hereditary neoplastic syndromes

Summary

Summary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.

Top Publications

  1. ncbi Contributions of ATM mutations to familial breast and ovarian cancer
    Yvonne R Thorstenson
    Stanford Genome Technology Center, Palo Alto, California 94304 1103, USA
    Cancer Res 63:3325-33. 2003
  2. doi Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression
    Carla Oliveira
    Institute of Molecular Pathology and Immunology, University of Porto IPATIMUP, Porto, Portugal
    Gastroenterology 136:2137-48. 2009
  3. pmc Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
    Sharon E Plon
    Department of Pediatrics, Baylor Cancer Genetics Clinic, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 29:1282-91. 2008
  4. ncbi Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    S Niemann
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Nat Genet 26:268-70. 2000
  5. ncbi Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome
    Christian P Pavlovich
    Urologic Oncology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
    J Urol 173:1482-6. 2005
  6. ncbi The genetic basis of cancer of the kidney
    W Marston Linehan
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    J Urol 170:2163-72. 2003
  7. ncbi Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancer
    Daniel C Chung
    Gastroenterology Unit, Massachusetts General Hospital, USA
    N Engl J Med 357:283-91. 2007
  8. ncbi Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer
    F Carneiro
    Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Porto, Portugal
    J Clin Pathol 61:25-30. 2008
  9. ncbi Lessons from the skin--cutaneous features of familial cancer
    Ingrid M Winship
    Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Vic, Australia
    Lancet Oncol 9:462-72. 2008
  10. ncbi Hereditary diffuse gastric cancer: diagnosis and management
    Vanessa Blair
    Department of Surgery, University of Auckland, Auckland, New Zealand
    Clin Gastroenterol Hepatol 4:262-75. 2006

Detail Information

Publications187 found, 100 shown here

  1. ncbi Contributions of ATM mutations to familial breast and ovarian cancer
    Yvonne R Thorstenson
    Stanford Genome Technology Center, Palo Alto, California 94304 1103, USA
    Cancer Res 63:3325-33. 2003
    ..This study indicates that there is a significant prevalence of ATM mutations in breast and ovarian cancer families and adds to a growing body of evidence that ATM mutations confer increased susceptibility to breast cancer...
  2. doi Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression
    Carla Oliveira
    Institute of Molecular Pathology and Immunology, University of Porto IPATIMUP, Porto, Portugal
    Gastroenterology 136:2137-48. 2009
    ..We quantified the different 2nd hits in CDH1 occurring in neoplastic lesions from HDGC patients...
  3. pmc Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
    Sharon E Plon
    Department of Pediatrics, Baylor Cancer Genetics Clinic, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 29:1282-91. 2008
    ..The international adoption of a standardized reporting system should improve the clinical utility of sequence-based genetic tests to predict cancer risk...
  4. ncbi Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    S Niemann
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Nat Genet 26:268-70. 2000
    ..Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance...
  5. ncbi Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome
    Christian P Pavlovich
    Urologic Oncology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
    J Urol 173:1482-6. 2005
    ..Herein we describe the evaluation and management of renal tumors in Birt-Hogg-Dubé (BHD), an autosomal dominant disorder predisposing to cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal tumors...
  6. ncbi The genetic basis of cancer of the kidney
    W Marston Linehan
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    J Urol 170:2163-72. 2003
    ..We identified the genetic basis of these different types of kidney cancer to provide better methods for early diagnosis of this disease as well as provide the foundation for the development of molecular therapeutic approaches...
  7. ncbi Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancer
    Daniel C Chung
    Gastroenterology Unit, Massachusetts General Hospital, USA
    N Engl J Med 357:283-91. 2007
  8. ncbi Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer
    F Carneiro
    Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Porto, Portugal
    J Clin Pathol 61:25-30. 2008
    ..In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management...
  9. ncbi Lessons from the skin--cutaneous features of familial cancer
    Ingrid M Winship
    Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Vic, Australia
    Lancet Oncol 9:462-72. 2008
    ....
  10. ncbi Hereditary diffuse gastric cancer: diagnosis and management
    Vanessa Blair
    Department of Surgery, University of Auckland, Auckland, New Zealand
    Clin Gastroenterol Hepatol 4:262-75. 2006
    ....
  11. ncbi Birt-Hogg-Dubé syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient
    Christof Lamberti
    Acta Derm Venereol 85:172-3. 2005
  12. ncbi Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients
    Maurice A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    J Invest Dermatol 127:588-93. 2007
    ..Renal microscopic oncocytosis in BHD is considered as a precursor to malignant kidney tumors and may likewise be the result of haplo-insufficiency, with somatic second-hit mutations or LOH giving rise to malignancy later in life...
  13. ncbi A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome
    D Bessis
    Service de Dermatologie, Hopital Saint Eloi, Montpellier, France
    Br J Dermatol 155:1067-9. 2006
  14. ncbi E-cadherin mutations and hereditary gastric cancer: prevention by resection?
    R C Fitzgerald
    Hutchison MRC Research Centre, Cambridge, UK
    Dig Dis 20:23-31. 2002
    ..There are many issues to be considered in order to determine whether prophylactic gastrectomy is the optimal management strategy for these patients...
  15. pmc Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax
    Yoko Gunji
    J Med Genet 44:588-93. 2007
    ..2, has recently been shown to be defective. Recent genetic studies revealed that clinical pictures of the disease may be variable and may not always present the full expression of the phenotypes...
  16. ncbi Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome
    H Kawasaki
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 152:142-5. 2005
    ..The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients...
  17. pmc Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer
    M Pithukpakorn
    J Med Genet 43:755-62. 2006
    ..Hereditary leiomyomatosis and renal cell cancer (HLRCC) is the autosomal dominant heritable syndrome with predisposition to development of renal cell carcinoma and smooth muscle tumours of the skin and uterus...
  18. ncbi Prophylactic gastrectomy for hereditary diffuse gastric cancer syndrome
    Erika A Newman
    Section of Gastrointestinal Surgery, Department of Surgery, The University of Michigan Medical Center, Ann Arbor, MI 48108, USA
    J Am Coll Surg 202:612-7. 2006
    ..We report the outcomes of patients with the CDH1 mutation who have undergone prophylactic gastrectomy in the year 2003 to 2004...
  19. ncbi Genetics, pathology, and clinics of familial gastric cancer
    Carla Oliveira
    Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Porto, Portugal
    Int J Surg Pathol 14:21-33. 2006
    ....
  20. pmc Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer
    N Fernandes da Silva
    Cancer Research UK Renal Molecular Oncology Research Group, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
    J Med Genet 40:820-4. 2003
    ..These findings suggest that BHD inactivation occurs in a subset of clear cell RCC and CRC...
  21. pmc Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy?
    D Shaw
    Tauranga Hospital, Private Bag 12 024, Tauranga, New Zealand
    Gut 54:461-8. 2005
    ..The results of annual chromoendoscopic surveillance using the methylene blue/congo red technique in 33 mutation carriers over a five year period are described...
  22. ncbi Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome
    Patrick Pollard
    Molecular and Population Genetics Laboratory, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
    J Pathol 205:41-9. 2005
    ....
  23. ncbi Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers
    T H Thai
    Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA
    Hum Mol Genet 7:195-202. 1998
    ..These findings suggest an occasional role for BARD1 mutations in the development of sporadic and hereditary tumors...
  24. ncbi Genetic Epidemiology--science and ethics on familial cancers
    K Hemminki
    Department of Biosciences, Karolinska Institute, Huddinge, Sweden
    Acta Oncol 40:439-44. 2001
    ..The results have implications for design of genetic studies and for clinical counselling...
  25. ncbi Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges
    Denise Avard
    Centre de recherche en droit public, Faculty of Law, University of Montreal, Montreal, Canada
    Fam Cancer 5:3-13. 2006
    ..The lessons learned by the INHERIT research team and future challenges are presented...
  26. ncbi Familial pancreatic carcinoma in Jews
    Henry T Lynch
    Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68131, USA
    Fam Cancer 3:233-40. 2004
    ..Attention should also be given to the search for mutations predisposing to PC in Jews so that opportunities to learn more about the disease's pathogenesis, as well as screening and control, may take place...
  27. ncbi Knowledge of risk management strategies, and information and risk management preferences of women at increased risk for ovarian cancer
    K Tiller
    Department of Medical Oncology, Prince of Wales Hospital, Sydney, Australia
    Psychooncology 14:249-61. 2005
    ..Women who reported a lower level of education (no post-school qualifications) may be most likely to benefit from additional educational strategies designed to supplement genetic counseling to improve their knowledge levels...
  28. ncbi Identification of a founder BRCA2 mutation in Sardinian breast cancer families
    Maria Monne
    Centro di Diagnostica Biomolecolare e Citogenetica Emato Oncologica, San Francesco Hospital, ASL3 via Mannironi 1, 08100 Nuoro, Italy
    Fam Cancer 6:73-9. 2007
    ..Haplotype analysis strongly suggests that all affected persons had a common ancestor. The identification of this clinically significant founder mutation may facilitate screening/testing for inherited risk of breast cancer...
  29. ncbi The role of prophylactic surgery in cancer prevention
    Y Nancy You
    Department of Surgery, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55902, USA
    World J Surg 31:450-64. 2007
    ....
  30. ncbi Familial sarcoma: challenging pedigrees
    Henry T Lynch
    Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA
    Cancer 98:1947-57. 2003
    ....
  31. ncbi A paradox: urgent BRCA genetic testing
    G Mitchell
    Cancer Genetics Team, The Institute of Cancer Research, Sutton, UK
    Fam Cancer 1:25-9. 2001
    ....
  32. ncbi Hereditary breast and ovarian cancer syndrome: should we test adolescents?
    Beata Seeber
    Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
    J Pediatr Adolesc Gynecol 17:161-7. 2004
  33. ncbi Hereditary cancer syndromes of the skin
    Brian Somoano
    Harvard Medical School, Boston, MA 02115, USA
    Clin Dermatol 23:85-106. 2005
    ..This article provides an update on the clinical features, diagnostic criteria, and the use of genetic analysis in the detection of causative mutations of those hereditary cancer syndromes with cutaneous manifestations...
  34. pmc Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data
    P van der Groep
    Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands
    J Clin Pathol 59:611-7. 2006
    ..About 5% of all breast cancer cases are attributable to germline mutations in BRCA1 or BRCA2 genes. BRCA mutations in suspected carriers, however, may be missed, which hampers genetic counselling...
  35. ncbi The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case report
    Z Damayanti
    Department of Obstetrics and Gynecology, National University Hospital, Singapore
    Int J Gynecol Cancer 16:362-5. 2006
    ..A literature review of the association between this rare malignancy and BRCA mutation carriers and its implications to prophylactic surgery is discussed...
  36. ncbi BRCA1 germline mutations in Chinese patients with hereditary breast and ovarian cancer
    N Li
    Department of Gynecological Oncology, Cancer Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China
    Int J Gynecol Cancer 16:172-8. 2006
    ..No ovarian cancer was detected after 19 months of follow-up. This study showed that BRCA1 mutations play an important role in Northern Chinese HBOC...
  37. ncbi Efficacy of screening women at high risk of hereditary ovarian cancer: results of an 11-year cohort study
    K N Gaarenstroom
    Department of Gynecology, Leiden University Medical Center, Leiden, The Netherlands
    Int J Gynecol Cancer 16:54-9. 2006
    ..We conclude that the efficacy of screening women at high risk of ovarian cancer seems poor because the majority of cancers were detected at an advanced stage...
  38. ncbi Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanoma
    Lana Pho
    Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, 84112, USA
    Curr Opin Oncol 18:173-9. 2006
    ..The clinical phenotypes of familial melanoma syndromes and genetic and environmental interactions are reviewed to summarize the current status of the field and to identify gaps in molecular and clinical investigations...
  39. ncbi No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization
    Lambertus A Kiemeney
    Department of Urology, Radboud University Nijmegen Medical Centre, P O Box 9101, NL 6500 HB Nijmegen, The Netherlands
    Cancer Epidemiol Biomarkers Prev 15:180-3. 2006
  40. ncbi Genetics of uro-genital cancer: prostate and ovary
    Ben Jemaa Khemakhem Lamia
    Service des maladies congénitales et héréditaires, EPS Charles Nicolle Tunis
    Tunis Med 83:20-2. 2005
  41. ncbi Molecular biology in colorectal cancer
    Manuel Benito
    Departamento de Bioquimica y Biologia Molecular, Facultad de Farmacia, Universidad Complutense, and Servicio de Oncologia Medica, Hospital Clinico San Carlos, Madrid, Spain
    Clin Transl Oncol 8:391-8. 2006
    ..This understanding facilitates the development of therapeutic drugs and preventive strategies...
  42. ncbi Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden
    Zakaria Einbeigi
    Department of Oncology, Sahlgrenska University Hospital, S413 45 Göteborg, Sweden
    Fam Cancer 6:35-41. 2007
    ..This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations...
  43. ncbi [Genetic counseling]
    Joji Utsunomiya
    Hyogo College of Medicine
    Gan To Kagaku Ryoho 32:967-72. 2005
    ..Based upon our experiences with 250 families having various cancers, we have attempted to extract issues to be addressed in further detail...
  44. ncbi Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer
    Laveta Stewart
    Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA
    Dermatol Nurs 18:335-41; quiz 342. 2006
  45. pmc Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families
    Francine Durocher
    Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, Centre Hospitalier Universitaire de Quebec and Laval University, Quebec, G1V 4G2, Canada
    BMC Cancer 6:230. 2006
    ..ATR appears as a good candidate breast cancer susceptibility gene and the current study was designed to screen for ATR germline mutations potentially involved in breast cancer predisposition...
  46. ncbi Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis
    Sefik Guran
    Department of Medical Biology, Gulhane Medical Faculty, Izmir Caddesi, Moda Işhani, A Blok, Kat 3, No 131, 06440 Kizilay Ankara, Turkey
    Cancer Genet Cytogenet 160:164-8. 2005
    ..Our data show the importance of detailed examination of clinical data, pedigree analyses, and molecular germline diagnostics for the counseling of breast cancer cases...
  47. ncbi Psychological impact of genetic testing for cancer susceptibility: an update of the literature
    Bettina Meiser
    Department of Medical Oncology, Prince of Wales Hospital, Sydney, Australia
    Psychooncology 14:1060-74. 2005
    ..As genetic testing is becoming available for other types of familial cancer, additional investigations will be needed as there is evidence to suggest that the impact of genetic testing may be unique to each type of familial cancer...
  48. ncbi Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype
    Marjo van Puijenbroek
    Department of Pathology, Leiden University Medical Centre, The Netherlands
    J Pathol 206:198-204. 2005
    ..It is also concluded that CHEK2 protein abrogation is not caused by the CHEK2 germline variants R117G, R137Q, R145W, I157T, and R180H in familial colorectal cancer...
  49. pmc Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families
    Mateja Krajc
    Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia
    BMC Med Genet 9:83. 2008
    ..A second objective was to determine the cancer phenotype of these families...
  50. ncbi Differences in IGFBP-3 regulation between young healthy women from BRCAX families and those belonging to BRCA1/2 families
    Helena Jernstrom
    Department of Oncology, Lund University, Lund, Sweden
    Eur J Cancer Prev 15:233-41. 2006
    ..It is possible that a subgroup of the BRCAX families has an increased risk of breast cancer because of high IGFBP-3 levels...
  51. ncbi Basic concepts for genetic testing in common hereditary colorectal cancer syndromes
    Kristina Markey
    Denver Department of Veterans Affairs Medical Center and University of Colorado Hospital Hereditary Cancer Clinic, 1055 Clermont Street, Denver, CO 80220, USA
    Curr Gastroenterol Rep 4:404-13. 2002
    ..This article describes the genetic testing strategy in HNPCC and FAP...
  52. ncbi De-mystifying genes: identifying and managing hereditary cancer
    Marianne J Davies
    Yale University School of Medicine, Section of Medcial Oncology, Yale Cancer Center, New Haven, CT, USA
    ONS Connect 22:43-4. 2007
  53. ncbi Is BRCA1 associated with familial breast cancer in India?
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer Biol Ther 1:22-3. 2002
  54. ncbi Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families
    B Vinod Kumar
    Division of Cancer Research, Indian Institute of Science, Bangalore, India 560 012
    Cancer Biol Ther 1:18-21. 2002
    ..Our data from 14 different families suggests a lower prevalence but definite involvement of germline mutations in the BRCA1 gene among Indian women with breast cancer and a family history of breast cancer...
  55. ncbi German national case collection of familial pancreatic cancer - clinical-genetic analysis of the first 21 families
    H Rieder
    Institut für Klinische Genetik, Philipps Universitat, Marburg, Germany
    Onkologie 25:262-6. 2002
    ..In order to evaluate the characteristics of familial PC, a German national case collection for familial pancreas cancer (FaPaCa) was established...
  56. pmc Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer
    Vahid R Yassaee
    North Trent Molecular Genetics Laboratory, Sheffield Children s Hospital, Western Bank, Sheffield S10 2TH, UK
    Breast Cancer Res 4:R6. 2002
    ..So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified within the Iranian population...
  57. ncbi Hereditary breast-ovarian cancer: clinical findings and medical management
    Megan Marshall
    Allegheny Cancer Center, 320 East North Avenue, Pittsburgh, PA 15212, USA
    Plast Surg Nurs 27:124-7. 2007
    ..Upon receipt of results, healthcare providers offer the patient with appropriate medical management recommendations...
  58. ncbi Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula
    A Vega
    Unidad de Medicina Molecular, Hospital de Conxo Universidad de Santiago de Compostela, Spain
    Ann Hum Genet 66:29-36. 2002
    ..The BRCA1 330 A>G mutation was found in four unrelated families and accounted for 50% of all identified mutations...
  59. ncbi [Genetic testing and counseling for familial tumor syndromes]
    Miyuki Katai
    Division of Molecular and Clinical Genetics, Shinshu University Hospital
    Gan To Kagaku Ryoho 29:502-7. 2002
    ..Genetic medicine is not sufficiently available at present in Japan. Establishment of genetic services that deal with genetic counseling, family support and ethical, social and legal issues is strongly desired...
  60. ncbi Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families
    L C Verhoog
    Division of Tumour Endocrinology, Department of Medical Oncology, Daniel den Hoed Cancer Center, University Hospital, Rotterdam, The Netherlands
    Eur J Cancer 37:2082-90. 2001
    ..Thus, large regional differences exist in the prevalence of certain specific BRCA1/BRCA2 founder mutations, even in very small areas concerning populations of approximately 200000 inhabitants...
  61. ncbi Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population
    A Meindl
    Department of Medical Genetics, Ludwig Maximilians University, Munich, Germany
    Int J Cancer 97:472-80. 2002
    ..The decision for or against molecular diagnosis is now aided by considering the expected mutation detection rates that greatly depend on family history and structure...
  62. ncbi Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing
    Miguel de la Hoya
    Laboratory of Molecular Oncology, Hospital Universitario San Carlos, Madrid, Spain
    Int J Cancer 97:466-71. 2002
    ..4% and 79%, respectively (probability cutoff of 30%). The findings of our work may be a useful tool for increasing the cost-effectiveness of genetic testing in familial cancer clinics...
  63. ncbi Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome
    Dimitrios H Roukos
    Department of Surgery, Ioannina University School of Medicine, Ioannina, Greece
    Nat Clin Pract Oncol 4:578-90. 2007
    ....
  64. ncbi BRCA1 and prostate cancer
    E M Rosen
    Department of Radiation Oncology, Long Island Jewish Medical Center, Long Island Campus, Albert Einstein College of Medicine, 270-05 76th Avenue, New Hyde Park, NY 11040, USA
    Cancer Invest 19:396-412. 2001
    ..These activities are consistent with a putative prostate tumor suppressor function of BRCA1...
  65. pmc Ovarian surface epithelium: family history and early events in ovarian cancer
    Alice S T Wong
    Department of Zoology, University of Hong Kong, Hong Kong
    Reprod Biol Endocrinol 1:70. 2003
    ..mutational hotspot of BRCA mutation for ovarian cancer? Second, why do mutations in BRCA1 and BRCA2, which are ubiquitously expressed genes that participate in general cellular activities, lead preferentially to breast and ovarian cancer?..
  66. ncbi Who should be sent for genetic testing in hereditary colorectal cancer syndromes?
    Henry T Lynch
    Department of Preventive Medicine, Creighton University School of Medicine, Omaha, NE 68178, USA
    J Clin Oncol 25:3534-42. 2007
    ..Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic...
  67. ncbi Roles and responsibilities of a medical geneticist
    Wendy S Rubinstein
    Evanston Northwestern Healthcare Center for Medical Genetics, Evanston, IL 60201, USA
    Fam Cancer 7:5-14. 2008
    ..General principles are highlighted so that these specific cases can be extrapolated to other genes and hereditary conditions by medical geneticists, genetic counselors, and others practicing in the field of cancer genetics...
  68. ncbi Hereditary cancer syndromes
    Florentia Fostira
    Molecular Diagnostics Laboratory, I RRP, National Centre for Scientific Research Demokritos, Athens, Greece
    J BUON 12:S13-22. 2007
    ....
  69. ncbi BRAF as a melanoma susceptibility candidate gene?
    Karine Laud
    Service de Genetique, Institut Gustave Roussy, 94800 Villejuif, Cedex, France
    Cancer Res 63:3061-5. 2003
    ..Moreover, there was no significant difference in the frequency of heterozygotes for BRAF variants between melanoma cases and controls when they were compared. Our data suggest that BRAF is unlikely to be a melanoma susceptibility gene...
  70. ncbi [Characteristics of selected features of hereditary ovarian cancer in carriers of constitutional BRCA1 gene mutation]
    Janusz Menkiszak
    Ginekol Pol 73:1084-9. 2002
    ..Hereditary ovarian cancer in BRCA1 constitutional mutation carriers shows a characteristic clinical pattern...
  71. ncbi A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning
    Laura M Koehly
    Department of Psychology, Texas A and M University, College Station, Texas 77843 4235, USA
    Cancer Epidemiol Biomarkers Prev 12:304-13. 2003
    ..Results of this study suggest encouraging family members who act in the mother role to take a "team approach" with the family proband when discussing HNPCC risks and management with family members...
  72. pmc The genetic basis of Muir-Torre syndrome includes the hMLH1 locus
    B Bapat
    Am J Hum Genet 59:736-9. 1996
  73. ncbi Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes
    Laura Cortesi
    Dipartimento di Oncologia ed Ematologia, Universita di Modena e Reggio Emilia, Italy
    Eur J Hum Genet 11:210-4. 2003
    ..The discovery of the BRCA2 mutation allowed us to alert the patient's daughter who, otherwise, could be falsely reassured since she had a negative BRCA1 test...
  74. ncbi Risk in numbers--difficulties in the transformation of genetic knowledge from research to people--the case of hereditary cancer
    L Sachs
    Department of Public Health Sciences, Karolinska Institutet, Stockholm, Sweden
    Acta Oncol 40:445-53. 2001
    ..These issues need clarification, so that information with far-reaching consequences can be made as clear and comprehensible as possible for those involved...
  75. doi Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example
    Sandra K Prucka
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Ala, USA
    Med Princ Pract 17:173-89. 2008
    ..In addition, tools are provided to assist in identifying these individuals in clinical practice and streamlining the referral process to a cancer genetics center...
  76. ncbi Clinical characteristics of hereditary ovarian cancer (HOC) in Poland
    Janusz Menkiszak
    Dept of Genetics and Pathology Pomeranian Medical Academy
    Ginekol Pol 73:733-9. 2002
    ..Hereditary ovarian cancer (HOC), as any genetic disease, may display clinical characteristics that depends on population...
  77. doi Familial myelodysplasia and acute myeloid leukaemia--a review
    Carolyn Owen
    Centre for Medical Oncology, Barts and the London School of Medicine and Dentistry, London, UK
    Br J Haematol 140:123-32. 2008
    ..Unfortunately, the genetic cause remains obscure in most other reported pedigrees. Further insight into the molecular mechanisms of familial MDS/AML will require awareness by clinicians of new patients with relevant family histories...
  78. ncbi Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer
    A Figer
    The Institute of Oncology, Tel Aviv Medical Center, Tel Aviv, Israel
    Clin Genet 62:298-302. 2002
    ..This study suggests that PTEN does not play a major role in predisposing to hereditary breast cancer in Israeli women, and that detection of PTEN mutations in BRRS patients is more likely in familial cases...
  79. ncbi Can we identify the high-risk patients to be screened? A genetic approach
    Amanda Gammon
    Department of Medicine, University of Utah, Salt Lake City, UT 84112 5550, USA
    Digestion 76:7-19. 2007
    ..Through this review, we hope to show that the identification of high-risk patients is possible, though sometimes difficult...
  80. ncbi The genetics of hereditary colon cancer
    Anil K Rustgi
    Dapartment of Medicine Gastrointestinal, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Genes Dev 21:2525-38. 2007
    ....
  81. ncbi The genetics of ovarian cancer
    Paul D P Pharoah
    Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Worts Causeway, Cambridge, CB1 8RN, UK
    Best Pract Res Clin Obstet Gynaecol 16:449-68. 2002
    ..The evidence for the existence of other ovarian cancer genes is then considered...
  82. ncbi Genetic risk profiles for cancer susceptibility and therapy response
    Helmut Bartsch
    Deutsches Krebsforschungszentrum, Toxicology and Cancer Risk Factors, Heidelberg, Germany
    Recent Results Cancer Res 174:19-36. 2007
    ..Before translating these findings into clinical use and application for public health measures, large population-based studies and validation of the results will be required...
  83. pmc Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome
    Zhi Xing Yao
    Department of Gastroenterology, MD Anderson Cancer Center, Houston, Texas 77030, USA
    J Biol Chem 285:36112-20. 2010
    ....
  84. ncbi Guidelines for diagnosis and therapy of MEN type 1 and type 2
    M L Brandi
    Department of Internal Medicine, University of Florence, 50139 Florence, Italy
    J Clin Endocrinol Metab 86:5658-71. 2001
    ....
  85. ncbi Deciphering adaptor specificity in GFL-dependent RET-mediated proliferation and neurite outgrowth
    Jason A Gustin
    Department of Pathology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurochem 102:1184-94. 2007
    ....
  86. pmc Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report
    Cristian D Valenzuela
    Department of Surgery, NYU Langone Medical Center, New York, USA
    World J Surg Oncol 7:94. 2009
    ..It is important to develop genotype-phenotype correlations for HNPCC, as is being done for other hereditary cancer syndromes, in order to guide surveillance and treatment strategies in the future...
  87. ncbi Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services
    Edenir Inez Palmero
    Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
    Community Genet 10:110-9. 2007
    ....
  88. ncbi Tumorigenesis facilitated by Pten deficiency in the skin: evidence of p53-Pten complex formation on the initiation phase
    Nobuyasu Komazawa
    Department of Social and Environmental Medicine, Osaka University, Suita, 565 0871, Japan
    Cancer Sci 95:639-43. 2004
    ..These observations suggest that Pten is involved in rapid recruitment of p53 in the tumor initiation phase...
  89. ncbi Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree relatives
    A Y Kinney
    University of Utah College of Nursing, Salt Lake City, Utah 84112, USA
    Cancer 91:57-65. 2001
    ..Currently, however, little is known about the behavioral, psychosocial, ethical, legal, and economic outcomes of CRC genetic counseling and testing...
  90. ncbi Genetic counseling in hereditary non-polyposis colorectal cancer
    A Heouaine
    , Istituto Nazionaleper la Ricerca sul Cancro, Genova, Italy
    Tumori 82:136-42. 1996
    ..In this way, pilot studies, involving both clinicians and researchers, can be undertaken with the aim of providing comprehensive results, potentially applicable to other cancer-predisposing conditions...
  91. ncbi Hereditary breast cancer considering Cowden syndrome: a case study
    Patricia Kelly
    Presbyterian Hospital of Dallas, Jackson Building, 6th Floor, 8200 Walnut Hill Ln, Dallas, TX 75231, USA
    Cancer Nurs 26:370-5. 2003
    ....
  92. doi Contending visions in the evolution of genetic medicine: the case of cancer genetic services in Ontario, Canada
    Fiona Alice Miller
    Health Policy, Management and Evaluation, University of Toronto, 155 College Street, 4th Floor, Toronto, Ontario M5T 3M6, Canada
    Soc Sci Med 67:152-60. 2008
    ..Yet questions about who will control genetic technologies are not simply turf battles between the professions: they are also inescapably questions about what the genetic technologies should and will accomplish clinically...
  93. ncbi Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience
    L Foretova
    Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic
    Klin Onkol 23:388-400. 2010
    ..However, in some patients the testing is not recommended and other family members are dying because of the late diagnosis of hereditary syndrome. Greater awareness of the importance of genetic testing in oncology is needed...
  94. doi Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes
    Susanne Magnusson
    Department of Oncology, Institution of Clinical Sciences, Lund University, Lund University Hospital, Lund, 22185, Sweden
    Fam Cancer 7:331-7. 2008
    ..4; 95% CI 3.5-44.1), MMR genes (OR 29.0; 95% CI 9.1-92.6), and CDKN2A (OR 30.2; 95% CI 7.0-131.1). This study suggests that the risk for childhood tumors is increased in families with germline mutations in the BRCA2, MMR and CDKN2A genes...
  95. ncbi Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome
    Henry T Lynch
    Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA
    Cancer 94:84-96. 2002
    ....
  96. ncbi Expansion of a mutated clone: from stem cell to tumour
    S J Leedham
    Histopathology Department, Cancer Research UK, London, UK
    J Clin Pathol 61:164-71. 2008
    ..This model has been used to suggest that short-range interaction between adjacent initiated crypts, not random polyp collision, is responsible for tumour polyclonality...
  97. ncbi Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibility
    C W Wang
    Medical Ethics Unit, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Pokfulam, Hong Kong
    Reprod Biomed Online 19:23-33. 2009
    ..e. informed choice, beneficence to children and social justice, and their implications for the responsible translation of these medical techniques into common practice of preventive medicine are highlighted...
  98. ncbi Are there two sides to colorectal cancer?
    Barry Iacopetta
    Department of Surgery, University of Western Australia, Nedlands, Australia
    Int J Cancer 101:403-8. 2002
    ....
  99. pmc BRCA1/2 genetic background-based therapeutic tailoring of human ovarian cancer: hope or reality?
    Pierosandro Tagliaferri
    Medical Oncology Unit and Center for Genetic Counseling and Innovative Treatments, Tommaso Campanella Cancer Center, Catanzaro 88100, Italy
    J Ovarian Res 2:14. 2009
    ..The presently available preclinical and clinical evidence clearly indicates that genetic background has an emerging role in treatment individualization for ovarian cancer patients...
  100. doi Array-comparative genomic hybridization in sporadic benign pheochromocytomas
    Francien H van Nederveen
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Endocr Relat Cancer 16:505-13. 2009
    ..In addition, genes on 21q and 22q might play a more important role in PCC pathogenesis than had been assumed thus far...
  101. pmc Inherited predisposition to glioma
    Athanassios P Kyritsis
    University Hospital of Ioannina, Neurosurgical Research Institute, University of Ioannina School of Medicine, University Campus, Ioannina 45110, Greece
    Neuro Oncol 12:104-13. 2010
    ..Future molecular diagnosis may identify new genomic regions that could harbor genes important for glioma predisposition and aid in the early diagnosis of these patients and genetic counseling of their families...

Research Grants77

  1. Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis For Inherited
    Lisa Rubin; Fiscal Year: 2009
    ....
  2. Genetic Discrimination Knowledge in Primary Care
    Jeffrey Weitzel; Fiscal Year: 2003
    ..Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications. ..
  3. Genetic Discrimination Knowledge in Primary Care
    Jeffrey Weitzel; Fiscal Year: 2004
    ..Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications. ..
  4. THE 'GREAT' SYSTEM TO IDENTIFY FAMILIAL CANCER RISK
    Louise Acheson; Fiscal Year: 2002
    ..abstract_text> ..
  5. THE 'GREAT' SYSTEM TO IDENTIFY FAMILIAL CANCER RISK
    Louise Acheson; Fiscal Year: 2003
    ..abstract_text> ..
  6. THE 'GREAT' SYSTEM TO IDENTIFY FAMILIAL CANCER RISK
    Louise Acheson; Fiscal Year: 2004
    ..abstract_text> ..
  7. THE 'GREAT' SYSTEM TO IDENTIFY FAMILIAL CANCER RISK
    Louise Acheson; Fiscal Year: 2001
    ..abstract_text> ..
  8. THE 'GREAT' SYSTEM TO IDENTIFY FAMILIAL CANCER RISK
    Louise Acheson; Fiscal Year: 2000
    ..abstract_text> ..
  9. THE 'GREAT' SYSTEM TO IDENTIFY FAMILIAL CANCER RISK
    Louise Acheson; Fiscal Year: 2005
    ..abstract_text> ..
  10. MULTIPLE RISKS, DECISIONS & BEHAVIORS IN THE GENOMIC ERA
    Karen Hurley; Fiscal Year: 2009
    ..g., women over 50 undergoing routine breast, colorectal, cervical, and skin cancer surveillance). ..
  11. MULTIPLE RISKS, DECISIONS & BEHAVIORS IN THE GENOMIC ERA
    Karen Hurley; Fiscal Year: 2007
    ..g., women over 50 undergoing routine breast, colorectal, cervical, and skin cancer surveillance). [unreadable] [unreadable] [unreadable]..
  12. MULTIPLE RISKS, DECISIONS & BEHAVIORS IN THE GENOMIC ERA
    Karen Hurley; Fiscal Year: 2006
    ..g., women over 50 undergoing routine breast, colorectal, cervical, and skin cancer surveillance). [unreadable] [unreadable] [unreadable]..
  13. MULTIPLE RISKS, DECISIONS & BEHAVIORS IN THE GENOMIC ERA
    Karen E Hurley; Fiscal Year: 2010
    ..g., women over 50 undergoing routine breast, colorectal, cervical, and skin cancer surveillance). ..
  14. POPULATION-BASED GENETIC RISK INTERVENTION VIA THE WEB
    Robert Robbins; Fiscal Year: 2000
    ..A small proportion of eligible participants will be offered genetic counseling to consider genetic mutation testing. The main outcomes of this project are cancer worry, perceived risk, quality of life, and breast screening intentions. ..
  15. POPULATION-BASED GENETIC RISK INTERVENTION VIA THE WEB
    Robert Robbins; Fiscal Year: 2002
    ..A small proportion of eligible participants will be offered genetic counseling to consider genetic mutation testing. The main outcomes of this project are cancer worry, perceived risk, quality of life, and breast screening intentions. ..
  16. POPULATION-BASED GENETIC RISK INTERVENTION VIA THE WEB
    Robert Robbins; Fiscal Year: 1999
    ..A small proportion of eligible participants will be offered genetic counseling to consider genetic mutation testing. The main outcomes of this project are cancer worry, perceived risk, quality of life, and breast screening intentions. ..
  17. POPULATION-BASED GENETIC RISK INTERVENTION VIA THE WEB
    Robert Robbins; Fiscal Year: 2001
    ..A small proportion of eligible participants will be offered genetic counseling to consider genetic mutation testing. The main outcomes of this project are cancer worry, perceived risk, quality of life, and breast screening intentions. ..
  18. EDRN: Clinical Epidemiology & Validation Centers
    Henry T Lynch; Fiscal Year: 2010
    ..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
  19. EDRN: Clinical Epidemiology & Validation Centers
    Henry Lynch; Fiscal Year: 2005
    ..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
  20. EDRN: Clinical Epidemiology & Validation Centers
    Henry Lynch; Fiscal Year: 2006
    ..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
  21. EDRN: Clinical Epidemiology & Validation Centers
    Henry Lynch; Fiscal Year: 2009
    ..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
  22. Core--Familial cancer risk facility
    John Ziegler; Fiscal Year: 2002
    ..g. modifier genes) to clinical application. ..
  23. Genetic Testing and Cancer Screening in Hereditary Cancer Syndromes
    Elena Stoffel; Fiscal Year: 2007
    ..Identification of factors which impact cancer screening behaviors and cancer risk stratification will lead to improvements in clinical care for all patients at risk for CRC. ..
  24. Genetic Testing and Cancer Screening in Hereditary Cancer Syndromes
    Elena Martinez Stoffel; Fiscal Year: 2010
    ..Identification of factors which impact cancer screening behaviors and cancer risk stratification will lead to improvements in clinical care for all patients at risk for CRC. ..
  25. Genetic Testing and Cancer Screening in Hereditary Cancer Syndromes
    Elena Stoffel; Fiscal Year: 2009
    ..Identification of factors which impact cancer screening behaviors and cancer risk stratification will lead to improvements in clinical care for all patients at risk for CRC. ..
  26. Genetic Testing and Cancer Screening in Hereditary Cancer Syndromes
    Elena Stoffel; Fiscal Year: 2009
    ..Identification of factors which impact cancer screening behaviors and cancer risk stratification will lead to improvements in clinical care for all patients at risk for CRC. ..
  27. EDRN: Clinical Epidemiology & Validation Centers
    Henry Lynch; Fiscal Year: 2008
    ..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
  28. EDRN: Clinical Epidemiology & Validation Centers
    Henry Lynch; Fiscal Year: 2007
    ..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
  29. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2002
    ....
  30. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
    ....
  31. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2001
    ....
  32. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2003
    ....
  33. HEREDITARY CANCER RISK/OUTCOME IN BREAST CANCER PATIENTS
    Jeffrey Weitzel; Fiscal Year: 2000
    ..abstract_text> ..
  34. Genetic Testing and Cancer Screening in Hereditary Cancer Syndromes
    Elena Stoffel; Fiscal Year: 2008
    ..Identification of factors which impact cancer screening behaviors and cancer risk stratification will lead to improvements in clinical care for all patients at risk for CRC. ..
  35. COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISK
    Sean Tavtigian; Fiscal Year: 2008
    ....
  36. COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISK
    Sean Tavtigian; Fiscal Year: 2009
    ....
  37. COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISK
    Sean Tavtigian; Fiscal Year: 2007
    ....
  38. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    Fergus Couch; Fiscal Year: 2009
    ..The modifiers may also lead to development of improved risk assessment models that better discriminate between high and lower risk BRCA1 mutation carriers. ..
  39. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2008
    ..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  40. Genetic epidemiology of cell division regulation in breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  41. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  42. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2008
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  43. BRCA2 missense mutations and breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  44. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  45. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..The modifiers may also lead to development of improved risk assessment models that better discriminate between high and lower risk BRCA1 mutation carriers. ..
  46. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    Fergus Couch; Fiscal Year: 2008
    ..The modifiers may also lead to development of improved risk assessment models that better discriminate between high and lower risk BRCA1 mutation carriers. ..
  47. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  48. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  49. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2007
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  50. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2003
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  51. P21 INDUCTION BY BRCA2
    Fergus Couch; Fiscal Year: 2002
    ....
  52. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2006
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  53. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2005
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  54. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2007
    ..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  55. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2002
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  56. PET IMAGING IN MULTIMODALITY MANAGEMENT OF RECTAL CANCER
    Jose Guillem; Fiscal Year: 2001
    ..abstract_text> ..
  57. PET IMAGING IN MULTIMODALITY MANAGEMENT OF RECTAL CANCER
    Jose Guillem; Fiscal Year: 2000
    ..abstract_text> ..
  58. PET IMAGING IN MULTIMODALITY MANAGEMENT OF RECTAL CANCER
    Jose Guillem; Fiscal Year: 1999
    ..abstract_text> ..
  59. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2004
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  60. Epidemiology of Syndromic GI Stromal Tumors
    Judy Garber; Fiscal Year: 2009
    ..Our goal is to define the spectrum of syndromic GISTs, and to generate the information that will form the basis for clinical counseling for members of GIST kindreds, with and without germline mutations in KIT or PDGFRA. ..
  61. INCIDENCE AND MOLECULAR SCREENING FOR HEREDITARY CANCER
    Albert de la Chapelle; Fiscal Year: 2002
    ..abstract_text> ..
  62. CHROMOSOME 22Q GENETIC STUDIES IN THE COLON
    Anil Rustgi; Fiscal Year: 2007
    ..These innovative and cohesive studies will permit important mechanistic insights into molecular pathogenesis and create a platform for translational applications. ..
  63. HIN-1,A Novel Putative Breast Tumor Suppressor Gene
    Kornelia Polyak; Fiscal Year: 2004
    ..abstract_text> ..
  64. The Biology and Diagnosis of HNPCC
    CLEMENT BOLAND; Fiscal Year: 2006
    ..abstract_text> ..
  65. Postdoctoral Training in Cancer Genetics
    Albert de la Chapelle; Fiscal Year: 2007
    ..Trainees will be trained by the program with the necessary skills to establish independent research programs in translational cancer research. ..
  66. BREAST CANCER PREVENTION IN HODGKINS DISEASE
    Judy Garber; Fiscal Year: 2002
    ..We will also evaluate mammographic density as a potential intermediate endpoint that might permit more rapid completion of a randomized study. ..
  67. HISTOLOGIC AND MOLECULAR CHANGES IN UC TUMORIGENESIS
    Teresa Brentnall; Fiscal Year: 2002
    ..Moreover, this knowledge could help provide the underpinnings for development of cancer prevention strategies. ..
  68. Germline epimutation of hMLH1 as a factor in HNPCC
    David Martin; Fiscal Year: 2006
    ..They may also produce the first clear evidence that epigenetic silencing can be inherited to produce a familial disorder such as HNPCC. [unreadable] [unreadable] [unreadable]..
  69. HISTOLOGIC AND MOLECULAR CHANGES IN UC TUMORIGENESIS
    Teresa Brentnall; Fiscal Year: 2001
    ..Moreover, this knowledge could help provide the underpinnings for development of cancer prevention strategies. ..
  70. HISTOLOGIC AND MOLECULAR CHANGES IN UC TUMORIGENESIS
    Teresa Brentnall; Fiscal Year: 2000
    ..Moreover, this knowledge could help provide the underpinnings for development of cancer prevention strategies. ..
  71. MicroRNAs and chromosome 22q in the colon
    Anil Rustgi; Fiscal Year: 2009
    ..Our studies hope to reveal new paradigms in CRC pathogenesis, and offer opportunities for exploiting this knowledge in novel diagnostics and therapeutics. ..
  72. Epidemiology of Syndromic GI Stromal Tumors
    Judy Garber; Fiscal Year: 2007
    ..Our goal is to define the spectrum of syndromic GISTs, and to generate the information that will form the basis for clinical counseling for members of GIST kindreds, with and without germline mutations in KIT or PDGFRA. ..
  73. CHROMOSOME 22Q GENETIC STUDIES IN THE COLON
    Anil Rustgi; Fiscal Year: 2006
    ..These innovative and cohesive studies will permit important mechanistic insights into molecular pathogenesis and create a platform for translational applications. ..
  74. HIN-1,A Novel Putative Breast Tumor Suppressor Gene
    Kornelia Polyak; Fiscal Year: 2005
    ..abstract_text> ..
  75. MEDICAL SCIENTIST TRAINING PROGRAM
    Sharon Plon; Fiscal Year: 2007
    ..Graduates are accepted into highly competitive residency programs and many receive academic appointments at leading health care institutions across the United States. ..