penetrance

Summary

Summary: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)

Top Publications

  1. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
  2. doi Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases
    Irene Catucci
    IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
    Hum Mutat 31:E1052-7. 2010
  3. pmc Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium
    Annegien Broeks
    Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    Hum Mol Genet 20:3289-303. 2011
  4. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
  5. pmc Variability in gene expression underlies incomplete penetrance
    Arjun Raj
    Department of Physics, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nature 463:913-8. 2010
  6. doi A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese population
    Aiko Sueta
    Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, 1 1, Kanokoden, Chikusa ku, Nagoya 464 8681, Japan
    Breast Cancer Res Treat 132:711-21. 2012
  7. doi Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
    Karin Frank-Raue
    Endocrine Practice and Molecular Laboratory, Heidelberg, Germany
    Hum Mutat 32:51-8. 2011
  8. pmc Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    BMC Med Genet 12:23. 2011
  9. pmc Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice
    Jennifer M Hilton
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Genome Biol 12:R90. 2011
  10. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007

Detail Information

Publications291 found, 100 shown here

  1. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  2. doi Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases
    Irene Catucci
    IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
    Hum Mutat 31:E1052-7. 2010
    ..None of the performed analyses showed statistically significant results. In conclusion, our data suggested lack of association between SNPs rs2910164, rs11614913 and rs3746444 and breast cancer risk, or age at breast cancer onset...
  3. pmc Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium
    Annegien Broeks
    Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    Hum Mol Genet 20:3289-303. 2011
    ..This may eventually result in further improvements in prevention, early detection and treatment...
  4. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
    ..Risk prediction provided by the counselor requires reliable estimates of the mutation penetrance. Such penetrance has been investigated by studies worldwide. The reported estimates vary...
  5. pmc Variability in gene expression underlies incomplete penetrance
    Arjun Raj
    Department of Physics, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nature 463:913-8. 2010
    ..Our results demonstrate that mutations in developmental networks can expose otherwise buffered stochastic variability in gene expression, leading to pronounced phenotypic variation...
  6. doi A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese population
    Aiko Sueta
    Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, 1 1, Kanokoden, Chikusa ku, Nagoya 464 8681, Japan
    Breast Cancer Res Treat 132:711-21. 2012
    ..Risk models which include a genetic risk score are possibly useful in distinguishing women at high risk of breast cancer from those at low risk, particularly in the context of targeted prevention...
  7. doi Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
    Karin Frank-Raue
    Endocrine Practice and Molecular Laboratory, Heidelberg, Germany
    Hum Mutat 32:51-8. 2011
    ..Presentation, age-dependent penetrance, and stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism were ..
  8. pmc Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    BMC Med Genet 12:23. 2011
    ..In this study, we aimed to gain insight into the molecular basis of seven low-penetrance CRC loci tagged by rs4779584 at 15q13, rs10795668 at 10p14, rs3802842 at 11q23, rs4444235 at 14q22, rs9929218 at ..
  9. pmc Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice
    Jennifer M Hilton
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Genome Biol 12:R90. 2011
    ..Genetic studies suggest an inherited component, but few of the genes that contribute to this condition are known. Mouse mutants have contributed significantly to the identification of genes predisposing to otitis media..
  10. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder...
  11. doi Haploinsufficiency in mouse models of DNA repair deficiency: modifiers of penetrance
    Diane C Cabelof
    Department of Nutrition and Food Science, Wayne State University, Detroit, MI 48201, USA
    Cell Mol Life Sci 69:727-40. 2012
    ..In light of a better understanding that the role of DNA repair haploinsufficiency may play in penetrance of other oncogenic or disease causing factors, it may be in the interest of human health and disease prevention ..
  12. doi Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
    Ioana N Milos
    Section of Preventive Medicine, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
    Endocr Relat Cancer 15:1035-41. 2008
    ..By international efforts, we ascertained all available carriers of the RET C634W mutation. Age at diagnosis, penetrance, and clinical complications were analyzed for medullary thyroid carcinoma (MTC), pheochromocytoma, and ..
  13. doi Novel A14841G mutation is associated with high penetrance of LHON/C4171A family
    Juhua Yang
    Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China
    Biochem Biophys Res Commun 386:693-6. 2009
    ..This family has high penetrance of visual impairment and extremely low frequency of vision recovery, which is in marked contrast to previously ..
  14. ncbi A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
    D R Langbehn
    Department of Psychiatry, University of Iowa College of Medicine, Iowa City, IA, USA
    Clin Genet 65:267-77. 2004
    ..This model also defines the variability in HD onset that is not attributable to CAG length and provides information concerning CAG-related penetrance rates.
  15. ncbi Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
    Sheila Seal
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Nat Genet 38:1239-41. 2006
    ..Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers...
  16. ncbi High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene
    Rodrigo A Toledo
    Faculdade de Medicina da Universidade de Sao Paulo, Avenida Dr Arnaldo, 455, 5 degrees andar, Cerqueira Cesar, 012406 903, Sao Paulo, Brazil
    J Clin Endocrinol Metab 95:1318-27. 2010
    ..Previous studies have shown that double RET mutations may be associated with unusual multiple endocrine neoplasia type 2 (MEN 2) phenotypes...
  17. doi Polygenes, risk prediction, and targeted prevention of breast cancer
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, United Kingdom
    N Engl J Med 358:2796-803. 2008
    ..New developments in the search for susceptibility alleles in complex disorders provide support for the possibility of a polygenic approach to the prevention and treatment of common diseases...
  18. ncbi Pheochromocytoma penetrance varies by RET mutation in MEN 2A
    Frank J Quayle
    Washington University School of Medicine, St Louis, MO 63110, USA
    Surgery 142:800-5; discussion 805.e1. 2007
    ..The occurrence of pheochromocytoma in multiple endocrine neoplasia type 2A (MEN 2A) carriers varies greatly. This study aims to determine PC expression for specific MEN 2A RET mutations...
  19. pmc Variable penetrance of metabolic phenotypes and development of high-fat diet-induced adiposity in NEIL1-deficient mice
    Harini Sampath
    Center for Research on Occupational and Environmental Toxicology, Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, USA
    Am J Physiol Endocrinol Metab 300:E724-34. 2011
    ..Collectively, these data indicate that NEIL1 deficiency results in an increased susceptibility to obesity and related complications potentially by lowering the threshold for tolerance of cellular oxidative stress in neil1(-/-) mice...
  20. ncbi Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
    Erica R Eichers
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA
    Hum Genet 120:211-26. 2006
    ..Evaluations of these null mice have uncovered phenotypic features with age-dependent penetrance and variable expressivity, partially recapitulating the human BBS phenotype.
  21. ncbi M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance
    Agnieszka Pollak
    Institute of Physiology and Pathology of Hearing, Warsaw, Poland
    Am J Med Genet A 143:2534-43. 2007
    ..was to test a hypothesis that M34T and V37I are pathogenic but have distinct features resulting in a reduced penetrance. We screened for known GJB2/GJB6 mutations 233 Polish consecutive unrelated subjects with non-syndromic, ..
  22. pmc Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family
    D Gareth Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
    BMC Cancer 8:155. 2008
    ..However, considerable controversy exists regarding the cancer risks in women who test positive for the family mutation...
  23. ncbi Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle
    Jill Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, United Kingdom
    Dev Dyn 229:907-14. 2004
    ..Here, we show that placing the mutation onto different genetic backgrounds has a major effect on the penetrance and severity of the craniofacial and other defects...
  24. ncbi Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A
    Hua Wei Wang
    Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China
    Mutat Res 643:48-53. 2008
    The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex...
  25. pmc RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database
    José R Valverde
    Servicio de Informática, Centro Nacional de Biotecnologia, CSIC, Campus de Cantoblanco, Madrid, Spain
    BMC Genet 6:53. 2005
    ..The molecular scanning of RB1 in search of germ line mutations lead to the publication of more than 900 mutations whose knowledge is important for genetic counselling and the characterization of phenotypic-genotypic relationships...
  26. pmc Gene-environment interactions in Leber hereditary optic neuropathy
    Matthew Anthony Kirkman
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Brain 132:2317-26. 2009
    ..Environmental factors are thought to precipitate the visual failure and explain the marked incomplete penetrance of LHON, but previous small studies have failed to confirm this to be the case...
  27. pmc Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study
    Oliver W J Quarrell
    J Med Genet 44:e68. 2007
    To obtain penetrance data for Huntington's disease when DNA results are in the range of 36-39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres.
  28. ncbi Do haplogroups H and U act to increase the penetrance of Alzheimer's disease?
    Farzaneh Fesahat
    Khatam University, Tehran, Iran
    Cell Mol Neurobiol 27:329-34. 2007
    ..016 for haplogroup H and P = 0.0003 for haplogroup U), Thus, these two haplogroups might act synergistically to increase the penetrance of AD disease.
  29. pmc A method for estimating penetrance from families sampled for linkage analysis
    Yuanjia Wang
    Department of Statistics, Columbia University, New York, New York 10027, USA
    Biometrics 62:1081-8. 2006
    ..The purpose here is to present an approach to adjusting for the potential bias while using the families from linkage analysis to estimate the risk...
  30. ncbi Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy
    Elena Perli
    Department of Internal Medicine and Medical Specialities, Sapienza University of Rome, 00161 Roma, Italy
    Hum Mol Genet 21:85-100. 2012
    The genetic and epigenetic factors underlying the variable penetrance of homoplasmic mitochondrial DNA mutations are poorly understood. We investigated a 16-year-old patient with hypertrophic cardiomyopathy harboring a homoplasmic m...
  31. ncbi Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers
    Michelle Michels
    Department of Cardiology, Thoraxcenter, Erasmus MC Rotterdam, The Netherlands
    Eur Heart J 30:2593-8. 2009
    ..To investigate the outcome of cardiac evaluation and the risk stratification for sudden cardiac death (SCD) in asymptomatic hypertrophic cardiomyopathy (HCM) mutation carriers...
  32. doi Incomplete penetrance and variable expressivity: is there a microRNA connection?
    Jasmine K Ahluwalia
    Dr B R Ambedkar Centre for Biomedical Research, Delhi University, Delhi, India
    Bioessays 31:981-92. 2009
    Incomplete penetrance and variable expressivity are non-Mendelian phenomena resulting in the lack of correlation between genotype and phenotype...
  33. ncbi High- and low-penetrance cutaneous melanoma susceptibility genes
    Maria Concetta Fargnoli
    Department of Dermatology, University of L Aquila, Coppito 2, 67100 L Aquila, Italy
    Expert Rev Anticancer Ther 6:657-70. 2006
    ..To date, two high-penetrance melanoma susceptibility genes, cyclin-dependent kinas inhibitor (CDKN)2A on chromosome 9p21 and cyclin-dependent ..
  34. doi Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
    M Anheim
    INSERM, U975, Paris, France
    Neurology 78:417-20. 2012
    Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with ..
  35. ncbi A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
    J A Moolman
    Department of Experimental Cardiology, Max Planck Institute for Physiological and Clinical Research, Bad Nauheim, Germany
    Circulation 101:1396-402. 2000
    ..We report a mutation in the myosin-binding protein-C (MyBP-C) gene, its clinical consequences in a large family, and myocardial tissue findings that may provide insight into the mechanism of disease...
  36. doi Low penetrance breast cancer predisposition SNPs are site specific
    Niall Mcinerney
    Department of Surgery, Clinical Science Institute, University College Hospital, Galway, Ireland
    Breast Cancer Res Treat 117:151-9. 2009
    Large scale association studies have identified low penetrance susceptibility alleles that predispose to breast cancer. A locus on chromosome 8q24...
  37. pmc TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
    N Finch
    Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurology 76:467-74. 2011
    ....
  38. pmc Age-dependent penetrance of different germline mutations in the BRCA1 gene
    F Al-Mulla
    Department of Pathology, Safat, Kuwait
    J Clin Pathol 62:350-6. 2009
    ..This study addresses whether different exon mutations have variable expressivity especially in relation to the age of onset of breast cancer...
  39. ncbi The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status
    Tabib Dabir
    Department of Medical Genetics, Belfast City Hospital Trust, BT9 7AB, Belfast, UK
    Fam Cancer 5:201-4. 2006
    ..This mutation has been described in very few families worldwide and the spectrum of disease and natural history is unclear...
  40. doi Factors influencing disease phenotype and penetrance in HFE haemochromatosis
    J Rochette
    Universite de Picardie Jules Verne, UFR de Medecine, INSERM UMR, Amiens, France
    Hum Genet 128:233-48. 2010
    ..We discuss penetrance, explaining that this concept normally does not apply to autosomal recessive disorders, and discuss the ..
  41. pmc Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 91:97-108. 2012
    ..performed exome sequencing on 572 ClinSeq participants, and in 37 genes, we interpreted variants that cause high-penetrance cancer syndromes by using an algorithm that filtered results on the basis of mutation type, quality, and ..
  42. doi Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population
    J Sequeiros
    UnIGENe, IBMC Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal
    Clin Genet 78:381-7. 2010
    ..We estimated the frequency of large normal alleles (27-35 CAGs) and of reduced penetrance alleles (36-39 CAGs), as well as the frequency of genotypes carrying them, in (i) a diagnostic laboratory, (ii) ..
  43. ncbi A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy
    Nataliya Povalko
    Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830 0011, Japan
    Mitochondrion 5:194-9. 2005
    ..in 15 Russian LHON patients and found the new mtDNA sequence variant in one family (2 patients) who showed 100% penetrance of the disease in men...
  44. ncbi Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
    Xiaowen Tang
    Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Gene 393:11-9. 2007
    ..The penetrance of hearing loss in these pedigrees ranged from 3% to 29%, with an average of 13...
  45. doi Modelling the effects of penetrance and family size on rates of sporadic and familial disease
    Ammar Al-Chalabi
    Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, London, UK
    Hum Hered 71:281-8. 2011
    ..We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality.
  46. doi Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension
    John A Phillips
    Divisions of Medical Genetics, Vanderbilt University School of Medicine, Nashville, Tennessee 27232 2578, USA
    Genet Med 10:359-65. 2008
    ..that functional TGFbeta1 SNPs increase TGFbeta/BMP signaling imbalance in BMPR2 mutation heterozygotes to accelerate the age at diagnosis, increase the penetrance and SMAD2 expression in familial pulmonary arterial hypertension.
  47. doi Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study
    Ceres Fernández-Rozadilla
    Galician Public Foundation of Genomic Medicine FPGMX, CIBERER, Genomics Medicine Group, Hospital Clinico, Santiago de Compostela, University of Santiago de Compostela, Galicia, Spain
    Cancer Epidemiol Biomarkers Prev 19:619-23. 2010
    ..The rest of the susceptibility could be explained by a number of low-penetrance variants following a polygenic model of inheritance...
  48. pmc Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model
    Anne Laure Leoni
    INSERM, UMR915, l institut du thorax, Nantes, France
    PLoS ONE 5:e9298. 2010
    ..with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects...
  49. ncbi High-penetrance mouse model of acute promyelocytic leukemia with very low levels of PML-RARalpha expression
    Peter Westervelt
    Washington University, Division of Oncology, 660 S Euclid Ave, Campus Box 8007, St Louis, MO 63110 1093, USA
    Blood 102:1857-65. 2003
    ..in the cathepsin G locus and that a knock-in model might yield much higher expression levels and higher penetrance of disease...
  50. ncbi Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness
    Pu Dai
    Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China
    Biochem Biophys Res Commun 340:194-9. 2006
    ..Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss, ranging from 4% to 18%, with an average of 8%...
  51. ncbi Molecular basis of low-penetrance retinoblastoma
    J W Harbour
    Washington University, Campus Box 8069, 660 S Euclid Ave, St Louis, MO 63110, USA
    Arch Ophthalmol 119:1699-704. 2001
    ..Most families with hereditary retinoblastoma demonstrate autosomal dominant inheritance with almost complete penetrance and high expressivity...
  52. doi Penetrance analysis of the PALB2 c.1592delT founder mutation
    Hannele Erkko
    Laboratory of Cancer Genetics, Oulu University Hospital, Finland
    Clin Cancer Res 14:4667-71. 2008
    ..In the present study, we wanted to assess in more detail the increased risk (hazard ratio, HR) and the age-specific cumulative risk (penetrance) of c.1592delT with regard to susceptibility to breast and other forms of cancer.
  53. doi Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Jiaochang Donglu 32, Kunming, Yunnan 650223, China
    Biochem Biophys Res Commun 376:221-4. 2008
    ..Here we reported one three-generation Chinese family with a high penetrance of LHON (78.6%)...
  54. pmc Overcoming the winner's curse: estimating penetrance parameters from case-control data
    Sebastian Zollner
    Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA
    Am J Hum Genet 80:605-15. 2007
    ..After detection of significant association, estimates of penetrance and allele-frequency parameters for the associated variant indicate the importance of that variant and ..
  55. pmc Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees
    Fanny Stutzmann
    Centre National de la Recherche Scientifique 8090, Institute of Biology, Pasteur Institute, Lille, France
    Diabetes 57:2511-8. 2008
    ..However, there is uncertainty regarding the degree of penetrance of this condition, and the putative impact of the environment on the development of obesity in MC4R mutation ..
  56. ncbi The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
    P Bourgeois
    Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS INSERM U184, Institut de Chimie Biologique, Strasbourg Cedex, France
    Hum Mol Genet 7:945-57. 1998
    ..The twist -null mutant mouse model, combined with other mutant mouse strains, might also help in an understanding of the etiology of morphological abnormalities that appear in human patients affected by other syndromes...
  57. ncbi Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
    Anu Puomila
    Department of Medical Genetics, University of Turku, Turku, Finland
    Eur J Hum Genet 15:1079-89. 2007
    We have performed an entire-population-based survey of the epidemiology and penetrance of Leber hereditary optic neuropathy (LHON) in Finland - a country that is among the best-studied genetic isolates in the world...
  58. pmc A mechanism for low penetrance in an ALS family with a novel SOD1 deletion
    L Zinman
    Centre for Neurodegenerative Diseases, Department of Medicine, University of Toronto, 6 Queen s Park Crescent West, Toronto, Ontario, Canada, M5S 3H2
    Neurology 72:1153-9. 2009
    ..However, due to reduced mutation penetrance, the disease may present in a recessive or sporadic manner.
  59. pmc Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families
    V Plante-Bordeneuve
    J Med Genet 40:e120. 2003
  60. pmc Leber hereditary optic neuropathy
    P Y W Man
    Department of Neurology, School of Neurosciences and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK
    J Med Genet 39:162-9. 2002
    ..This marked incomplete penetrance and gender bias imply that additional mitochondrial and/or nuclear genetic factors must be modulating the ..
  61. ncbi Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background
    Neil Howell
    MitoKor, San Diego, California 92121, USA
    Am J Med Genet A 119:147-51. 2003
    The penetrance in Leber's hereditary optic neuropathy (LHON) pedigrees is determined primarily by a mutation in the mitochondrial genome (mtDNA), but secondary factors are also necessary for manifestation of the disorder...
  62. doi Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations
    Thomas Rio Frio
    Department of Medical Genetics, University of Lausanne, Rue du Bugnon 27, Lausanne 1005, Switzerland
    Hum Mol Genet 17:3154-65. 2008
    ..splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others have previously shown that penetrance is tightly correlated with PRPF31 expression, as ..
  63. pmc Low-penetrance susceptibility variants in familial colorectal cancer
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Cancer Epidemiol Biomarkers Prev 19:1478-83. 2010
    Genomewide association studies have identified 10 low-penetrance loci that confer modestly increased risk for colorectal cancer (CRC)...
  64. ncbi Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease
    Koen M A Dreijerink
    Department of Endocrinology, University Medical Centre Utrecht, PO Box 85 500, 3508 GA, Utrecht, The Netherlands
    Eur J Endocrinol 153:741-6. 2005
    ..The penetrance of MEN1 among gene carriers is reported to be high; 82-99% at age 50...
  65. pmc Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population
    Urban Hellman
    Medical and Clinical Genetics, Umea University, Umea, Sweden
    Amyloid 15:181-6. 2008
    ..The present study aims to estimate the penetrance in TTR Val30Met Swedish families...
  66. pmc Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    I Aksentijevich
    Genetics Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892 1820, USA
    Am J Hum Genet 64:949-62. 1999
    ..Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R...
  67. pmc Common genetic variants and modification of penetrance of BRCA2-associated breast cancer
    Mia M Gaudet
    Department of Epidemiology and Population Health and Department of Obstetrics and Gynecology and Women s Health, Albert Einstein College of Medicine, New York, New York, United States of America
    PLoS Genet 6:e1001183. 2010
    ..To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers...
  68. pmc Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
    T L McGee
    Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    Am J Hum Genet 61:1059-66. 1997
    A subset of families with autosomal dominant retinitis pigmentosa (RP) display reduced penetrance with some asymptomatic gene carriers showing no retinal abnormalities by ophthalmic examination or by electroretinography...
  69. pmc Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike
    Jiong Yan
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 80:518-25. 2007
    ..and Df(11)17-1/+, which have 2-Mb and 590-kb deletions, respectively, and Rai1(-/+)--revealed that the penetrance of the craniofacial phenotype appears to be influenced by deletion size and genetic background...
  70. pmc Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
    Isabelle Audo
    INSERM, UMRS968, Paris, F 75012, France
    BMC Med Genet 11:145. 2010
    ....
  71. pmc Identification of low penetrance alleles for lung cancer: the GEnetic Lung CAncer Predisposition Study (GELCAPS)
    Tim Eisen
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    BMC Cancer 8:244. 2008
    ....
  72. doi The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family
    Juhua Yang
    Biomedical Engineering Center, Fujian Medical University, 88 Jiaotong Road, Fuzhou, Fujian 350004, China
    Mitochondrion 9:273-8. 2009
    ..and genetic characterization of a Chinese Leber's hereditary optic neuropathy (LHON) family with complete penetrance and high percentage of recovery...
  73. ncbi Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma
    Sergio Ruiz-Llorente
    Hereditary Endocrine Cancer Group, Human Genetics Group, Biomedical Research Institute, CSIC, UAM, Madrid, Spain
    Cancer Res 67:9561-7. 2007
    ..To identify additional low-penetrance genes, we have done a two-stage case-control study in two European populations using high-throughput genotyping...
  74. pmc Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
    Wenping Cao
    Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China
    Mol Vis 15:70-5. 2009
    ..To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family...
  75. doi Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma
    Diana Mitter
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, Essen, 45122, Germany
    Fam Cancer 8:55-8. 2009
    ..Although oncogenic mutations in the terminal exons of the RB1 gene are rare molecular testing is important as those terminal mutations can be associated with incomplete penetrance and cause high recurrence risk in family members.
  76. pmc Detecting low penetrance genes in cancer: the way ahead
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK
    J Med Genet 37:161-7. 2000
    ..Here, we review the strategies available for identifying cancer predisposition genes of low and moderate penetrance.
  77. ncbi Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families
    Xiangtian Zhou
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003, China
    Biochem Biophys Res Commun 340:69-75. 2006
    ..Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees...
  78. ncbi Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenot
    Silvia Stojanov
    Department of Infectious Diseases Immunology, Children s Hospital, University of Munich, Munich, Germany
    Arthritis Rheum 50:1951-8. 2004
    ..findings and the spectrum of mevalonate kinase (MVK) gene mutations as well as an associated TNFRSF1A low-penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever ..
  79. ncbi Why have we failed to find the low penetrance genetic constituents of common cancers?
    Neil E Caporaso
    Genetic Epidemiology Branch, National Cancer Institute, Rockville, Maryland 20892, USA
    Cancer Epidemiol Biomarkers Prev 11:1544-9. 2002
  80. ncbi Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness
    Virginia W Norris
    Department of Biology, Gallaudet University, Washington, DC 20002, USA
    Ear Hear 27:732-41. 2006
    ..Considerable phenotypic variation has been noted however, including two anecdotal cases of apparent non penetrance at birth...
  81. ncbi Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?
    John C K Barber
    Am J Med Genet A 146:1899-901. 2008
  82. pmc The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer
    Steven J Hawken
    Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, ON, Canada
    Hum Genet 128:89-101. 2010
    ..Further genotyping and many more samples will be required, and indeed the discovery of many more risk loci associated with CRC before the question of the potential utility of germline genomic profiling can be definitively answered...
  83. ncbi Low penetrance genes associated with increased risk for breast cancer
    B L Weber
    Departments of Medicine and Genetics, University of Pennsylvania School of Medicine, 316 BRB II II, 422 Curie Boulevard, Philadelphia, PA 19104, USA
    Eur J Cancer 36:1193-9. 2000
    ..Two major susceptibility alleles, BRCA1 and BRCA2, have been identified, and the prevalence and penetrance of mutations in these genes have been studied extensively...
  84. pmc The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
    Erik F Hensen
    Department of Otolaryngology and Head and Neck Surgery, Leiden University Medical Center, Albinusdreef 2, PO Box 9600, Leiden 2300 RC, The Netherlands
    Eur J Hum Genet 18:62-6. 2010
    ..D92Y founder mutation. By using the Kaplan-Meier method, age-specific penetrance was calculated separately for paraganglioma formation as defined by magnetic resonance imaging (MRI) and for ..
  85. pmc Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance
    Jacqueline Milet
    INSERM U535, Villejuif, France
    Am J Hum Genet 81:799-807. 2007
    ..In the present study, we tested the association between common variants in candidate genes and hemochromatosis penetrance, in a large sample of C282Y homozygotes, using pretherapeutic serum ferritin level as marker of hemochromatosis ..
  86. pmc Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis
    Hana Abouzeid
    Jules Gonin Eye Hospital, Lausanne, Switzerland
    Mol Vis 15:771-7. 2009
    ..To study phenotype-genotype correlation in patients who have retinoma, which is a benign tumor resembling the post irradiation regression pattern of retinoblastoma (RB)...
  87. ncbi A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism
    Jan de Lange
    Department of Oral and Maxillofacial Surgery, Academic Medical Center Academic Center for Dentistry, Amsterdam, The Netherlands
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 103:378-81. 2007
  88. pmc A protein truncating BRCA1 allele with a low penetrance of breast cancer
    B Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
    J Med Genet 41:e130. 2004
  89. ncbi Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families
    Rachel A Peat
    The Neurogenetics Research Unit, Children s Hospital, Westmead, Sydney, Australia
    Neuromuscul Disord 17:547-57. 2007
    ..COL6A1 premature termination mutations exhibit variable penetrance necessitating a cautious approach to genetic counselling.
  90. pmc The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener's granulomatosis nor multiple sclerosis
    Dieter E Jenne
    Ann Rheum Dis 66:1266-7. 2007
  91. pmc Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
    Christine Zühlke
    Institute of Human Genetics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    BMC Med Genet 6:27. 2005
    ..Observed pathogenic expansions ranged from 43-63 glutamine (Gln) codons (Gln43-63). Reduced penetrance is known for Gln43-48 alleles...
  92. ncbi An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women
    Monica R McClain
    Foundation for Blood Research, Scarborough, Maine, USA
    Genet Med 7:34-9. 2005
    ..Reported estimates of the magnitude of this risk vary widely. We describe an integrated approach for assessing the plausibility of these estimates...
  93. pmc LRRK2 in Parkinson's disease - drawing the curtain of penetrance: a commentary
    Rejko Kruger
    Laboratory of Functional Neurogenomics, Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    BMC Med 6:33. 2008
    ..Based on these findings, Latourelle and colleagues show that the penetrance of the most common LRRK2 mutation is higher in patients with familial compared with sporadic Parkinson's disease ..
  94. pmc Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
    C Vaisse
    Centre National de la Recherche Scientifique, UPRES A 8090, Institute of Biology of Lille, Lille, France
    J Clin Invest 106:253-62. 2000
    ..Taken together, these results demonstrate that MC4-R mutations are a frequent but heterogeneous genetic cause of morbid obesity...
  95. pmc Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation
    Jia Qu
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Ophthalmology 116:558-564.e3. 2009
    ..To investigate the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families...
  96. ncbi Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders
    L Aigner
    Department of Neurology, University of Regensburg, Universitätsstr 84, D 93053 Regensburg, Germany
    Neurology 60:329-32. 2003
    ..The authors detected a high rate of somatic mosaicism in male and female patients with variable penetrance of bilateral SBH including nonpenetrance in a heterozygous woman...
  97. doi Age-related penetrance of hereditary atypical hemolytic uremic syndrome
    Maren Sullivan
    Department of Nephrology, Section of Preventive Medicine, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    Ann Hum Genet 75:639-47. 2011
    ..Mutation screening was performed using direct sequencing. Age-adjusted penetrance of aHUS was calculated for each gene in index cases and in mutation-positive relatives...
  98. pmc Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
    Frederik J Hes
    Department of Clinical Genetics, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, The Netherlands
    BMC Med Genet 11:92. 2010
    ..for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high...
  99. ncbi Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins
    G Holmgren
    Department of Biosciences, Unit of Clinical and Medical Genetics, Umea University Hospital, Umea, Sweden
    J Intern Med 256:453-6. 2004
    Familial amyloidotic polyneuropathy (FAP) is caused by mutated transthyretin in which valine at position 30 is substituted by methionine (ATTR Val30Met). FAP is inherited as an autosomal dominant trait with variable penetrance.
  100. pmc A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma
    S H Lefèvre
    J Med Genet 39:E21. 2002
  101. pmc Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
    A C Antoniou
    J Med Genet 42:602-3. 2005
    ..These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population...

Research Grants83

  1. Biochemistry and Molecular Biology Core
    Asish Saha; Fiscal Year: 2009
    ..Of relevance for endothelial vs. hematopoietic excision, constitutive VE-cadherin-Cre displays a 50-60% penetrance in hematopoietic lineage cells (4)...
  2. Molecular Mechanisms of Histone Acetyltransferases
    JOHN DENU; Fiscal Year: 2009
    ..epigenetic process can explain how genetically equivalent stem cells differentiate into diverse cell types, how penetrance of disease is modulated by nutrition and environment, and how organogenesis, tissue formation, and aging occur...
  3. Molecular Mechanisms of Histone Acetyltransferases
    John M Denu; Fiscal Year: 2010
    ..epigenetic process can explain how genetically equivalent stem cells differentiate into diverse cell types, how penetrance of disease is modulated by nutrition and environment, and how organogenesis, tissue formation, and aging occur...
  4. A Clinical and Molecular Analysis of the Brugada Syndrome
    Barry London; Fiscal Year: 2009
    ..a large family with Brugada syndrome characterized by progressive conduction disease, age- and sex-dependent penetrance, and minimal response to the Na+ channel blocker procainamide...
  5. A Clinical and Molecular Analysis of the Brugada Syndrome
    Barry London; Fiscal Year: 2010
    ..a large family with Brugada syndrome characterized by progressive conduction disease, age- and sex-dependent penetrance, and minimal response to the Na+ channel blocker procainamide...
  6. Synaptic target selection in Drosophila
    Kai Zinn; Fiscal Year: 2009
    ..We found 30 genes whose expression on all muscles causes high-penetrance axonal mistargeting phenotypes but does not perturb muscle structure...
  7. Genetic contributors to diabetes and dyslipidemia in African Americans
    Michele Sale; Fiscal Year: 2009
    ..We postulate that this unique combination of ancestral and environmental factors results in a more consistent penetrance of diabetes risk alleles, as well as enrichment of risk alleles of African origin...
  8. Synaptic target selection in Drosophila
    KAI G ZINN; Fiscal Year: 2010
    ..We found 30 genes whose expression on all muscles causes high-penetrance axonal mistargeting phenotypes but does not perturb muscle structure...
  9. Genetic contributors to diabetes and dyslipidemia in African Americans
    Michele M Sale; Fiscal Year: 2010
    ..We postulate that this unique combination of ancestral and environmental factors results in a more consistent penetrance of diabetes risk alleles, as well as enrichment of risk alleles of African origin...
  10. Genetic contributors to diabetes and dyslipidemia in African Americans
    Michele M Sale; Fiscal Year: 2010
    ..We postulate that this unique combination of ancestral and environmental factors results in a more consistent penetrance of diabetes risk alleles, as well as enrichment of risk alleles of African origin...
  11. CORE--MOLECULAR EPIDEMIOLOGY AND ECOGENETICS
    Margaret Spitz; Fiscal Year: 2001
    ..Of particular interest are the low penetrance genes that may modulate one's response to environmental exposures and contribute to the etiology of sporadic ..
  12. Mouse Models to Characterize the Role of Lrp6 in Metabolic Syndrome
    Bart O Williams; Fiscal Year: 2010
    ..This will direct expression specifically and with high penetrance to the liver...
  13. Mouse Models to Characterize the Role of Lrp6 in Metabolic Syndrome
    BART WILLIAMS; Fiscal Year: 2009
    ..This will direct expression specifically and with high penetrance to the liver...
  14. Molecular Studies of Bone Marrow Failure
    Monica Bessler; Fiscal Year: 2010
    ..During our last funding period we investigated the frequency, heritability, penetrance, and expressivity of mutations in TERC and in the telomerase catalytic subunit TERT in patients diagnosed with ..
  15. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2001
    ..A recently described low-penetrance germline mutation in codon I1307K of the APC gene that appears to increase colorectal cancer risk among ..
  16. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2003
    ..A recently described low-penetrance germline mutation in codon I1307K of the APC gene that appears to increase colorectal cancer risk among ..
  17. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2002
    ..A recently described low-penetrance germline mutation in codon I1307K of the APC gene that appears to increase colorectal cancer risk among ..
  18. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2000
    ..A recently described low-penetrance germline mutation in codon I1307K of the APC gene that appears to increase colorectal cancer risk among ..
  19. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 1999
    ..A recently described low-penetrance germline mutation in codon I1307K of the APC gene that appears to increase colorectal cancer risk among ..
  20. NEUROCOG, EMOT, & PHYS PHENOTYPE OF FRAGILE X FEMALES
    Randi Hagerman; Fiscal Year: 1990
    ..Some of the factors which affect this variation in penetrance for the heterozygote include her position in the pedigree, percent fragility and X-inactivation...
  21. Genetic Epidemiology of Melanoma
    David Elder; Fiscal Year: 2006
    ..the present funding cycle (09/01/01 to 08/31/06) we, GenoMEL, characterized the major effects of the known high penetrance melanoma susceptibility genes (cyclin dependent kinase [CDK] inhibitor 2A [CDKN2A] and CDK4) and increased ..
  22. Genetic Epidemiology of Melanoma
    David Elder; Fiscal Year: 2007
    ..the present funding cycle (09/01/01 to 08/31/06) we, GenoMEL, characterized the major effects of the known high penetrance melanoma susceptibility genes (cyclin dependent kinase [CDK] inhibitor 2A [CDKN2A] and CDK4) and increased ..
  23. Genetic Epidemiology of Melanoma
    DAVID ERIC ELDER; Fiscal Year: 2010
    ..the present funding cycle (09/01/01 to 08/31/06) we, GenoMEL, characterized the major effects of the known high penetrance melanoma susceptibility genes (cyclin dependent kinase [CDK] inhibitor 2A [CDKN2A] and CDK4) and increased ..
  24. Genetic Epidemiology of Melanoma
    David E Elder; Fiscal Year: 2009
    ..the present funding cycle (09/01/01 to 08/31/06) we, GenoMEL, characterized the major effects of the known high penetrance melanoma susceptibility genes (cyclin dependent kinase [CDK] inhibitor 2A [CDKN2A] and CDK4) and increased ..
  25. MECHANISMS OF CELL PROLIFERATION IN POLYCYSTIC KIDNEYS
    JAMES CALVET; Fiscal Year: 1990
    ..In humans, ADPKD is expressed with nearly complete penetrance and is a relatively common genetic disease...
  26. Do estrogen receptors in B cells and DC mediate sex bias in murine lupus?
    Susan Kovats; Fiscal Year: 2009
    ..The Sle1 and Sle3 lupus susceptibility loci present in NZM2410 mice direct increased penetrance of disease in females, which is consistent with studies showing that elevation of systemic estradiol or exposure ..
  27. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2009
    ..Mitochondrial 12S rRNA A1555G mutation has been found in many families of various ethnic origins with variable penetrance and expressivity of aminoglycoside-induced and non-syndromic hearing loss...
  28. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2010
    ..Mitochondrial 12S rRNA A1555G mutation has been found in many families of various ethnic origins with variable penetrance and expressivity of aminoglycoside-induced and non-syndromic hearing loss...
  29. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2009
    ..Mitochondrial 12S rRNA A1555G mutation has been found in many families of various ethnic origins with variable penetrance and expressivity of aminoglycoside-induced and non-syndromic hearing loss...
  30. Novel SIV Model of HAND
    Joseph L Mankowski; Fiscal Year: 2012
    ..very similar to HAART in HIV-infected individuals, combining classes of antiretroviral drugs that have low CNS penetrance. The value of this model is: 1) Both CD4+ T cells and monocyte/macrophages are infected, 2) tissues including ..
  31. Molecular Foundations of the Myoclonus-Dystonia Syndrome
    Mark leDoux; Fiscal Year: 2005
    ..Rarely, dystonia may be the only phenotypic manifestation of the disease in an affected family member. Penetrance is incomplete and expressivity is variable both within and among families...
  32. Molecular Foundations of the Myoclonus-Dystonia Syndrome
    Mark leDoux; Fiscal Year: 2006
    ..Rarely, dystonia may be the only phenotypic manifestation of the disease in an affected family member. Penetrance is incomplete and expressivity is variable both within and among families...
  33. RECEPTOR DIVERSITY IN RECOGNITION OF INFLUENZA HA
    Andrew Caton; Fiscal Year: 2009
    ..Moreover, the penetrance of arthritis could be modulated by varying the reactivity of CD4+ T cells for the HA, since the majority of mice ..
  34. Pesticide Interactions in LRRK2 Transgenic Models
    AMY MANNING BOG; Fiscal Year: 2009
    ..LRRK2 mutations are also associated with penetrance that is age-dependent with age of onset ranging from that of typical sporadic PD to as late as the tenth decade...
  35. Kinase Signaling in Lung Tumorigenesis
    Jonathan M Kurie; Fiscal Year: 2010
    ..Mice that express oncogenic K-ras develop lung adenocarcinomas with high penetrance, but the long latency periods and low metastatic potential of these tumors imply that K-ras mutations are only ..
  36. Determinants of Disease Expression in Arrhythmogenic Cardiomyopathy
    Jeffrey Saffitz; Fiscal Year: 2009
    ..to other familial non-ischemic cardiomyopathies, ARVC is characterized by far greater variability in genetic penetrance and disease manifestation1...
  37. "Mucins of the Ocular Surface"
    Ilene Gipson; Fiscal Year: 2009
    ..epithelium at the tear film interface are also hypothesized to be a barrier to pathogen and large molecule penetrance. Building on the characterizations of membrane associated mucins of the ocular surface and on the systems ..
  38. "Mucins of the Ocular Surface"
    Ilene K Gipson; Fiscal Year: 2010
    ..epithelium at the tear film interface are also hypothesized to be a barrier to pathogen and large molecule penetrance. Building on the characterizations of membrane associated mucins of the ocular surface and on the systems ..
  39. Kinase Signaling in Lung Tumorigenesis
    Jonathan Kurie; Fiscal Year: 2009
    ..Mice that express oncogenic K-ras develop lung adenocarcinomas with high penetrance, but the long latency periods and low metastatic potential of these tumors imply that K-ras mutations are only ..
  40. Determinants of Disease Expression in Arrhythmogenic Cardiomyopathy
    Jeffrey E Saffitz; Fiscal Year: 2010
    ..to other familial non-ischemic cardiomyopathies, ARVC is characterized by far greater variability in genetic penetrance and disease manifestation1...
  41. MUCINS OF THE OCULAR SURFACE
    Ilene Gipson; Fiscal Year: 2006
    ..epithelium at the tear film interface are also hypothesized to be a barrier to pathogen and large molecule penetrance. Building on the characterizations of membrane associated mucins of the ocular surface and on the systems ..
  42. "Mucins of the Ocular Surface"
    Ilene Gipson; Fiscal Year: 2009
    ..epithelium at the tear film interface are also hypothesized to be a barrier to pathogen and large molecule penetrance. Building on the characterizations of membrane associated mucins of the ocular surface and on the systems ..
  43. "Mucins of the Ocular Surface"
    Ilene Gipson; Fiscal Year: 2007
    ..epithelium at the tear film interface are also hypothesized to be a barrier to pathogen and large molecule penetrance. Building on the characterizations of membrane associated mucins of the ocular surface and on the systems ..
  44. Sodium Channels and Cardiac Arrhythmias
    Isabelle Deschenes; Fiscal Year: 2010
    ..Syndrome (BrS) which are autosomal dominant diseases, these more common arrhythmias also display variable penetrance. There are several prevailing hypotheses that have attempted to explain why a particular gene expression pattern ..
  45. Production of animal models to define how CTLA-4 impacts to T1D susceptibility
    Joonsoo Kang; Fiscal Year: 2009
    ..mouse model of T1D in diabetes resistant C57BL/6 (B6) background, which develops spontaneous insulitis with 100% penetrance, but does not progress to full-blown diabetes...
  46. Genetic modifiers of hemochromatosis phenotype
    Dorota Gertig; Fiscal Year: 2006
    ..b>Penetrance is age-dependent and it is estimated that only about half of all C282Y homozygotes will express clinical disease...
  47. Genetic modifiers of hemochromatosis phenotype
    Dorota Gertig; Fiscal Year: 2005
    ..b>Penetrance is age-dependent and it is estimated that only about half of all C282Y homozygotes will express clinical disease...
  48. Nuclear modifier genes for maternally inherited deafness
    Min Xin Guan; Fiscal Year: 2007
    ..Mitochondrial 12S rRNA A1555G mutation has been found in many families of various ethnic origins with variable penetrance and expressivity of aminoglycoside-induced and non-syndromic hearing loss...
  49. Genetic modifiers of hemochromatosis phenotype
    Dorota Gertig; Fiscal Year: 2004
    ..b>Penetrance is age-dependent and it is estimated that only about half of all C282Y homozygotes will express clinical disease...
  50. GENETIC ANALYSIS OF BREAST CANCER IN FAMILIES
    Mary Claire King; Fiscal Year: 1991
    ..analysis of multiple-case families, so long as complexities such as age- and sex-dependent risk, incomplete penetrance, a high background rate of noninherited (sporadic) disease, and possible linkage heterogeneity are included...
  51. Synaptic target selection in Drosophila
    KAI G ZINN; Fiscal Year: 2010
    ..We found 30 genes whose expression on all muscles causes high-penetrance axonal mistargeting phenotypes but does not perturb muscle structure...
  52. APPLYING GENOME MISMATCH SCANNING TO THE HUMAN GENOME
    Patrick Brown; Fiscal Year: 1999
    ..that are relatively common in the population, heterogeneous in etiology,or that result from alleles with low penetrance, represents a principal challenge at the frontier of human genetics...
  53. Murine Models for Mantle Cell Lymphoma: The role of tumor initiating cells (TIC)
    Richard Ford; Fiscal Year: 2009
    ..DTG mice stochastically develop NHL-B resembling aggressive MCL-BV by 3-4 months (100% penetrance), allowing for sequential and defined patho-physiologic characterization of molecular and genotypic alterations ..
  54. Genetic Basis of Congenital Anophthalmia
    THOMAS M GLASER; Fiscal Year: 2012
    ..but autosomal recessive, dominant and X-linked inheritance patterns have been described, often with reduced penetrance. Mutations in few genes have been identified, including transcription factors PAX6, CHX10, RX, SOX2 and OTX2, ..
  55. Functional investigation of hemojuvelin in regulation of hepcidin expression
    An Sheng Zhang; Fiscal Year: 2009
    ..Juvenile hemochromatosis (JH) is the most severe form of HH. It is an autosomal recessive disease with high penetrance that affects young patients of both sexes and leads to severe clinical complications typically in the teens and ..
  56. Genetic Basis of Congenital Anophthalmia
    THOMAS M GLASER; Fiscal Year: 2010
    ..but autosomal recessive, dominant and X-linked inheritance patterns have been described, often with reduced penetrance. Mutations in few genes have been identified, including transcription factors PAX6, CHX10, RX, SOX2 and OTX2, ..
  57. Genetic Basis of Congenital Anophthalmia
    Thomas Glaser; Fiscal Year: 2009
    ..but autosomal recessive, dominant and X-linked inheritance patterns have been described, often with reduced penetrance. Mutations in few genes have been identified, including transcription factors PAX6, CHX10, RX, SOX2 and OTX2, ..
  58. Functional investigation of hemojuvelin in regulation of hepcidin expression
    An Sheng Zhang; Fiscal Year: 2010
    ..Juvenile hemochromatosis (JH) is the most severe form of HH. It is an autosomal recessive disease with high penetrance that affects young patients of both sexes and leads to severe clinical complications typically in the teens and ..
  59. Nanomedicine and NeuroAIDS
    Howard E Gendelman; Fiscal Year: 2010
    ..virus inside its central nervous system (CNS) sanctuary is affected by variable antiretroviral therapy (ART) penetrance across the blood-brain barrier (BBB), complex dosing regimens, costs, toxicities, and limitations in ..
  60. Molecular Epidemiology of NHL and CLL
    James R Cerhan; Fiscal Year: 2010
    ..for several candidate susceptibility genes in the etiology of NHL, supporting a polygenic model based on low-penetrance alleles in line with the common-variant, common- disease hypothesis...
  61. Molecular Epidemiology of NHL and CLL
    James Cerhan; Fiscal Year: 2009
    ..for several candidate susceptibility genes in the etiology of NHL, supporting a polygenic model based on low-penetrance alleles in line with the common-variant, common- disease hypothesis...
  62. Nanomedicine and NeuroAIDS
    HOWARD GENDELMAN; Fiscal Year: 2009
    ..virus inside its central nervous system (CNS) sanctuary is affected by variable antiretroviral therapy (ART) penetrance across the blood-brain barrier (BBB), complex dosing regimens, costs, toxicities, and limitations in ..
  63. Molecular Epidemiology of NHL and CLL
    James Cerhan; Fiscal Year: 2009
    ..for several candidate susceptibility genes in the etiology of NHL, supporting a polygenic model based on low-penetrance alleles in line with the common-variant, common- disease hypothesis...
  64. PULMONARY HYPERTENSION--MECHANISMS AND FAMILY REGISTRY
    James Loyd; Fiscal Year: 1999
    ..of 72 families, FPPH has been shown to be inherited as an autosomal dominant disorder, with incomplete penetrance and genetic anticipation...
  65. PULMONARY HYPERTENSION--MECHANISMS AND FAMILY REGISTRY
    James Loyd; Fiscal Year: 2002
    ..of 72 families, FPPH has been shown to be inherited as an autosomal dominant disorder, with incomplete penetrance and genetic anticipation...
  66. PULMONARY HYPERTENSION--MECHANISMS AND FAMILY REGISTRY
    James Loyd; Fiscal Year: 2001
    ..of 72 families, FPPH has been shown to be inherited as an autosomal dominant disorder, with incomplete penetrance and genetic anticipation...
  67. Antioxidant Therapy for Ataxia Telangiectasia
    ROBERT SCHIESTL; Fiscal Year: 2009
    ATM (ataxia telangiectasia mutated) heterozygosity seems to be a risk factor for cancer. Even though the penetrance seems to be low, because of the high prevalence of 1-5% in the human population, the population risk is higher than for ..
  68. Identifying Disease Variants for Familial Crohns Disease
    STEVEN BRANT; Fiscal Year: 2009
    ..Multiple low penetrance susceptibility genes have been identified and confirmed, but these in total account for only 20% of CD genetic ..
  69. PULMONARY HYPERTENSION--MECHANISMS AND FAMILY REGISTRY
    James Loyd; Fiscal Year: 2000
    ..of 72 families, FPPH has been shown to be inherited as an autosomal dominant disorder, with incomplete penetrance and genetic anticipation...
  70. PULMONARY HYPERTENSION--MECHANISMS AND FAMILY REGISTRY
    James Loyd; Fiscal Year: 2003
    ..of 72 families, FPPH has been shown to be inherited as an autosomal dominant disorder, with incomplete penetrance and genetic anticipation...
  71. Ocular Dysgenesis in Agrin Transgenic Mice
    Robert Burgess; Fiscal Year: 2006
    ..The phenotype is also strain dependent, occurring only in a C57BL/6 genetic background, but with complete penetrance in that strain...
  72. Ocular Dysgenesis in Agrin Transgenic Mice
    Robert Burgess; Fiscal Year: 2005
    ..The phenotype is also strain dependent, occurring only in a C57BL/6 genetic background, but with complete penetrance in that strain...
  73. Ocular Dysgenesis in Agrin Transgenic Mice
    Robert Burgess; Fiscal Year: 2007
    ..The phenotype is also strain dependent, occurring only in a C57BL/6 genetic background, but with complete penetrance in that strain...
  74. FAMILIAL PULMONARY FIBROSIS
    David Riley; Fiscal Year: 1990
    ..The mode of inheritance is compatible with that of an autosomal dominant gene with variable penetrance. The overall goal of this proposal is to study the molecular genetics of familial pulmonary fibrosis...
  75. MUTATION AND GENETIC ANALYSIS OF NEUROFIBROMATOSIS
    Margaret Wallace; Fiscal Year: 1993
    ..Secondly, the issue of penetrance is not clear-do all individuals with constitutional NF1 mutations express symptoms? Penetrance will be studied ..
  76. MOLECULAR ETIOLOGY OF EARLY ONSET TORSION DYSTONIA
    Xandra Breakefield; Fiscal Year: 2001
    ..The DYTl gene responsible for this condition is inherited in an autosomal dominant manner with low penetrance and has been recently cloned by our group...