Nazneen Rahman

Summary

Affiliation: Institute of Cancer Research
Country: UK

Publications

  1. ncbi request reprint Mechanisms predisposing to childhood overgrowth and cancer
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Curr Opin Genet Dev 15:227-33. 2005
  2. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
  3. pmc PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Nat Genet 39:165-7. 2007
  4. ncbi request reprint Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Hum Mol Genet 16:R60-6. 2007
  5. ncbi request reprint ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    Anthony Renwick
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Nat Genet 38:873-5. 2006
  6. pmc Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
    Katrina Tatton-Brown
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 77:193-204. 2005
  7. pmc Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14
    Elise Ruark
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
    Nat Genet 45:686-9. 2013
  8. pmc Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
    Clare Turnbull
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:604-7. 2010
  9. doi request reprint Gene-gene interactions in breast cancer susceptibility
    Clare Turnbull
    Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 21:958-62. 2012
  10. ncbi request reprint 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

Detail Information

Publications69

  1. ncbi request reprint Mechanisms predisposing to childhood overgrowth and cancer
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Curr Opin Genet Dev 15:227-33. 2005
    ..Elucidation of the mechanisms underlying cancer in overgrowth syndromes might yield important insights into the molecular basis of childhood tumors...
  2. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
    ..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
  3. pmc PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Nat Genet 39:165-7. 2007
    ..i.) = 1.4-3.9, P = 0.0025). The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia-DNA repair pathway and breast cancer predisposition...
  4. ncbi request reprint Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Hum Mol Genet 16:R60-6. 2007
    ..These observations raise interesting implications with respect to the identification and phenotypic characterization of cancer predisposition genes...
  5. ncbi request reprint ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    Anthony Renwick
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Nat Genet 38:873-5. 2006
    ..37 (95% confidence interval (c.i.) = 1.51-3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer...
  6. pmc Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
    Katrina Tatton-Brown
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 77:193-204. 2005
    ..005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness...
  7. pmc Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14
    Elise Ruark
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
    Nat Genet 45:686-9. 2013
    ..3, is required for the regulation of germ cell development. Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation...
  8. pmc Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
    Clare Turnbull
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:604-7. 2010
    ..Finally, we identified a locus on chromosome 9 (rs755383, OR=1.37, P=1.12x10(-23)), containing the sex determination gene DMRT1, which has been linked to teratoma susceptibility in mice...
  9. doi request reprint Gene-gene interactions in breast cancer susceptibility
    Clare Turnbull
    Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 21:958-62. 2012
    ..These findings have important implications for models of disease predisposition and clinical translation...
  10. ncbi request reprint 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...
  11. pmc Mutation and association analysis of GEN1 in breast cancer susceptibility
    Clare Turnbull
    Section of Cancer Genetics, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Breast Cancer Res Treat 124:283-8. 2010
    ....
  12. pmc Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
    Katie Snape
    Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Breast Cancer Res Treat 134:429-33. 2012
    ..Exome sequencing in common conditions will therefore require intelligent sample and variant prioritisation strategies in large case-control studies to deliver robust genetic evidence of disease association...
  13. pmc Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
    Katrina Tatton-Brown
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
    Oncotarget 2:1127-33. 2011
    ..Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth...
  14. doi request reprint Genetic predisposition to breast cancer: past, present, and future
    Clare Turnbull
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, SM2 5NG, United Kingdom
    Annu Rev Genomics Hum Genet 9:321-45. 2008
    ....
  15. ncbi request reprint Evaluation of NSD2 and NSD3 in overgrowth syndromes
    Jenny Douglas
    Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Eur J Hum Genet 13:150-3. 2005
    ....
  16. ncbi request reprint Evaluation of Fanconi Anemia genes in familial breast cancer predisposition
    Sheila Seal
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Cancer Res 63:8596-9. 2003
    ..The results indicate that FA gene mutations, other than in BRCA2, are unlikely to be a frequent cause of highly penetrant breast cancer predisposition...
  17. pmc A genome-wide association study identifies susceptibility loci for Wilms tumor
    Clare Turnbull
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
    Nat Genet 44:681-4. 2012
    ..32 × 10(-14)) and 11q14 (rs790356, P = 4.25 × 10(-15)). Both regions contain genes that are plausibly related to Wilms tumorigenesis. We also identified candidate association signals at 5q14, 22q12 and Xp22...
  18. ncbi request reprint Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    Sarah Reid
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Nat Genet 39:162-4. 2007
    ....
  19. pmc Stratification of Wilms tumor by genetic and epigenetic analysis
    Richard H Scott
    Division of Genetics and Epidemiology, Institute of Cancer Research and Royal Marsden Hospital, Sutton, UK
    Oncotarget 3:327-35. 2012
    ..001). These data provide new insights into the pattern, order, interactions and clinical associations of molecular events in Wilms tumor...
  20. pmc Genome-wide association studies identify four ER negative-specific breast cancer risk loci
    Montserrat Garcia-Closas
    1 Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK 2 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK 3
    Nat Genet 45:392-8, 398e1-2. 2013
    ..0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers...
  21. ncbi request reprint Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
    Sandra Hanks
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 36:1159-61. 2004
    ..These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development...
  22. ncbi request reprint Aneuploidy-cancer predisposition syndromes: a new link between the mitotic spindle checkpoint and cancer
    Sandra Hanks
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Cell Cycle 4:225-7. 2005
    ..This finding strongly suggests that aneuploidy is causally related to cancer development...
  23. doi request reprint A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma
    Fatemeh Abbaszadeh
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Fam Cancer 9:425-30. 2010
    ..Overall, these data suggest that families with both Wilms tumor and neuroblastoma represent a previously unrecognized familial cancer syndrome in which the underlying predisposition gene(s) remain to be determined...
  24. doi request reprint Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma
    Ingrid Slade
    Section of Cancer Genetics, Institute of Cancer Research and Royal Marsden Hospital, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Fam Cancer 10:337-42. 2011
    ....
  25. doi request reprint Germline mutations in RAD51D confer susceptibility to ovarian cancer
    Chey Loveday
    Section of Cancer Genetics, The Institute of Cancer Research, Sutton, UK
    Nat Genet 43:879-82. 2011
    ..Moreover, we show that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers...
  26. pmc Genome-wide association study identifies five new breast cancer susceptibility loci
    Clare Turnbull
    Section of Cancer Genetics, The Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:504-7. 2010
    ....
  27. ncbi request reprint Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome
    Sandra Hanks
    Section of Cancer Genetics, Institute of Cancer Research, Brookes Lawley Building, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Cancer Lett 239:234-8. 2006
    ..These data suggest that the genetic progression in rhabdomyosarcoma from MVA and non-MVA cases may be similar, but that somatic BUB1B mutations are unlikely to be common in sporadic childhood cancers known to be associated with MVA...
  28. ncbi request reprint Sotos syndrome
    Katrina Tatton-Brown
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Eur J Hum Genet 15:264-71. 2007
    ..More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed...
  29. pmc Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
    Katie Snape
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Nat Genet 43:527-9. 2011
    ..CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division...
  30. doi request reprint The NSD1 and EZH2 overgrowth genes, similarities and differences
    Katrina Tatton-Brown
    Institute of Cancer Research, St George s University of London and the Royal Marsden Hospital, London, UK
    Am J Med Genet C Semin Med Genet 163:86-91. 2013
    ..However, studies are underway to address these and, as more cases are ascertained and technology improves, it is hoped that these will, in time, be answered...
  31. ncbi request reprint Clinical features of NSD1-positive Sotos syndrome
    Katrina Tatton-Brown
    Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Clin Dysmorphol 13:199-204. 2004
    ..A mutation or microdeletion of NSD1 is diagnostic of Sotos syndrome...
  32. doi request reprint Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
    Richard H Scott
    Section of Cancer Genetics, Institute of Cancer Research and Royal Marsden Hospital, Sutton, Surrey, SM2 5NG, UK
    Nat Genet 40:1329-34. 2008
    ..The impact on clinical management dictates that constitutional 11p15 analysis should be considered in all individuals with Wilms tumor...
  33. doi request reprint DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
    Ingrid Slade
    Section of Cancer Genetics, Institute of Cancer Research and Royal Marsden Hospital, 15 Cotswold Road, Sutton SM2 5NG, UK
    J Med Genet 48:273-8. 2011
    ..Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB)...
  34. ncbi request reprint The emerging landscape of breast cancer susceptibility
    Michael R Stratton
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Nat Genet 40:17-22. 2008
    ..These recent advances herald a new chapter in the exploration of susceptibility to breast cancer and are likely to provide insights relevant to other common, heterogeneous diseases...
  35. ncbi request reprint Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations
    Richard H Scott
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Nat Clin Pract Oncol 4:130-4. 2007
    ..It is important to consider this diagnosis in children presenting with malignancy and abnormal skin pigmentation, even in the absence of a strong family history of tumors...
  36. ncbi request reprint Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
    Jenny Douglas
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Nat Genet 39:963-5. 2007
    ..These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases...
  37. pmc NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
    Jenny Douglas
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 72:132-43. 2003
    ..We conclude that intragenic mutations of NSD1 are the major cause of Sotos syndrome and account for some Weaver syndrome cases but rarely occur in other childhood overgrowth phenotypes...
  38. pmc Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, Brooks Lawley Building, 15 Cotswold Road, Sutton, Surrey SM2 5NG, United Kingdom
    Am J Hum Genet 73:198-204. 2003
    ..Mutational screening of the microfibril-associated glycoprotein-2 gene, a strong candidate within the minimal interval, did not reveal any likely pathogenic mutations...
  39. pmc Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
    Sandra Hanks
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 73:791-800. 2003
    ..These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions...
  40. pmc Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations
    Richard H Scott
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK, SM2 5NG
    J Med Genet 44:e83. 2007
    ....
  41. pmc The gene for juvenile hyaline fibromatosis maps to chromosome 4q21
    Nazneen Rahman
    Section of Cancer Genetics, Institute of Cancer Research, Surrey, United Kingdom
    Am J Hum Genet 71:975-80. 2002
    ..5). Meiotic recombinants place the gene for JHF within a 7-cM interval bounded by D4S2393 and D4S395...
  42. doi request reprint Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
    Katrina Tatton-Brown
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
    Am J Med Genet A 161:2972-80. 2013
    ..As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve...
  43. pmc A genome-wide association study of testicular germ cell tumor
    Elizabeth A Rapley
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 41:807-10. 2009
    ..05-3.19), P = 10(-31)). KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12...
  44. ncbi request reprint A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome
    Suzanne Little
    Section of Paediatric Oncology, Institute of Cancer Research, Sutton, Surrey, UK
    Pediatr Nephrol 20:81-5. 2005
    ..Our results provide important physiological evidence that the first 40 amino acids of WT1 are capable of functionally important interactions, presumably through their ability to self-associate with full-length WT1...
  45. ncbi request reprint Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study
    Suzanne E Little
    Paediatric Oncology Unit, The Royal Marsden NHS Trust, Downs Rd, Sutton, Surrey, SM2 5PT United Kingdom
    J Clin Oncol 22:4140-6. 2004
    ..We sought to ascertain the frequency and heritability of constitutional WT1 mutations in nonsyndromic WT patients...
  46. pmc Chromosome 6p22 locus associated with clinically aggressive neuroblastoma
    John M Maris
    Division of Oncology and the Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    N Engl J Med 358:2585-93. 2008
    ..Neuroblastoma is a malignant condition of the developing sympathetic nervous system that most commonly affects young children and is often lethal. Its cause is not known...
  47. ncbi request reprint Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
    ....
  48. pmc Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility
    Mieke Schutte
    Department of Medical Oncology, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 72:1023-8. 2003
    ..These results indicate that 1100delC may be the only CHEK2 allele that makes an appreciable contribution to breast cancer susceptibility...
  49. ncbi request reprint Skeletal muscle involvement in infantile systemic hyalinosis
    Zarazuela Zolkipli
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammesmith Hospital, Imperial College London, London W12 0NN, UK
    Eur J Paediatr Neurol 7:401-6. 2003
    ..Muscle biopsy revealed myopathic changes, which have not been reported previously. We suggest that skeletal muscle is involved in Infantile Systemic Hyalinosis and contributes to the characteristic poor outcome of these patients...
  50. ncbi request reprint A new gene on the X involved in Fanconi anemia
    Nazneen Rahman
    Nat Genet 36:1142-3. 2004
  51. ncbi request reprint Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24
    Meriel E McEntagart
    Department of Medical Genetics, St George s Hospital Medical School, London, United Kingdom
    Ann Neurol 57:293-7. 2005
    ..Combined analysis generated a multipoint LOD score of 2.1 at marker D12S1583 and refined the HMSN IIC gene interval to The clinical and molecular findings are discussed...
  52. ncbi request reprint Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization
    Goran Jonsson
    Department of Oncology, University Hospital, Lund, Sweden
    Cancer Res 65:7612-21. 2005
    ..00005, respectively). Further validation may prove this tumor classifier to be useful for selecting familial breast cancer cases for further mutation screening, particularly, as these data can be obtained using archival tissue...
  53. ncbi request reprint Familial gigantism caused by an NSD1 mutation
    Mieke M van Haelst
    Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands
    Am J Med Genet A 139:40-4. 2005
    ..Manifestations in the present family include dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent...
  54. pmc A genome wide linkage search for breast cancer susceptibility genes
    Paula Smith
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Genes Chromosomes Cancer 45:646-55. 2006
    ..They also indicate that no single gene is likely to account for a large fraction of the familial aggregation of breast cancer that is not due to mutations in BRCA1 or BRCA2...
  55. ncbi request reprint PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations
    Carmel McConville
    Division of Reproductive and Child Health and CRUK Institute for Cancer Studies, University of Birmingham, Birmingham, UK
    Am J Med Genet A 140:1297-301. 2006
    ..This provides further evidence that the underlying PHOX2B mutational mechanism influences tumor risk and suggests that the position of missense mutations may influence the resulting phenotype...
  56. pmc A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers
    Deborah Thompson
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 15:2542-5. 2006
    ..Our results suggest that the risk of cancer associated with CHEK2 1100delC mutations is restricted to breast cancer, although we cannot rule out a small increase in overall cancer risk...
  57. ncbi request reprint Evaluation of RAD50 in familial breast cancer predisposition
    Johanna Tommiska
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    Int J Cancer 118:2911-6. 2006
    ..Altogether, these results suggest RAD50 can only be making a very minor contribution to familial breast cancer predisposition in UK and Finland...
  58. ncbi request reprint Estrogen receptor status could modulate the genomic pattern in familial and sporadic breast cancer
    Lorenzo Melchor
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center CNIO, Madrid, Spain
    Clin Cancer Res 13:7305-13. 2007
    ....
  59. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007
    ..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
  60. pmc Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease
    Sheila A Fisher
    Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Nat Genet 40:710-2. 2008
    ..These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases...
  61. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  62. pmc A census of human cancer genes
    P Andrew Futreal
    Cancer Genome Project, Human Genome Analysis Group and Pfam Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambs, CB10 1SA, UK
    Nat Rev Cancer 4:177-83. 2004
  63. pmc Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
    Deborah Thompson
    CRC Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge CB1 4RN, United Kingdom
    Proc Natl Acad Sci U S A 99:827-31. 2002
    ..65 was -11.0]. We conclude that, if a susceptibility gene does exist at this locus, it can only account for a small proportion of non-BRCA1/2 families with multiple cases of early-onset breast cancer...
  64. pmc Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
    Paul R Burton
    Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
    Nat Genet 39:1329-37. 2007
    ....
  65. ncbi request reprint Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
    Matthias T F Wolf
    Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan 48109, USA
    Kidney Int 64:1580-7. 2003
    ..In contrast, recently, another group described mutations in the UMOD gene as responsible for MCKD2 and familial juvenile hyperuricemic nephropathy (FJHN)...
  66. ncbi request reprint Periodontal treatment of two siblings with juvenile hyaline fibromatosis
    Sema S Hakki
    Department of Periodontology, Faculty of Dentistry, Selcuk University, Konya, Turkey
    J Clin Periodontol 32:1016-21. 2005
    ..In this case report, periodontal status, treatment and follow-up together with histopathologic evaluation of gingival tissue specimens and mutation screening of two JHF cases are presented...
  67. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  68. ncbi request reprint A common coding variant in CASP8 is associated with breast cancer risk
    Angela Cox
    Sheffield University Medical School, Sheffield S10 2RX, UK
    Nat Genet 39:352-8. 2007
    ..02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies...
  69. pmc Common variants near MC4R are associated with fat mass, weight and risk of obesity
    Ruth J F Loos
    MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    Nat Genet 40:768-75. 2008
    ....