptibility
    Kevin M Brown
    Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA
    Nat Genet 40:838-40. 2008
    ..The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases...
  89. ncbi Geographical variation in the penetrance of CDKN2A mutations for melanoma
    D Timothy Bishop
    Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James s University Hospital, Leeds, UK
    J Natl Cancer Inst 94:894-903. 2002
    ..We examined the penetrance of such mutations using data from eight groups from Europe, Australia and the United States that are part of The Melanoma Genetics Consortium...
  90. ncbi ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:886-91. 2008
    ..14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation...
  91. ncbi A mutation hotspot at the p14ARF splice site
    Mark Harland
    Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James s University Hospital, Beckett Street, Leeds LS9 7TF, England
    Oncogene 24:4604-8. 2005
    ..Further investigation into the spectrum of mutations observed in this gene may help clarify the exact role of p14ARF in melanoma predisposition...
  92. ncbi Family history as a co-factor for adenocarcinoma and squamous cell carcinoma of the uterine cervix: results from two studies conducted in Costa Rica and the United States
    Alice de M Zelmanowicz
    , Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    Int J Cancer 116:599-605. 2005
    ..These results are consistent with a role of host factors in the pathogenesis of squamous cell cervical cancer, although familial aggregation due to shared environmental exposures cannot be ruled out...
  93. ncbi Allelic loss on chromosome 13q14 and mutation in deleted in cancer 1 gene in esophageal squamous cell carcinoma
    Wen Jun Li
    Shanxi Cancer Hospital and Institute, Taiyuan, People s Republic of China
    Oncogene 22:314-8. 2003
    ..We conclude that DICE1 mutations occur in ESCC but are infrequent. The candidate tumor suppressor gene corresponding to the frequent allelic loss on chromosome 13q14 in ESCC remains unknown...
  94. ncbi Overexpression of CDC25B and LAMC2 mRNA and protein in esophageal squamous cell carcinomas and premalignant lesions in subjects from a high-risk population in China
    Jian Zhong Shou
    Pathology Laboratory, Advanced Technology Center, National Cancer Institute, Bethesda, MD 20892 4605, USA
    Cancer Epidemiol Biomarkers Prev 17:1424-35. 2008
    ..The strong relation of LAMC2 pattern of protein expression to survival suggests a role in prognosis, whereas the association of CDC25B with morphologic progression indicates a potential role as an early detection marker...
  95. ncbi Mutations in SUFU predispose to medulloblastoma
    Michael D Taylor
    Division of Neurosurgery, The Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, Canada
    Nat Genet 31:306-10. 2002
    ..SUFU is a newly identified tumor-suppressor gene that predisposes individuals to medulloblastoma by modulating the SHH signaling pathway through a newly identified mechanism...
  96. ncbi Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients
    Michela Mantelli
    Dipartimento di Oncologia, Biologia e Genetica, Universita di Genova, V le Benedetto XV, 6, 16132 Genova, Italy
    Melanoma Res 14:443-8. 2004
    ..Early age at onset may be a good predictor of CDKN2A mutation in Liguria, where the G101W founder mutation is prevalent among melanoma patients, independent of family history...
  97. ncbi A piece of the melanoma puzzle
    Alisa M Goldstein
    J Natl Cancer Inst 97:1486-7. 2005
  98. ncbi A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)
    Mark Harland
    Division of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Cancer Centre at Leeds, St James s University Hospital, Leeds, UK
    Eur J Cancer 44:1269-74. 2008
    ..The relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations and implies the existence of other high penetrance melanoma susceptibility genes...
  99. ncbi Survival among children with medulloblastoma in Greece: gains from transition to chemotherapy and socio-economic differentials
    Maria Moschovi
    Hematology Oncology Unit, First Department of Pediatrics, University of Athens, Aghia Sophia Children s Hospital, Athens, Greece
    Eur J Cancer Prev 16:460-5. 2007
    ..On the contrary, children residing in rural areas of the country seem to enjoy less favorable prognosis, possibly owing to delays in diagnosis or limited access to optimal treatment facilities...