All Stories

  1. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
  2. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
  3. Impact of Serotherapy on Immune Reconstitution and Survival Outcomes After Stem Cell Transplantations in Children: Thymoglobulin Versus Alemtuzumab
  4. Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk
  5. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
  6. The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals
  7. Macrophages inhibit human osteosarcoma cell growth after activation with the bacterial cell wall derivative liposomal muramyl tripeptide in combination with interferon-γ
  8. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
  9. The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients
  10. Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations
  11. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
  12. Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility
  13. Value-based healthcare in Lynch syndrome
  14. CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer
  15. Reply to Win and Jenkins
  16. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
  17. Genetic modifiers of cancer risk in Lynch syndrome: a review
  18. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
  19. Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling
  20. Variants of Uncertain Significance inBRCA1andBRCA2assessment of in silico analysis and a proposal for communication in genetic counselling
  21. Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
  22. Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
  23. Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1
  24. Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome
  25. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
  26. Insertion of an SVA element, a nonautonomous retrotransposon, inPMS2intron 7 as a novel cause of lynch syndrome
  27. Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing
  28. MUTYH gene variants and breast cancer in a Dutch case–control study
  29. A review of the genetic background and tumour profiling in familial colorectal cancer
  30. Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts
  31. 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome
  32. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
  33. Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors
  34. Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
  35. Increased frequency of 20q gain and copy-neutral loss of heterozygosity in mismatch repair proficient familial colorectal carcinomas
  36. Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
  37. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations
  38. Novel MLH1 duplication identified in Colombian families with Lynch syndrome
  39. Leiden open variation database of the MUTYH gene
  40. Peutz-Jeghers syndrome: a systematic review and recommendations for management
  41. A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1
  42. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer
  43. Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy
  44. Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer
  45. Quantification of sequence exchange events betweenPMS2andPMS2CLprovides a basis for improved mutation scanning of Lynch syndrome patients
  46. Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer
  47. COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer
  48. Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort
  49. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
  50. Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic
  51. A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
  52. Introduction to molecular and clinical genetics of colorectal cancer syndromes
  53. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2genes based on cancer family history
  54. Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs
  55. Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome
  56. No evidence that GATA3 rs570613 SNP modifies breast cancer risk
  57. High frequency of copy-neutral LOH inMUTYH-associated polyposis carcinomas
  58. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
  59. CHEK2 1100delC Is a Susceptibility Allele for HNPCC-Related Colorectal Cancer
  60. Deciphering the genetics of hereditary non-syndromic colorectal cancer
  61. Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas
  62. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome
  63. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
  64. Desmoid Tumors in a Dutch Cohort of Patients With Familial Adenomatous Polyposis
  65. Guidelines for the clinical management of familial adenomatous polyposis (FAP)
  66. Somatic APC mosaicism: an underestimated cause of polyposis coli
  67. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
  68. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
  69. The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family
  70. Diagnostic Approach and Management of Lynch Syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): A Guide for Clinicians
  71. Heterozygous Mutations in PMS2 Cause Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome)
  72. Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures
  73. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)
  74. Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC
  75. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC
  76. Identification of HNPCC by Molecular Analysis of Colorectal and Endometrial Tumors
  77. Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomic Deletion of the MSH2 Gene
  78. The CHEK2 1100delC Mutation Identifies Families with a Hereditary Breast and Colorectal Cancer Phenotype
  79. Immunohistochemical expression (IHC) and microsatellite instability (MSI) analysis in families with clustering of colorectal cancer
  80. Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum
  81. Multiple Primary Cancer, Including Transitional Cell Carcinoma of the Upper Uroepithelial Tract in a Multigeneration Hnpcc Family: Molecular Genetic, Diagnostic, and Management Implications
  82. Conventional and Tissue Microarray Immunohistochemical Expression Analysis of Mismatch Repair in Hereditary Colorectal Tumors
  83. A 10-Mb paracentric inversion of chromosome arm 2p inactivatesMSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred
  84. Long-term follow-up of recipients of allogeneic bone marrow grafts reveals no progressive telomere shortening and provides no evidence for haematopoietic stem cell exhaustion
  85. Long-term follow-up of recipients of allogeneic bone marrow grafts reveals no progressive telomere shortening and provides no evidence for haematopoietic stem cell exhaustion
  86. Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study
  87. Bias in detection of instability of the (C)8 mononucleotide repeat of MSH6 in tumours from HNPCC patients
  88. An update of cancer risk in HNPCC: A study of 101 families including 58 families associated with mismatch repair mutations
  89. Colonoscopic screening of carriers of mismatch repair gene mutations: Results from the dutch HNPCC registry
  90. Microsatellite instability (MSI) and immunohistochemical analysis of endometrial cancers as a tool to identify family members at risk for hereditary nonpolyposis colorectal cancer (HNPCC)
  91. Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach
  92. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients
  93. Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer
  94. Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked toBRCA1, fails to support a role forBRCA1 in colorectal tumorigenesis
  95. Gene-environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing
  96. Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
  97. Suspected hereditary nonpolyposis colorectal cancer
  98. Clinical implications of genetic testing of hereditary nonpolyposis colorectal cancer
  99. Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer
  100. Familial and Hereditary Non-polyposis Colorectal Cancer: Issues Relevant for Surgical Practice
  101. Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations
  102. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis
  103. Molecular analysis of theAPC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis
  104. Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene
  105. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
  106. Linkage studies on hereditary nonpolyposis colorectal cancer in the Netherlands
  107. Endometrial Cancer in Four Sisters: Report of a Kindred with Presumed Cancer Family Syndrome
  108. DGGE polymorphism in intron 10 of MSH2, the HNPCC gene
  109. Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies
  110. Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis
  111. Dr. McDermott and Associates Reply
  112. Detection of mixed chimaerism in flow-sorted cell subpopulations by PCR-amplified VNTR markers after allogeneic bone marrow transplantation
  113. A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli: implications for presymptomatic diagnosis
  114. CA repeat polymorphism from YAC JW25 at the D5S318 locus, distal to adenomatous polyposis coli (APC)
  115. Human αB-crystallin (CRYA2) gene mapped to chromosome 11q12-q23
  116. Assignment of the human gene for histidine-rich glycoprotein to chromosome 3
  117. Solid-phase adsorption of antigens for efficient production of antibodies reactive with native and fixed tissue antigens
  118. Linkage Studies on Familial Adenomatous Polyposis in the Netherlands
  119. Vector-Alu PCR: a rapid step in mapping cosmids and YACs
  120. Distribution of adenosine deaminase complexing protein (ADCP) in human tissues.
  121. PRESYMPTOMATIC DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS BY BRIDGING DNA MARKERS
  122. Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in dutch families
  123. Structure of the bovine eye lens γs-crystallin gene (formerly βs)
  124. Prevalence and molecular heterogeneity of alfa+thalassemia in two tribal populations from Andhra Pradesh, India
  125. Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22
  126. Human ?-globin maps to pter-p13.3 in chromosome 16 distal to PGP
  127. G6PD Punjab, a dialysis sensitive variant of human glucose-6-phosphate dehydrogenase
  128. Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene
  129. Assignment of the human tissue-type plasminogen activator gene (PLAT) to chromosome 8
  130. G6PD VARIATION IN INDIA11The study was performed within the frame work of the project 5.A.12 (“Genetics of Human Enzymes”) of the Medical Faculty at the State University of Leiden and supported by grants from WHO, IBP (the Dutch Branch) and FUNGO which...
  131. Adenosine Deaminase Complexing Protein in Transformed Cells and Colon Cancera
  132. Immunohistochemical localization of adenosine deaminase complexing protein in intestinal mucosa and in colorectal adenocarcinoma as a marker for tumour cell heterogeneity
  133. Maturation Dependent Changes in Nucleoside Phosphorylase (NP), Adenosine Deaminase (ADA) and Ada Complexing Protein (ADCP) in Intestinal Epithelial Cells
  134. Adenosine Deaminase (ADA; E.C. no. 3.5.4.4.) in Colorectal Adenocarcinoma in Man
  135. Adenosine Deaminase Complexing Protein: A Transformation Sensitive Marker and Possible Tool in Immunodiagnosis of Solid Tumors
  136. Electrophoretic characterization and genetics of human biliverdin reductase (BLVR; EC 1.3.1.24); assignment of BLVR to the p14 → cen region of human chromosome 7 in mouse-human somatic cell hybrids
  137. Electrophoretic characterization and genetics of human biliverdin reductase (BLVR; EC 1.3.1.24); assignment of BLVR to the p14 → cen region of human chromosome 7 in mouse-human somatic cell hybrids
  138. Glutathione S-Transferase Activity in Human Fetal and Adult Tissues