A Lindblom

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. ncbi request reprint Hereditary cancer
    A Lindblom
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Acta Oncol 38:439-47. 1999
  2. ncbi request reprint A germline E-cadherin mutation in a family with gastric and colon cancer
    S Salahshor
    Department of Molecular Medicine, Karolinska Institute, S 171 76 Stockholm, Sweden
    Int J Mol Med 8:439-43. 2001
  3. ncbi request reprint CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk
    Haixin Lei
    Karolinska Institute, Department of Biosciences at Novum, Huddinge, Sweden
    Int J Cancer 98:199-204. 2002
  4. ncbi request reprint Colorectal cancer as a complex disease: defining at-risk subjects in the general population - a preventive strategy
    Annika Lindblom
    Karolinska Institute, Department of Molecular Medicine, CMM L8 02, S171 76 Stockholm, Sweden
    Expert Rev Anticancer Ther 4:377-85. 2004
  5. ncbi request reprint BRCA1 mutations in a population-based study of breast cancer in Stockholm County
    Sara Margolin
    Department of Oncology, Huddinge University Hospital, Sodersjukhuset, S 118 83 Stockholm, Sweden
    Genet Test 8:127-32. 2004
  6. pmc A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer
    Xiao Lei Zhou
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Breast Cancer Res 6:R187-90. 2004
  7. pmc Low frequency of E-cadherin alterations in familial breast cancer
    S Salahshor
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Breast Cancer Res 3:199-207. 2001
  8. ncbi request reprint Different mechanisms in the tumorigenesis of proximal and distal colon cancers
    A Lindblom
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Curr Opin Oncol 13:63-9. 2001
  9. ncbi request reprint Missense mutations in hMLH1 associated with colorectal cancer
    T Liu
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Hum Genet 105:437-41. 1999
  10. ncbi request reprint Individuals with an increased risk of colorectal cancer: perceived benefits and psychological aspects of surveillance by means of regular colonoscopies
    A Liljegren
    Department of Clinical Oncology, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden
    J Clin Oncol 22:1736-42. 2004

Collaborators

Detail Information

Publications75

  1. ncbi request reprint Hereditary cancer
    A Lindblom
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Acta Oncol 38:439-47. 1999
    ..The organization of clinics for cancer families in Sweden and the clinical implications of surveillance programs and gene testing for cancer predisposition are discussed...
  2. ncbi request reprint A germline E-cadherin mutation in a family with gastric and colon cancer
    S Salahshor
    Department of Molecular Medicine, Karolinska Institute, S 171 76 Stockholm, Sweden
    Int J Mol Med 8:439-43. 2001
    ....
  3. ncbi request reprint CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk
    Haixin Lei
    Karolinska Institute, Department of Biosciences at Novum, Huddinge, Sweden
    Int J Cancer 98:199-204. 2002
    ..These results do not support CDH1 as a prominent low-penetrance cancer susceptibility gene, but indicate that CDH1 mutations contribute to the progression of both lobular and ductal tumors...
  4. ncbi request reprint Colorectal cancer as a complex disease: defining at-risk subjects in the general population - a preventive strategy
    Annika Lindblom
    Karolinska Institute, Department of Molecular Medicine, CMM L8 02, S171 76 Stockholm, Sweden
    Expert Rev Anticancer Ther 4:377-85. 2004
    ..This knowledge can be used to define a subpopulation at increased risk for colorectal cancer. It will be more feasible to design preventive strategies for this subgroup than for a whole population...
  5. ncbi request reprint BRCA1 mutations in a population-based study of breast cancer in Stockholm County
    Sara Margolin
    Department of Oncology, Huddinge University Hospital, Sodersjukhuset, S 118 83 Stockholm, Sweden
    Genet Test 8:127-32. 2004
    ..Our BRCA1 prevalence is the lowest of all studies on unselected breast cancer patients, probably reflecting the comparatively low rates detected also in high-risk breast cancer families from the region...
  6. pmc A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer
    Xiao Lei Zhou
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Breast Cancer Res 6:R187-90. 2004
    ..We investigated 153 patients with familial non-BRCA1/BRCA2 breast cancer for germline mutations in the CTCF gene...
  7. pmc Low frequency of E-cadherin alterations in familial breast cancer
    S Salahshor
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Breast Cancer Res 3:199-207. 2001
    ....
  8. ncbi request reprint Different mechanisms in the tumorigenesis of proximal and distal colon cancers
    A Lindblom
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Curr Opin Oncol 13:63-9. 2001
    ..This article reviews the principal differences between CIN and MIN tumors, evidence for a proximal and distal route in carcinogenesis, gender differences, and aspects of methylation in CIN and MIN colorectal tumorigenesis...
  9. ncbi request reprint Missense mutations in hMLH1 associated with colorectal cancer
    T Liu
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Hum Genet 105:437-41. 1999
    ..Second, the lack of MSI in these cases suggests that the mechanism involved in carcinogenesis could be different from that generally hypothesized...
  10. ncbi request reprint Individuals with an increased risk of colorectal cancer: perceived benefits and psychological aspects of surveillance by means of regular colonoscopies
    A Liljegren
    Department of Clinical Oncology, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden
    J Clin Oncol 22:1736-42. 2004
    ..To evaluate the psychological consequences of genetic counseling followed by a surveillance program using colonoscopy among individuals with increased risk of colorectal cancer...
  11. ncbi request reprint Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer
    S Salahshor
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Lab Invest 81:535-41. 2001
    ..Our results suggest that immunohistochemistry cannot replace testing for MSI to predict HNPCC carrier status or identify MSI-positive sporadic colorectal cancer...
  12. ncbi request reprint First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm
    B Arver
    Department of Molecular Medicin, Karolinska Institutet, Stockholm, Sweden
    Genet Test 5:1-8. 2001
    ..Decreasing age of onset with successive generations was common and must be taken into account when surveillance options are considered...
  13. pmc Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps
    A Liljegren
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Gut 52:1140-7. 2003
    ..The relationship between hyperplastic polyps and adenomas, and the prevalence and incidence of these lesions were evaluated in individuals predisposed to familial colorectal cancer...
  14. ncbi request reprint Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2
    H Fischer
    Department of Molecular Medicine, Karolinska Institute, S 171 76 Stockholm, Sweden
    Carcinogenesis 22:875-8. 2001
    ..Our results suggest that stromal expression of COL11A1 and COL5A2 is associated with malignancy in colorectal cancer...
  15. pmc COL11A1 in FAP polyps and in sporadic colorectal tumors
    H Fischer
    Department Molecular Medicine, Karolinska Institute, S 171 76 Stockholm, Sweden
    BMC Cancer 1:17. 2001
    ..Most colorectal carcinomas are suggested to be a result of an activated Wnt- pathway, most often involving an inactivation of the APC gene or activation of beta-catenin...
  16. pmc TGFBR1(*)6A and Int7G24A variants of transforming growth factor-beta receptor 1 in Swedish familial and sporadic breast cancer
    B Song
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 76, Sweden
    Br J Cancer 97:1175-9. 2007
    ..The Int7G24A variant was not associated with breast cancer risk or clinical presentation of the disease including prognosis in our material...
  17. ncbi request reprint Histological changes pertinent to local tumor progression in hereditary nonpolyposis colorectal cancer (HNPCC). A preliminary report
    C A Rubio
    Department of Pathology, Karolinska Institute and Hospital, Stockholm, Sweden
    Anticancer Res 24:1765-8. 2004
    ....
  18. pmc Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families
    M Zelada Hedman
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Br J Cancer 75:1201-4. 1997
    ..No germline mutations were found in any of the patients. We also studied TP53 mutations in tumour DNA from 51 of the same individuals and found mutations in 14%. This is similar to what has been reported in sporadic breast cancer...
  19. pmc TGFBR1 variants TGFBR1(*)6A and Int7G24A are not associated with an increased familial colorectal cancer risk
    J Skoglund Lundin
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Br J Cancer 100:1674-9. 2009
    ..We cannot, however, exclude the possibility that TGFBR1 variants have a modifying effect on inherited risk per se...
  20. ncbi request reprint The role of hPMS1 and hPMS2 in predisposing to colorectal cancer
    T Liu
    Department of Molecular Medicine, Karolinska Institute, S-17176 Stockholm, Sweden
    Cancer Res 61:7798-802. 2001
    ..Until there is better evidence for an increased colorectal cancer risk associated with germline mutations in these genes, a conservative interpretation of the role of mutations in these genes is advised...
  21. pmc A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer
    T Djureinovic
    Department of Molecular Medicine and Surgery, CMM L8 02, Karolinska Hospital, S 171 76 Stockholm, Sweden
    Gut 55:362-6. 2006
    ..In an attempt to identify loci harbouring novel predisposing genes, we have performed a genome wide linkage analysis in 18 colorectal cancer families recruited from the Department of Clinical Genetics at Karolinska Hospital, Sweden...
  22. ncbi request reprint DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer
    T Liu
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Clin Genet 53:131-5. 1998
    ....
  23. ncbi request reprint Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer
    X L Zhou
    Department of Molecular Medicine, Karolinska Institutet, S 171 76 Stockholm, Sweden
    Genet Test 9:147-51. 2005
    ..In addition, we found that previously unknown sequence variations at the position of amino acid 423 (R423Q, R423P, and R423R) appear to occur more frequently in cases than in controls (p = 0.02), a finding that warrants future studies...
  24. pmc Microsatellite instability in sporadic colorectal cancer is not an independent prognostic factor
    S Salahshor
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Br J Cancer 81:190-3. 1999
    ..Survival analysis at 5-10 years follow-up showed no statistically significant difference in prognosis between MSI-positive and -negative tumours. Our results suggest that the MSI phenotype as such is not an independent prognostic factor...
  25. ncbi request reprint ATM mutations in cancer families
    I Vorechovsky
    Karolinska Institute, Department of Bioscience NOVUM, Huddinge, Sweden
    Cancer Res 56:4130-3. 1996
    ..Although the proportion of A-T carriers in this sample seems to be higher than expected by chance, larger studies and pooled data sets will be required to establish that an A-T allele confers cancer susceptibility in heterozygotes...
  26. pmc Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer
    G Lindgren
    Department of Clinical Genetics, Karolinska Hospital, S 171 76 Stockholm, Sweden
    Gut 50:228-34. 2002
    ..To compile the medical findings and experience generated during this period, a retrospective cross sectional study was performed...
  27. ncbi request reprint Classification of colorectal polyps: guidelines for the endoscopist
    C A Rubio
    Gastrointestinal and Liver Pathology Research Laboratory, Department of Pathology, Karolinska Institute and Hospital, Stockholm, Sweden
    Endoscopy 34:226-36. 2002
  28. doi request reprint Quantification of adenovirus DNA in unrelated donor hematopoietic stem cell transplant recipients
    I Gustafson
    Department of Medicine, Infectious Disease Unit, B2 00, Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital, Solna, S 171 76 Stockholm, Sweden
    J Clin Virol 43:79-85. 2008
    ..Adenovirus (AdV) infection is a life threatening condition in immunosuppressed patients. Quantitative AdV assays can improve the clinical management of these patients...
  29. pmc Association studies on 11 published colorectal cancer risk loci
    S von Holst
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm S17176, Sweden
    Br J Cancer 103:575-80. 2010
    ..21 (rs6983267), 9p24 (rs719725), 10p14 (rs10795668), 11q23.1 (rs3802842), 14q22.2 (rs4444235), 15q13.3 (rs4779584), 16q22.1 (rs9929218), 18q21.1 (rs4939827), 19q13.1 (rs10411210) and 20p12.3 (rs961253), in a Swedish-based cohort...
  30. ncbi request reprint Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters
    C M Phelan
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Cancer Res 58:1004-12. 1998
    ..These data strongly suggest that loci on chromosome 17 may determine aspects of tumor presentation and disease behavior in human breast cancer and pinpoint candidate tumor suppressor gene loci...
  31. pmc Differential expression of aquaporin 8 in human colonic epithelial cells and colorectal tumors
    H Fischer
    Dept Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    BMC Physiol 1:1. 2001
    ..In order to identify differentially expressed genes in colorectal tumors and normal colorectal epithelium, a differential display experiment was used to compare RNA expression in normal and tumor tissue samples...
  32. doi request reprint Evaluation of a surveillance strategy for early detection of adenovirus by PCR of peripheral blood in hematopoietic SCT recipients: incidence and outcome
    L Ohrmalm
    Department of Medicine, Solna, Infectious Disease Unit, Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
    Bone Marrow Transplant 46:267-72. 2011
    ..Although AdV DNA was found in peripheral blood by quantitative PCR in 5% of patients undergoing allogeneic HSCT, the present surveillance program did not have a significant effect on the clinical outcome...
  33. ncbi request reprint Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer
    A Lindblom
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Nat Genet 5:279-82. 1993
    ..We now present tight linkage between a polymorphic marker on the short arm of chromosome 3 and the disease locus, and find that these families also manifest signs of a general DNA replication disorder...
  34. ncbi request reprint Virtual reality colonoscopy simulation: a compulsory practice for the future colonoscopist?
    G Ahlberg
    Department of Surgery, and Center for Advanced Medical Simulation, Karolinska Hospital, Stockholm, Sweden
    Endoscopy 37:1198-204. 2005
    ..The aim of this study was to investigate whether the use of the AccuTouch flexible endoscopy simulator improves the early part of the learning curve in colonoscopy training...
  35. pmc Cytokine responses in acute and persistent human parvovirus B19 infection
    A Isa
    Department of Medicine, Infectious Disease Unit, Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital, Solna, Sweden
    Clin Exp Immunol 147:419-25. 2007
    ....
  36. ncbi request reprint Validity of routine surveillance data: a case study on Swedish notifications of methicillin-resistant Staphylococcus aureus
    M Stenhem
    Department of Epidemiology, Swedish Institute for Infectious Disease Control, Karolinska Institutet, Solna, Sweden
    Euro Surveill 14:19281. 2009
    ..This should be taken into account when interpreting routine surveillance figures. Whether or not the case definition includes cases of MRSA colonisation may have a significant impact on population-wide estimates of MRSA occurrence...
  37. ncbi request reprint Lack of an association between the TGFBR1*6A variant and colorectal cancer risk
    Johanna Skoglund
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Clin Cancer Res 13:3748-52. 2007
    ..To further evaluate the relationship between TGFBR1*6A and colorectal cancer risk, we have conducted a large case-control study and a meta-analysis of previously published studies...
  38. ncbi request reprint The role of hMLH3 in familial colorectal cancer
    Hong Xu Liu
    Department of Thoracic Surgery, First Affiliated Hospital, China Medical University, Shenyang 110001, People s Republic of China
    Cancer Res 63:1894-9. 2003
    ..None of the tumors with hMLH3 mutations showed microsatellite instability, which demonstrates that hMLH3 does not make its contribution to carcinogenesis through an impaired DNA mismatch repair function...
  39. ncbi request reprint Family history of colorectal cancer in a Sweden county
    Louise Olsson
    Department of Surgery, Central Hospital, Vasteras, Uppsala University, Sweden
    Fam Cancer 2:87-93. 2003
    ..We conclude that the low frequency of individuals identified by family history alone makes the establishment of surveillance programs feasible...
  40. ncbi request reprint MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance
    Annelie Liljegren
    Department of Molecular Medicine, Karolinska Institutet, S171 76 Stockholm, Sweden
    Dis Markers 20:259-67. 2004
  41. ncbi request reprint A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer
    Agneta Jansson
    Department of Biomedicine and Surgery, Linkoping University, 581 85, Linkoping, Sweden
    Breast Cancer Res Treat 106:57-64. 2007
    ..We suggest that the detected polymorphism does not contribute to a higher risk of developing breast cancer...
  42. doi request reprint Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study
    Yvonne Brandberg
    Department of Oncology Pathology, Karolinska Institutet, Radiumhemmet, Karolinska University Hospital, S 171 76, Stockholm, Sweden
    J Clin Oncol 26:3943-9. 2008
    ....
  43. pmc Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2
    Annelie Liljegren
    The Oncology Unit of Radiumhemmet at Karolinska University Hospital, Stockholm, Sweden
    J Clin Oncol 26:3434-9. 2008
    ..These prevalences have been estimated previously in smaller studies, and the results have been found to be variable...
  44. ncbi request reprint Recommendations of the 2006 Human Variome Project meeting
    Richard G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia
    Nat Genet 39:433-6. 2007
    ..Here we summarize the background of the project, the meeting and its recommendations...
  45. ncbi request reprint Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon N Stacey
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:865-9. 2007
    ..rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone...
  46. pmc Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q
    Simone Picelli
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    BMC Cancer 8:87. 2008
    ..In an attempt to identify novel colorectal cancer predisposing genes, we have performed a genome-wide linkage analysis in 30 Swedish non-FAP/non-HNPCC families with a strong family history of colorectal cancer...
  47. ncbi request reprint Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
    Kristina Lagerstedt Robinson
    Department of Clinical Genetics, Karolinska University Hospital, S 17176 Stockholm, Sweden
    J Natl Cancer Inst 99:291-9. 2007
    ..The syndrome is explained by germline mutations in DNA mismatch repair (MMR) genes, and there is a need for diagnostic tools to preselect patients for genetic testing to diagnose those with HNPCC...
  48. pmc CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer
    Sara Margolin
    Department of Oncology, Karolinska University Hospital at Södersjukhuset, Stockholm, Sweden
    BMC Cancer 7:163. 2007
    ..A truncating variant, 1100delC, in check point-kinase CHEK2, has been identified as a risk factor for familial and sporadic breast cancer. The prevalence in healthy non-breast cancer cases is low and varies between populations...
  49. pmc The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Leigha Senter
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
    Gastroenterology 135:419-28. 2008
    ..Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers...
  50. ncbi request reprint Polymorphism in the promoter region of the NFKB1 gene increases the risk of sporadic colorectal cancer in Swedish but not in Chinese populations
    Andreas Lewander
    Department of Oncology, Institute of Biomedicine and Surgery, University of Linkoping, Linkoping, Sweden
    Scand J Gastroenterol 42:1332-8. 2007
    ..The purpose of this study was to investigate whether this polymorphism is related to colorectal cancer risk and clinicopathological variables...
  51. doi request reprint A genome-wide scan suggests a susceptibility locus on 5p 13 for nasopharyngeal carcinoma
    Li Fu Hu
    Department of Microbiology, Tumor and Cell Biology MTC, Karolinska Institutet, Stockholm, Sweden
    Eur J Hum Genet 16:343-9. 2008
    ..1. In further haplotype analysis, affected individuals in six families shared three marker haplotypes between D5S674 and D5S418. In conclusion, a region on 5p13 may harbor a susceptibility gene for NPC...
  52. doi request reprint ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:886-91. 2008
    ..14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation...
  53. doi request reprint Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon N Stacey
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:703-6. 2008
    ..The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer...
  54. ncbi request reprint The CHEK2 1100delC variant in Swedish colorectal cancer
    Tatjana Djureinovic
    Department of Molecular Medicine and Surgery, Stockholm, Sweden
    Anticancer Res 26:4885-8. 2006
    ..The cell cycle checkpoint kinase 2 (CHEK2) 1100delC variant has recently been identified at high frequency in families with both breast and colorectal cancer, suggesting the possible role of this variant in colorectal cancer predisposition...
  55. ncbi request reprint Somatic BRAF-V600E mutations in familial colorectal cancer
    Jana Vandrovcova
    Department of Molecular Medicine and Surgery, Karolinska Hospital, S 17176 Stockholm, Sweden
    Cancer Epidemiol Biomarkers Prev 15:2270-3. 2006
    ..In conclusion, our results suggest that BRAF-V600E mutations are mainly involved in colorectal cancer families characterized by an increased risk of other common malignancies...
  56. ncbi request reprint Familial breast cancer, underlying genes, and clinical implications: a review
    Sara Margolin
    Department of Oncology, Karolinska University Hospital, Stockholm, Sweden
    Crit Rev Oncog 12:75-113. 2006
    ..We will also describe the clinical implications of BRCA1 and 2. Finally, we will give a review of the field but also focus on our own research, molecular and clinical...
  57. pmc Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    Asad Umar
    Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J Natl Cancer Inst 96:261-8. 2004
    ....
  58. ncbi request reprint Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?
    Britta Halvarsson
    Department of Pathology, The Jubileum Institution, Lund University Hospital, 221 85, Lund, Sweden
    Virchows Arch 444:135-41. 2004
    ....
  59. ncbi request reprint The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours
    Astrid T Stormorken
    Section of Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway
    Fam Cancer 2:9-13. 2003
    ..We demonstrated that the mutation was linked to disease with lod score 5.7 in the family, and all examined, but one manifest cancer, lacked the MSH2 protein...
  60. ncbi request reprint Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer
    Elise Renkonen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    J Clin Oncol 21:3629-37. 2003
    ..Our purpose was to address the genetic etiology of such families. Materials and..
  61. ncbi request reprint Lack of HIN-1 methylation in BRCA1-linked and "BRCA1-like" breast tumors
    Ian Krop
    Department of Medical Oncology, Dana Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts 02115, USA
    Cancer Res 63:2024-7. 2003
    ..006), suggesting that HIN-1 methylation patterns are associated with specific breast cancer subtypes...
  62. ncbi request reprint A naturally occurring mutation in an ATP-binding domain of the recombination repair gene XRCC3 ablates its function without causing cancer susceptibility
    Saeed Rafii
    Institute for Cancer Studies, Division of Genomic Medicine, University of Sheffield Medical School, Beech Hill Road, Sheffield, S10 2RX, UK
    Hum Mol Genet 12:915-23. 2003
    ..Thus we have no evidence that D213N increases the risk of cancer. We propose that not all components of the homologous recombination repair complex can act as cancer susceptibility genes...
  63. ncbi request reprint [Essential to discover hereditary colorectal and endometrial cancer. Mutations in "HNPCC individuals" can cause several different tumors]
    Mef Nilbert
    Onkologiska kliniken, Universitetssjukhuset i Lund
    Lakartidningen 99:3296-300. 2002
    ..Screening programs for HNPCC have been shown to be cost-effective and to prevent cancer. Identification of HNPCC individuals thus allows prevention of additional tumors in the patient as well as in the family...
  64. ncbi request reprint Re: Dominant negative ATM mutations in breast cancer families
    Haixin Lei
    J Natl Cancer Inst 94:951-2; author reply 952. 2002
  65. ncbi request reprint A region close to Tp53 shows LOH in familial breast cancer
    Liping Luo
    Department of Molecular Medicine, Karolinska Institute, 17176 Stockholm, Sweden
    Int J Mol Med 9:405-9. 2002
    ....
  66. ncbi request reprint Definition of candidate low risk APC alleles in a Swedish population
    Xiao Lei Zhou
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Int J Cancer 110:550-7. 2004
    ..8; 95% CI, 0.96-3.40). The question of whether all the other variants confer an increased colorectal cancer risk warrants future large association studies...
  67. ncbi request reprint Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up
    Brita Arver
    Department of Molecular Medicine, Clinical Genetic Unit, Karolinska University Hospital, Stockholm, Sweden
    Fam Cancer 3:109-16. 2004
    ..Healthy self-referred women going through predictive breast/ovarian or colon cancer gene testing, including extensive pre- and post-test information and support, in general, will not experience adverse psychological consequences...
  68. ncbi request reprint The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: a case-control study
    Johanna Skoglund
    Department of Molecular Medicine and Surgery, Karolinska Institute, S 171 76 Stockholm, Sweden
    Anticancer Res 26:3077-81. 2006
    ..The C975G variant is the most extensively studied and has been suggested to be a risk factor...
  69. ncbi request reprint Family history, and impact on clinical presentation and prognosis, in a population-based breast cancer cohort from the Stockholm County
    Sara Margolin
    Department of Oncology, Karolinska University Hospital at Södersjukhuset, S 118 83, Stockholm, Sweden
    Fam Cancer 5:309-21. 2006
    ....
  70. ncbi request reprint Long-range PCR facilitates the identification of PMS2-specific mutations
    Mark Clendenning
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    Hum Mutat 27:490-5. 2006
    ..705+1G>T, c.736_741del6ins11, c.862_863del, c.1688G>T, and c.2007-1G>A. We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome-like patients is both feasible and desirable...
  71. ncbi request reprint Estrogen receptor beta (ESR2) polymorphisms in familial and sporadic breast cancer
    Paula Maguire
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Breast Cancer Res Treat 94:145-52. 2005
    ..0, p = 0.03). Further analysis is needed to elucidate the role of estrogen receptor beta in breast cancer susceptibility...
  72. ncbi request reprint The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences
    Françoise Charbonnier
    Inserm U614 IFRMP, Faculty of Medicine, Rouen, France
    Hum Mutat 26:255-61. 2005
    ..In conclusion, this study demonstrates the heterogeneity of the breakpoints within the MSH2 upstream region and reveals the remarkable density of recombinogenic Alu sequences in this region...
  73. ncbi request reprint The BRCA1 exon 13 duplication in the Swedish population
    Barbara Kremeyer
    Department of Molecular Medicine, Center for Molecular Medicine L8 02, Karolinska Institutet, Karolinska sjukhuset, 171 76 Stockholm, Sweden
    Fam Cancer 4:191-4. 2005
  74. ncbi request reprint CGH analysis of familial non-BRCA1/BRCA2 breast tumors and mutation screening of a candidate locus on chromosome 17q11.2-12
    Paula Maguire
    Department of Molecular Medicine, Karolinska Institute, Stockholm 171 76, Sweden
    Int J Mol Med 16:135-41. 2005
    ..No predisposing mutations were identified in the 10 genes investigated in this study, however further analysis of chromosome 17 is warranted...
  75. ncbi request reprint Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer
    Britta Halvarsson
    Department of Pathology, Lund University Hospital, Lund, Sweden
    Mod Pathol 18:1095-101. 2005
    ..However, the analysis has a greater chance of being informative if large and proximally located adenomas are selected...