Margaret A Tucker

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi Tobacco use in adult long-term survivors of retinoblastoma
    Meredith C Foster
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, EPS 7044, 6120 Executive Boulevard, Rockville, MD 20852, USA
    Cancer Epidemiol Biomarkers Prev 15:1464-8. 2006
  2. 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
  3. ncbi Does radiotherapy dose correlate with incidence of thyroid cancer in survivors of childhood tumors?
    Margaret A Tucker
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7236, USA
    Nat Clin Pract Endocrinol Metab 2:68-9. 2006
  4. ncbi Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families
    Mary L McMaster
    Genetic Epidemiology Branch, Bethesda, MD, 20892 7236, USA
    Am J Hum Genet 79:695-701. 2006
  5. 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
  6. 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
  7. ncbi Is sunlight important to melanoma causation?
    Margaret A Tucker
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Room 7122, Bethesda, MD 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 17:467-8. 2008
  8. ncbi Melanoma epidemiology
    Margaret A Tucker
    Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Room 7122, Bethesda, MD 20892 7236, USA
    Hematol Oncol Clin North Am 23:383-95, vii. 2009
  9. ncbi Sun exposure measurements in populations
    Margaret A Tucker
    Human Genetics Program, Chief, Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Room 7122, Bethesda, MD 20892-7236, USA
    Nutr Rev 65:S84-6. 2007
  10. 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

Detail Information

Publications83

  1. ncbi Tobacco use in adult long-term survivors of retinoblastoma
    Meredith C Foster
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, EPS 7044, 6120 Executive Boulevard, Rockville, MD 20852, USA
    Cancer Epidemiol Biomarkers Prev 15:1464-8. 2006
    ..Smoking did not account for the increased risk of lung cancer among hereditary Rb patients, and this may point to an enhanced sensitivity to the carcinogenic effects of tobacco. Adult survivors of Rb should be encouraged to stop smoking...
  2. 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
    ....
  3. ncbi Does radiotherapy dose correlate with incidence of thyroid cancer in survivors of childhood tumors?
    Margaret A Tucker
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7236, USA
    Nat Clin Pract Endocrinol Metab 2:68-9. 2006
  4. ncbi Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families
    Mary L McMaster
    Genetic Epidemiology Branch, Bethesda, MD, 20892 7236, USA
    Am J Hum Genet 79:695-701. 2006
    ..The findings from this first linkage analysis of families at high risk for WM represent important progress toward identifying gene(s) that modulate susceptibility to WM and toward understanding its complex etiology...
  5. 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...
  6. 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...
  7. ncbi Is sunlight important to melanoma causation?
    Margaret A Tucker
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Room 7122, Bethesda, MD 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 17:467-8. 2008
  8. ncbi Melanoma epidemiology
    Margaret A Tucker
    Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Room 7122, Bethesda, MD 20892 7236, USA
    Hematol Oncol Clin North Am 23:383-95, vii. 2009
    ..Ultraviolet radiation exposure is the predominant environmental risk factor for melanoma. Recently, both rare high risk susceptibility genes and common polymorphic genes contributing to melanoma risk have been identified...
  9. ncbi Sun exposure measurements in populations
    Margaret A Tucker
    Human Genetics Program, Chief, Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Room 7122, Bethesda, MD 20892-7236, USA
    Nutr Rev 65:S84-6. 2007
  10. 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...
  11. 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...
  12. ncbi Risk of soft tissue sarcomas by individual subtype in survivors of hereditary retinoblastoma
    Ruth A Kleinerman
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, EPS 7044, 6120 Executive Blvd, Rockville, MD 20852, USA
    J Natl Cancer Inst 99:24-31. 2007
    ..Survivors of hereditary retinoblastoma have an increased risk for second malignancies, especially soft tissue sarcomas. However, the risks of individual histologic subtypes of soft tissue sarcomas have not been evaluated...
  13. ncbi Identifying individuals at high risk of melanoma: a practical predictor of absolute risk
    Thomas R Fears
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    J Clin Oncol 24:3590-6. 2006
    ..We developed a model to estimate the 5-year absolute risk of melanoma to efficiently identify individuals at increased risk of melanoma for potential interventions...
  14. ncbi Genetic variants in DNA repair genes and the risk of cutaneous malignant melanoma in melanoma-prone families with/without CDKN2A mutations
    Xueying Sharon Liang
    Division of Cancer Epidemiology and Genetics, NCI NIH, Bethesda, MD, USA
    Int J Cancer 130:2062-6. 2012
    ..Our finding suggests that polymorphisms in DNA repair genes, POLN and PRKDC, were associated with increased melanoma risk in melanoma families with and without CDKN2A mutations...
  15. ncbi BRCA1 and sex ratio
    Jeffery P Struewing
    Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 5060, USA
    Eur J Hum Genet 12:663-7. 2004
    ..Nonetheless, these observations do not support the idea that BRCA1 mutation carriers have a lower ratio of male offspring than BRCA2 mutation carriers...
  16. 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...
  17. ncbi Cause-specific mortality in long-term survivors of retinoblastoma
    Chu Ling Yu
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health DHHS, 6120 Executive Blvd, Rockville, MD 20892 7238, USA
    J Natl Cancer Inst 101:581-91. 2009
    ..Radiotherapy further increases the risk of death. Mortality information is limited among long-term survivors who were irradiated for hereditary retinoblastoma...
  18. ncbi Diet and melanoma in a case-control study
    Amy E Millen
    Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7344, USA
    Cancer Epidemiol Biomarkers Prev 13:1042-51. 2004
    ..Malignant melanoma has been one of the most rapidly increasing cancers within the United States with few modifiable risk factors. This study investigates risk related to dietary factors, which are potentially modifiable...
  19. 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...
  20. 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...
  21. ncbi Dietary quercetin, quercetin-gene interaction, metabolic gene expression in lung tissue and lung cancer risk
    Tram Kim Lam
    Cancer Prevention Fellowship Program, Office of Preventive Oncology, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    Carcinogenesis 31:634-42. 2010
    ..Our findings suggest an interplay between quercetin intake, tobacco smoking, and lung cancer risk. Further research on this relationship is warranted...
  22. 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...
  23. ncbi Common genetic variants in sex hormone pathway genes and papillary thyroid cancer risk
    Sara J Schonfeld
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7238, USA
    Thyroid 22:151-6. 2012
    ..We hypothesized that polymorphic variation in hormone pathway genes is associated with the risk of developing papillary thyroid cancer...
  24. ncbi Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family
    Xiaohong R Yang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, MD, USA
    Pigment Cell Melanoma Res 25:243-7. 2012
    ..Our data suggest that the alteration of CXC chemokine genes may confer susceptibility to melanoma...
  25. ncbi Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies
    Christian C Abnet
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7236, USA
    Hum Mol Genet 21:2132-41. 2012
    ..Future studies of esophageal and other cancers should focus on comprehensive sequencing of this 2q33 locus and functional analysis of rs13016963 and rs10201587 and other strongly correlated variants...
  26. 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...
  27. 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...
  28. 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...
  29. ncbi Sunbeds and sunlamps: who used them and their risk for melanoma
    Thomas R Fears
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
    Pigment Cell Melanoma Res 24:574-81. 2011
    ..Body sites that are not generally exposed to sunlight were more common sites of primary melanomas for frequent sunbed/sunlamp users. For males, measures of sunbed/sunlamp use were not significantly associated with melanoma risk...
  30. 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...
  31. 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...
  32. ncbi Common genetic variants related to genomic integrity and risk of papillary thyroid cancer
    Gila Neta
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health DHHS, 6120 Executive Boulevard, Rockville, MD 20852 7244, USA
    Carcinogenesis 32:1231-7. 2011
    ..01, including HUS1, ALKBH3, HDAC4, BAK1, FAF1_CDKN2C, DACT3 and FZD6. Our results suggest a possible role of genes involved in maintenance of genomic integrity in relation to risk of PTC...
  33. 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...
  34. ncbi Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer
    Xiaohong R Yang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, Bethesda, MD, USA
    Fam Cancer 10:545-8. 2011
    ..The results suggested that PALB2 does not explain the relationship between CDKN2A, melanoma, and pancreatic cancer in these melanoma-prone families...
  35. ncbi Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study
    Joni L Rutter
    Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7246, USA
    J Natl Cancer Inst 95:1072-8. 2003
    ..We assessed the level and persistence of reduction of ovarian (including peritoneal) cancer risk after gynecologic surgeries for women who carry BRCA1/2 mutations but were not selected from high-risk clinics...
  36. ncbi Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum
    Deborah Tamura
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA
    Eur J Hum Genet 20:1308-10. 2012
    ..001). As mutations in XPD may have differential effects on DNA repair and transcription, these observations should provide insights into the role of XPD in human pregnancy and fetal development...
  37. ncbi Variation of second cancer risk by family history of retinoblastoma among long-term survivors
    Ruth A Kleinerman
    National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA
    J Clin Oncol 30:950-7. 2012
    ..To evaluate the risk of second cancer (SC) in long-term survivors of retinoblastoma (Rb) according to classification of germline mutation, based on family history of Rb and laterality...
  38. ncbi Long-term evaluation of three multiple-case Waldenstrom macroglobulinemia families
    Mary L McMaster
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, NIH, Department of Health and Human Services, 6120 Executive Boulevard, MSC 7236 Bethesda, MD 20892 7236, USA
    Clin Cancer Res 13:5063-9. 2007
    ....
  39. 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...
  40. ncbi Average midrange ultraviolet radiation flux and time outdoors predict melanoma risk
    Thomas R Fears
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
    Cancer Res 62:3992-6. 2002
    ..4%). The association between melanoma risk and average annual UVB flux was strong and consistent for men and for women. The association with total adult hours outdoors was notable for men of all skin types and women who develop a suntan...
  41. ncbi Divergent cancer pathways for early-onset and late-onset cutaneous malignant melanoma
    William F Anderson
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Institutes of Health, National Cancer Institute, Bethesda, Maryland 20892 7244, USA
    Cancer 115:4176-85. 2009
    ..However, numerous questions remain regarding the timing and/or age of exposure...
  42. ncbi Risk of cataract extraction among adult retinoblastoma survivors
    Gabriel Chodick
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7238, USA
    Arch Ophthalmol 127:1500-4. 2009
    ..To investigate the risk of cataract extraction among adult retinoblastoma survivors...
  43. 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
    ....
  44. ncbi Cancer screening practices of adult survivors of retinoblastoma at risk of second cancers
    Victoria Sheen
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland 20852, USA
    Cancer 113:434-41. 2008
    ..The aim of the current study was to investigate the pattern of cancer screening behavior in adult retinoblastoma survivors, who are at high risk of developing second cancers...
  45. ncbi Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: an extended follow-up
    Ruth A Kleinerman
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20852 7362, USA
    J Clin Oncol 23:2272-9. 2005
    ..We have extended the follow-up of a large cohort of Rb patients for 7 more years to provide new information on the risk of additional cancers after radiotherapy in long-term survivors...
  46. ncbi Replicating genotype-phenotype associations
    Stephen J Chanock
    Division of Cancer Epidemiology and Genetics, Bethesda, Maryland 20892-4605, USA
    Nature 447:655-60. 2007
  47. ncbi Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations
    Lois B Travis
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J Natl Cancer Inst 98:15-25. 2006
    ..These research areas warrant high priority to promote NCI's goal of eliminating pain and suffering related to cancer...
  48. ncbi The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma
    Summer S Han
    Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7231, USA
    Hum Mol Genet 21:1190-200. 2012
    ..72 × 10(-9), per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants...
  49. ncbi High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies
    Deborah Tamura
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA
    Prenat Diagn 31:1046-53. 2011
    ..To identify the frequency of pregnancy and neonatal complications in pregnancies carrying fetuses affected with trichothiodystrophy (TTD)...
  50. 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...
  51. 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...
  52. ncbi Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals
    Joni L Rutter
    Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland
    Hum Mutat 22:121-8. 2003
    ..Further analysis in unselected cases will be required to know whether the identified variants play a role in genetic predisposition to breast cancer in the general population. Hum Mutat 22:121-128, 2003. Published 2003 Wiley-Liss, Inc...
  53. 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
    ....
  54. 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...
  55. ncbi Second malignancy risks after non-Hodgkin's lymphoma and chronic lymphocytic leukemia: differences by lymphoma subtype
    Lindsay M Morton
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20892, USA
    J Clin Oncol 28:4935-44. 2010
    ....
  56. 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...
  57. ncbi Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer
    Laveta Stewart
    Division of Cancer Epidemiology and Genetics, Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Rockville, MD 20892 7231, USA
    Arch Dermatol 144:1584-92. 2008
    ..To investigate the risk of uterine fibroids and other reproductive risk factors in women with hereditary leiomyomatosis and renal cell cancer (HLRCC)...
  58. 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
  59. 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...
  60. ncbi LINE-1 methylation in peripheral blood and the risk of melanoma in melanoma-prone families with and without CDKN2A mutations
    Paula L Hyland
    aDivision of Cancer Epidemiology and Genetics DCEG, National Cancer Institute NCI, National Institutes of Health NIH, DHHS bCancer Prevention Fellowship Program, Division of Cancer Prevention, NCI, NIH, Bethesda, Maryland, USA
    Melanoma Res 23:55-60. 2013
    ..Our findings did not support a significant association between constitutional LINE-1 methylation in PBMCs and risk of CMM in melanoma-prone families with or without CDKN2A mutations...
  61. ncbi DNA repair, dysplastic nevi, and sunlight sensitivity in the development of cutaneous malignant melanoma
    Maria Teresa Landi
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7236, USA
    J Natl Cancer Inst 94:94-101. 2002
    ..We designed this case-control study to determine whether DNA repair capacity (DRC) is associated with the risk of CMM and to identify risk factors that may interact biologically with DRC in the development of melanoma...
  62. ncbi Hereditary genodermatoses with cancer predisposition
    Meg R Gerstenblith
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892 7236, USA
    Hematol Oncol Clin North Am 24:885-906. 2010
    ..Early recognition and diagnosis allows for close follow-up and surveillance for associated malignancies...
  63. ncbi On the interplay of telomeres, nevi and the risk of melanoma
    Clara Bodelon
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, United States of America
    PLoS ONE 7:e52466. 2012
    ..Larger studies across different populations are necessary to clarify these associations...
  64. 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
    ....
  65. ncbi Sarcomas in hereditary retinoblastoma
    Ruth A Kleinerman
    Epidemiology and Biostatistics Program Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA
    Clin Sarcoma Res 2:15. 2012
    ..Given the excellent survival of most Rb patients treated in the past, it is important for survivors, their families and health care providers to be aware of the heightened risk for sarcomas in hereditary patients...
  66. ncbi Thyroid cancer after exposure to external radiation: a pooled analysis of seven studies
    Elaine Ron
    Epidemiology and Biostatistics Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892
    Radiat Res 178:AV43-60. 2012
    ..The thyroid gland in children has one of the highest risk coefficients of any organ and is the only tissue with convincing evidence for risk at about 0.10 Gy...
  67. 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...
  68. 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...
  69. ncbi Breast cancer risk in Ashkenazi BRCA1/2 mutation carriers: effects of reproductive history
    Patricia Hartge
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7246, USA
    Epidemiology 13:255-61. 2002
    ..Younger age at first birth and greater parity generally reduce the risk of developing breast cancer, but whether this reduced risk holds in women with a mutation in the BRCA1 or BRCA2 gene is unknown...
  70. 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...
  71. 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...
  72. 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...
  73. 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...
  74. 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...
  75. 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...
  76. ncbi Reproductive risk factors for cutaneous melanoma in women: a case-control study
    C Suzanne Lea
    Statistics and Epidemiology Program, Research Triangle Institute International, Research Triangle Park, NC, USA
    Am J Epidemiol 165:505-13. 2007
    ..9, 95% confidence interval: 1.1, 8.1). Oral contraceptive use and hormone replacement therapy were not associated with melanoma risk...
  77. 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...
  78. ncbi Breast cancer risks for BRCA1/2 carriers
    Sholom Wacholder
    Science 306:2187-91; author reply 2187-91. 2004
  79. ncbi Re: Sun exposure and mortality from melanoma
    Thomas R Fears
    J Natl Cancer Inst 97:1789-90; author reply 1791. 2005
  80. ncbi A piece of the melanoma puzzle
    Alisa M Goldstein
    J Natl Cancer Inst 97:1486-7. 2005
  81. ncbi Pediatric melanoma: risk factor and survival analysis of the surveillance, epidemiology and end results database
    John J Strouse
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    J Clin Oncol 23:4735-41. 2005
    ..To evaluate risk factors for the development of and factors influencing survival in pediatric melanoma...
  82. 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
    ....
  83. ncbi Making sense of puzzling genetic association studies: a team approach
    Jennifer S Lee
    Ann Intern Med 145:302-4. 2006