Genomes and Genes
S B Gruber
Affiliation: University of Michigan
- Common variation in ISL1 confers genetic susceptibility for human congenital heart diseaseKristen N Stevens
Department of Epidemiology, University of Michigan, Ann Arbor, Michigan, USA
PLoS ONE 5:e10855. 2010..Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations...
- Comparison of seven methods for producing Affymetrix expression scores based on False Discovery Rates in disease profiling dataKerby Shedden
Department of Statistics, University of Michigan, Ann Arbor, Michigan, USA
BMC Bioinformatics 6:26. 2005....
- Pathogenesis of adenocarcinoma in Peutz-Jeghers syndromeS B Gruber
Division of Molecular Medicine and Genetics, University of Michigan, Ann Arbor 48109, USA
Cancer Res 58:5267-70. 1998..Additional somatic mutational events underlie the progression of hamartomas to adenocarcinomas, and some of these somatic mutations are common to the later stages of tumor progression seen in the majority of colorectal carcinomas...
- New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testingStephen B Gruber
Department of Internal Medicine, Division of Molecular Medicine and Genetics, University of Michigan, Ann Arbor, 48109, USA
Gastroenterology 130:577-87. 2006
- Population stratification in epidemiologic studies of founder populationsStephen B Gruber
Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109 0638, USA
Cancer Biomark 3:123-8. 2007..Examples from studies of colorectal cancer in Ashkenazi Jewish populations, and studies of smoking behavior in Caucasians of European origin, Mexican-Americans, Japanese and Han Chinese illustrate these principles...
- The value of small observations in the era of big scienceStephen B Gruber
Division of Molecular Medicine and Genetics, Departments of Internal Medicine, Epidemiology, and Human Genetics, 4301 MSRBIII, University of Michigan, Ann Arbor, MI 48109 0638, USA
Cancer Epidemiol Biomarkers Prev 14:2472-3. 2005
- The genetics of hereditary non-polyposis colorectal cancerStephen B Gruber
Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA
J Natl Compr Canc Netw 1:137-44. 2003....
- Risk of pancreatic cancer in families with Lynch syndromeFay Kastrinos
Department of Internal Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
JAMA 302:1790-5. 2009..A number of extracolonic tumors have been associated with the disorder, including pancreatic cancer; however, the risk of pancreatic cancer in Lynch syndrome is uncertain and not quantified...
- Phenotype of microsatellite unstable colorectal carcinomas: Well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instabilityJoel K Greenson
Department of Pathology, Universit of Michigan Health System, Ann Arbor, 48109, USA
Am J Surg Pathol 27:563-70. 2003..The combination of >2 tumor infiltrating lymphocytes per high power field and/or any mucinous differentiation and/or the absence of dirty necrosis identified all MSI-H tumors in this study...
- Health behaviors of head and neck cancer patients the first year after diagnosisSonia A Duffy
VA HSR and D Center for Practice Management and Outcomes Research, VA Ann Arbor Healthcare System, Ann Arbor, Michigan, USA
Head Neck 30:93-102. 2008..This prospective, cohort study is the first to describe 5 health behaviors of head and neck cancer patients the first year after diagnosis...
- BRAF and NRAS mutations in melanoma and melanocytic neviJenny N Poynter
Department of Epidemiology, University of Michigan, Ann Arbor, Michigan 48109 2200, USA
Melanoma Res 16:267-73. 2006..We suggest that BRAF mutations contribute to benign melanocytic hyperplasia, but are likely to contribute to invasive melanoma only in conjunction with other mutations...
- APC I1307K and the risk of prostate cancerJenny N Poynter
Division of Molecular Medicine and Genetics, University of Michigan, 4301 MSRB III, Ann Arbor, MI 48109 0638, USA
Cancer Epidemiol Biomarkers Prev 15:468-73. 2006..Overall, the evidence for an association between APC I1307K and prostate cancer is not compelling. APC I1307K is unlikely to play a clinically meaningful role in susceptibility to prostate cancer...
- BRCA1 and BRCA2 founder mutations and the risk of colorectal cancerBethany L Niell
Department of Internal Medicine, Division of Molecular Medicine and Genetics, University of Michigan Medical School, Ann Arbor, MI 48109 0638, USA
J Natl Cancer Inst 96:15-21. 2004..We investigated BRCA1/2 founder mutations and a family history of breast cancer as potential risk factors for colorectal cancer...
- Adiponectin gene and risk of colorectal cancerM C Gornick
Department of Human Genetics, University of Michigan School of Medicine, 1524 BSRB, 109 Zina Pitcher, Ann Arbor, MI, USA
Br J Cancer 105:562-4. 2011..However, variants of the adiponectin gene (ADIPOQ) have been demonstrated to be inconsistently associated with risk of colorectal cancer...
- Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markersKimberly A Zuhlke
Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48109 0946, USA
Clin Cancer Res 10:5975-80. 2004..To examine the possibility that germ-line BRCA1 mutations were associated with hereditary prostate cancer, individuals from 93 families with evidence of linkage to chromosome 17q were screened for germ-line BRCA1 mutations...
- FGFR2 is a breast cancer susceptibility gene in Jewish and Arab Israeli populationsLeon Raskin
Department of of Internal Medicine, University of Michigan Medical School and School of Public Health, Ann Arbor, MI 48109, USA
Cancer Epidemiol Biomarkers Prev 17:1060-5. 2008..The identification of population-specific risk haplotypes in FGFR2 is likely to help identify causal variants for breast cancer...
- FOXP3 germline polymorphisms are not associated with risk of breast cancerLeon Raskin
Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Cancer Genet Cytogenet 190:40-2. 2009..Although FOXP3 is a biologically relevant gene in the pathogenesis of breast cancer, germline variation was not meaningfully associated with risk of the disease...
- Organ-specific molecular classification of primary lung, colon, and ovarian adenocarcinomas using gene expression profilesT J Giordano
Department of Pathology, The University of Michigan, Ann Arbor, Michigan 48109 0054, USA
Am J Pathol 159:1231-8. 2001....
- AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndromeMonica L Marvin
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
Am J Med Genet A 155:898-902. 2011..Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome...
- Disclosing individual CDKN2A research results to melanoma survivors: interest, impact, and demands on researchersKurt D Christensen
Department of Health Behavior and Health Education, University of Michigan School of Public Health, 1415 Washington Heights, Ann Arbor, MI 48109 2029, USA
Cancer Epidemiol Biomarkers Prev 20:522-9. 2011..Whether to return individual research results from cancer genetics studies is widely debated, but little is known about how participants respond to results disclosure or about its time and cost burdens on investigators...
- Incidence of initial local therapy among men with lower-risk prostate cancer in the United StatesDavid C Miller
Department of Urology, University of Michigan, Ann Arbor, MI, USA
J Natl Cancer Inst 98:1134-41. 2006....
- The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based studyMarianne Berwick
University of New Mexico, Department of Internal Medicine, New Mexico Cancer Research Facility, MSC08 4630, Room 103A, 1 University of New Mexico, Albuquerque, NM 87131, USA
Cancer Epidemiol Biomarkers Prev 15:1520-5. 2006..The results suggest that the relative risk of mutation carriers in the population may be lower than currently believed and that different mutations on the CDKN2A gene may confer substantially different risks of melanoma...
- Multiple forms of genetic instability within a 2-Mb chromosomal segment of 3q26.3-q27 are associated with development of esophageal adenocarcinomaLin Lin
Department of Surgery Thoracic Section, University of Michigan Medical School, B560 MSRB2, Box 0686, Ann Arbor, MI 48109, USA
Genes Chromosomes Cancer 45:319-31. 2006..Thus, the fine dissection of a 2-Mb amplified DNA segment in 3q26.3-q27 in EA revealed multiple genetic alterations that had occurred sequentially and/or concurrently during EA development...
- BRAF and NRAS mutations in spitzoid melanocytic lesionsDouglas R Fullen
Department of Pathology, University of Michigan, Ann Arbor, MI 48109 0602, USA
Mod Pathol 19:1324-32. 2006..Therefore, the BRAF mutational status does not separate all Spitz nevi from spitzoid melanomas and non-Spitz types of melanocytic proliferations, contrary to previous reports...
- Tests for gene-environment interaction from case-control data: a novel study of type I error, power and designsBhramar Mukherjee
Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA
Genet Epidemiol 32:615-26. 2008....
- Case-control studies of gene-environment interaction: Bayesian design and analysisBhramar Mukherjee
Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA
Biometrics 66:934-48. 2010..The Bayesian design and analysis strategies are compared with their corresponding frequentist counterparts...
- Returning individual research results: development of a cancer genetics education and risk communication protocolJ Scott Roberts
Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109 2029, USA
J Empir Res Hum Res Ethics 5:17-30. 2010....
- Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosisAmy E Rothberg
Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109 5354, USA
Thyroid 19:651-5. 2009..This is a report of a patient with a novel genotype-phenotype relationship of a c804 mutation of the RET proto-oncogene manifesting as medullary thyroid carcinoma (MTC) and cutaneous lichen amyloidosis (CLA)...
- Gene expression patterns in mismatch repair-deficient colorectal cancers highlight the potential therapeutic role of inhibitors of the phosphatidylinositol 3-kinase-AKT-mammalian target of rapamycin pathwayEduardo Vilar
Department of Internal Medicine, The University of Michigan Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Clin Cancer Res 15:2829-39. 2009..Our objective was to identify low molecular weight compounds with preferential activity against MSI colorectal cancers using combined gene expression data sets...
- Pretreatment health behaviors predict survival among patients with head and neck squamous cell carcinomaSonia A Duffy
VA Health Services Research and Development Center of Excellence, VA Ann Arbor Healthcare System 11H, PO Box 130170, Ann Arbor, MI 48113 0170, USA
J Clin Oncol 27:1969-75. 2009..Our prior work has shown that the health behaviors of head and neck cancer patients are interrelated and are associated with quality of life; however, other than smoking, the relationship between health behaviors and survival is unclear...
- Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general populationTuan A Dinh
Archimedes, Inc, San Francisco, California, USA
Cancer Prev Res (Phila) 4:9-22. 2011....
- First description of parathyroid disease in multiple endocrine neoplasia 2A syndromeJames C Sisson
Department of Radiology, Division of Nuclear Medicine, University of Michigan Health System, UH B1 G505D, Ann Arbor, MI 48109 0028, USA
Endocr Pathol 19:289-93. 2008..The initial report of the proband preceded the publications defining both MTC and MEN 2A. The values of in-depth family histories and genetic analyses are exemplified...
- Pathologic predictors of microsatellite instability in colorectal cancerJoel K Greenson
Department of Pathology, The University of Michigan Health System, Ann Arbor, MI 48109 0054, USA
Am J Surg Pathol 33:126-33. 2009..Although this model is not perfect in predicting microsatellite instability, its use could improve the efficiency of expensive diagnostic testing...
- Smoking, gender, and ethnicity predict somatic BRAF mutations in colorectal cancerLaura S Rozek
Environmental Health Sciences, School of Public Health, University of Michigan Medical School, Ann Arbor, MI 48109 2200, USA
Cancer Epidemiol Biomarkers Prev 19:838-43. 2010..Epidemiologic studies of CRC should incorporate somatic characteristics to fully appreciate risk factors for this disease...
- Pediatric duodenal cancer and biallelic mismatch repair gene mutationsSumita Roy
Division of Pediatric Hematology Oncology, Dept of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan 48109 0238, USA
Pediatr Blood Cancer 53:116-20. 2009..We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene...
- History and molecular genetics of Lynch syndrome in family G: a century laterJulie A Douglas
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
JAMA 294:2195-202. 2005..Described today as a Lynch syndrome family, family G was last documented in 1971, prior to the modern era of molecular diagnostics...
- Genetic variation in 8q24 associated with risk of colorectal cancerStephen B Gruber
Department of Internal Medicine, University of Michigan Medical School, 109 Zina Pitcher, Ann Arbor, Michigan 48109, USA
Cancer Biol Ther 6:1143-7. 2007..2 (95% bootstrap CI = 1.16-17.8). Genetic variation at rs10505477 on 8q24 potentially accounts for 14% of CRC in this population and should be replicated in other studies...
- Accurate molecular classification of human cancers based on gene expression using a simple classifier with a pathological tree-based frameworkKerby A Shedden
Department of Statistics, University of Michigan, Ann Arbor, MI 48109 1027, USA
Am J Pathol 163:1985-95. 2003..Our findings suggest that accurate and robust cancer diagnosis from gene expression profiles can be achieved by mimicking the classification strategies routinely used by surgical pathologists...
- Risk perception and concern among brothers of men with prostate carcinomaJennifer L Beebe-Dimmer
Department of Urology, University of Michigan Medical School, Ann Arbor, Michigan, USA
Cancer 100:1537-44. 2004....
- Use of complementary and alternative medicine in men with family history of prostate cancer: a pilot studyJennifer L Beebe-Dimmer
Department of Urology, University of Michigan Medical School, Ann Arbor, Michigan 48109 0946, USA
Urology 63:282-7. 2004..To describe the use of complementary and alternative medicines (CAMs) among men with a family history of prostate cancer and to evaluate the relationship between selected sociodemographic and behavioral characteristics and the use of CAMs...
- Staging workup, sentinel node biopsy, and follow-up tests for melanoma: update of current conceptsTimothy M Johnson
Department of Dermatology, University of Michigan Comprehensive Cancer Center, University of Michigan Health System, Ann Arbor 48109 0314, USA
Arch Dermatol 140:107-13. 2004..To clarify and update workup and follow-up strategies based on fundamental principles and current data, and to discuss new and current concepts regarding sentinel lymph node biopsy (SLNB), particularly in relation to the staging workup...
- EGF gene polymorphism and the risk of incident primary melanomaKandace L Amend
Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA
Cancer Res 64:2668-72. 2004..Additional independent studies will be required to elucidate relationships between genetic variation in the EGF gene and risk of melanoma...
- CDX2 polymorphisms, RNA expression, and risk of colorectal cancerLaura S Rozek
Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48109 0638, USA
Cancer Res 65:5488-92. 2005....
- Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-betaJulie A Douglas
Department of Human Genetics, University of Michigan, Room 5912, Buhl Building, Ann Arbor, MI 48109 0618, USA
Cancer Epidemiol Biomarkers Prev 14:2035-9. 2005....
- Risk of colorectal cancer in self-reported inflammatory bowel disease and modification of risk by statin and NSAID useN Jewel Samadder
Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
Cancer 117:1640-8. 2011..The objective of this study was to quantify the relative risk of inflammatory bowel disease (IBD) as a risk factor for CRC and to estimate whether this risk may be modified by long-term use of NSAIDs or statins...
- Statins and the risk of colorectal cancerJenny N Poynter
Department of Epidemiology, University of Michigan, Ann Arbor 48109 0638, USA
N Engl J Med 352:2184-92. 2005..Statins inhibit the growth of colon-cancer cell lines, and secondary analyses of some, but not all, clinical trials suggest that they reduce the risk of colorectal cancer...
- APC E1317Q is not associated with Colorectal Cancer in a population-based case-control study in Northern IsraelLaura S Rozek
Division of Molecular Medicine and Genetics, University of Michigan, 1524 BSRB, 109 Zina Pitcher, Box 2200, Ann Arbor, MI 48109 2200, USA
Cancer Epidemiol Biomarkers Prev 15:2325-7. 2006..Given the substantial size of our study and the consistency of our findings with the results of our meta-analyses, we conclude that it is unlikely that APC E1317Q is associated with a clinically meaningful risk of colorectal cancer...
- Adenoma-infiltrating lymphocytes (AILs) are a potential marker of hereditary nonpolyposis colorectal cancerAlexandros D Polydorides
Department of Pathology, University of Michigan Health System, Ann Arbor, MI 48109 0054, USA
Am J Surg Pathol 32:1661-6. 2008..Therefore, increased numbers of AILs and decreased numbers of apoptoses in colorectal adenomas are simple and inexpensive markers that raise the possibility of HNPCC...
- Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the AshkenazimBethany L Niell
Department of Internal Medicine, Division of Molecular Medicine and Genetics, University of Michigan Medical School, Ann Arbor, MI 48109 0638, USA
Am J Hum Genet 73:1250-60. 2003..This research underscores the importance of the migratory patterns of ancestral populations in the ethnic and geographic distribution of APC I1307K...
- Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndromeL Raskin
Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA
Clin Genet 79:512-22. 2011..Together with other AJ founder mutations, they contribute substantially to the incidence of CRC and EnCa and are important tools for the early diagnosis and appropriate management of AJ Lynch syndrome patients...
- BLM heterozygosity and the risk of colorectal cancerStephen B Gruber
Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, MI 48109, USA
Science 297:2013. 2002
- Human papillomavirus is not associated with colorectal cancer in a large international studyMichele C Gornick
Department of Human Genetics, School of Medicine, University of Michigan, 109 Zina Pitcher, Ann Arbor, MI 48109 2200, USA
Cancer Causes Control 21:737-43. 2010..Recent publications have reported an association between colon cancer and human papillomaviruses (HPV), suggesting that HPV infection of the colonic mucosa may contribute to the development of colorectal cancer...
- Microsatellite instability in colorectal cancer-the stable evidenceEduardo Vilar
Department of Internal Medicine, University of Michigan Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Nat Rev Clin Oncol 7:153-62. 2010..Transcriptome expression profiles of MSI tumors and systems biology approaches are providing the opportunity to develop targeted therapeutics for MSI CRC...
- Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studiesJ A Douglas
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
Nat Genet 28:361-4. 2001..We show that, particularly when phenotyping is expensive, conversion-based haplotyping can be more efficient and cost-effective than standard genotyping...
- R726L androgen receptor mutation is uncommon in prostate cancer families in the united statesStephen B Gruber
Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
Prostate 54:306-9. 2003..We set out to determine the incidence of this mutation in a sample of men with either early-onset and/or familial prostate cancer in the United States...
- Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutationMonica L Marvin
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA
Head Neck 31:689-94. 2009..The recognition of patients with hereditary PGL and identification of the responsible gene are important for the management of index patients and family members...
- Quality of life scores predict survival among patients with head and neck cancerCarrie A Karvonen-Gutierrez
Veterans Affairs VA Health Services Research and Development Center for Practice Management and Outcomes Research, VA Ann Arbor Healthcare System 11H, Ann Arbor, MI 48113 0170, USA
J Clin Oncol 26:2754-60. 2008..The purpose of this study was to examine whether quality of life (QOL) scores predict survival among patients with head and neck cancer, controlling for demographic, health behavior, and clinical variables...
- Endometrial cancer: socioeconomic status and racial/ethnic differences in stage at diagnosis, treatment, and survivalTerri Madison
School of Public Health, University of Michigan, Ann Arbor, MI, USA
Am J Public Health 94:2104-11. 2004..We evaluated the association between socioeconomic status and racial/ ethnic differences in endometrial cancer stage at diagnosis, treatment, and survival...
- Genetics of colorectal cancerJoanne M Jeter
University of Michigan, Ann Arbor, USA
Oncology (Williston Park) 20:269-76; discussion 285-6, 288-9. 2006..In this review, we will describe the phenotypes, genotypes, diagnosis, and management of hereditary colon cancer syndromes...
- CDX2-regulated expression of iron transport protein hephaestin in intestinal and colonic epitheliumTakao Hinoi
Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109 2216, USA
Gastroenterology 128:946-61. 2005..To enhance knowledge of CDX2 function, we sought to define CDX2-regulated genes...
- Anti-oncogenic role of the endoplasmic reticulum differentially activated by mutations in the MAPK pathwayChristophe Denoyelle
Department of Dermatology and Comprehensive Cancer Center, University of Michigan, 1500E Medical Center Drive, 4217 CCGC, Ann Arbor, MI 48109, USA
Nat Cell Biol 8:1053-63. 2006..These results argue against premature senescence as a converging mechanism of response to activating oncogenes and support a direct role of the ER as a gatekeeper of tumour control...
- Rescue of fatal neonatal hemorrhage in factor V deficient mice by low level transgene expressionT L Yang
Department of Human Genetics, University of Michigan, Ann Arbor, USA
Thromb Haemost 83:70-7. 2000....
- A design for cancer case-control studies using only incident cases: experience with the GEM study of melanomaColin B Begg
Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Int J Epidemiol 35:756-64. 2006..The use of a novel case-control design in which cases have second primaries and controls are cancer survivors has been proposed for this purpose...
- Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patientsBrian Y Shin
Division of Hematology Oncology, Department of Medicine, University of California Irvine, 92697, USA
Dis Colon Rectum 48:1723-7. 2005....
- Colorectal Cancer Screening Clinical Practice GuidelinesBernard Levin
J Natl Compr Canc Netw 4:384-420. 2006
- Colorectal polyps in carriers of the APC I1307K polymorphismGad Rennert
Department of Community Medicine and Epidemiology, CHS National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel
Dis Colon Rectum 48:2317-21. 2005..The prevalence of polyps and adenomas in specimens of colorectal cancer who are carriers and noncarriers of the APC I1307K polymorphism is compared...
- Vulvar melanoma: a report of 20 cases and review of the literatureMary Ellen Wechter
Department of Obstetrics and Gynecology, University of Michigan Health System, University of Michigan Comprehensive Cancer Center, Ann Arbor 48109 0314, USA
J Am Acad Dermatol 50:554-62. 2004..Vulvar melanoma is the second most common vulvar malignancy and represents a significant women's health issue...
- Prediction of germline mutations and cancer risk in the Lynch syndromeSining Chen
Department of Environmental Health Sciences, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA
JAMA 296:1479-87. 2006..Current clinical guidelines are effective but limited by applicability and cost...
- CDKN2A germline mutations in individuals with cutaneous malignant melanomaIrene Orlow
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
J Invest Dermatol 127:1234-43. 2007..With the exception of the variant in position -34 of CDKN2A of known functional consequence, the remaining rare variants in the non-coding region have no apparent impact on risk...
- Familial aggregation of melanoma risks in a large population-based sample of melanoma casesColin B Begg
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Cancer Causes Control 15:957-65. 2004..In this study we use information from a large series of incident cases of melanoma from an international population-based study to examine the patterns of incidence of melanoma in the first-degree relatives of these cases...
- The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancerSteven M Lipkin
Division of Oncology, Department of Medicine, University of California, Irvine, Irvine, California 92697, USA
Nat Genet 36:694-9. 2004..These studies suggest that variants of mismatch repair proteins with attenuated function may account for a higher proportion of susceptibility to sporadic microsatellite-stable CRC than previously assumed...
- Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibilityXavier Sole
Bioinformatics and Biostatistics Unit, and Translational Research Laboratory, Catalan Institute of Oncology, IDIBELL, L Hospitalet, Barcelona, Spain
BMC Genomics 9:12. 2008..Variation at 8q24 has also recently been associated with risk of breast and colorectal cancer. However, none of the risk variants map at or relatively close to known genes, with c-MYC mapping a few hundred kilobases distally...
- Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sampleColin B Begg
Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Natl Cancer Inst 97:1507-15. 2005..In this study, we examined lifetime melanoma risk among CDKN2A mutation carriers using carriers who were identified in a population-based study of melanoma...
- Statins and cancer preventionMarie France Demierre
Department of Dermatology, Boston University School of Medicine, 720 Harrison Avenue DOB 801A, Boston, MA 02118, USA
Nat Rev Cancer 5:930-42. 2005..This understanding might also help the development of drugs for other ageing-related diseases with interrelated molecular pathways...
- Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma StudyRobert C Millikan
Department of Epidemiology, CB 7435, School of Public Health, University of North Carolina, Chapel Hill, NC 27599, USA
Carcinogenesis 27:610-8. 2006..ORs for XPD and XPC genotypes were stronger for melanoma diagnosed at an early age, but tests for interaction were not statistically significant. The results provide further evidence for a role of XPD in the etiology of melanoma...
- Gynecologic malignancies in Ashkenazi families with the MSH2 A636P founder mutationOfer Lavie
Division of Gynecology and Oncology, Carmel Medical Center, B Rappaport Faculty of Medicine, Technion, Haifa, Israel
Am J Obstet Gynecol 199:148.e1-3. 2008..Although the incidence of colorectal cancer in carriers is relatively well established, the frequency of other tumors is less clear...
- Prostate cancer early detection practices among men with a family history of diseaseCathryn H Bock
Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor 48109 0946, USA
Urology 62:470-5. 2003....
- Network modeling links breast cancer susceptibility and centrosome dysfunctionMiguel Angel Pujana
Center for Cancer Systems Biology CCSB, Dana Farber Cancer Institute and Department of Genetics, Harvard Medical School, 44 Binney St, Boston, Massachusetts 02115, USA
Nat Genet 39:1338-49. 2007..Our network modeling strategy should be useful for the discovery of additional cancer-associated genes...
- Vulvar melanoma in a 10-year-old girl in association with lichen sclerosusLorraine L Rosamilia
J Am Acad Dermatol 54:S52-3. 2006
- Small changes in expression affect predisposition to tumorigenesisHai Yan
The Howard Hughes Medical Institute, The Oncology Center, and the Department of Medicine, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Nat Genet 30:25-6. 2002....
- Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomasWendy W J de Leng
Department of Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Clin Cancer Res 9:3065-72. 2003..DNA was studied for loss of heterozygosity (LOH) at 19p (STK11), 5q (APC), and 17p (TP53); mutations in beta-catenin, APC, and K-RAS; and microsatellite instability...
- Sharing genetic test results in Lynch syndrome: communication with close and distant relativesElena M Stoffel
Division of Gastroenterology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Clin Gastroenterol Hepatol 6:333-8. 2008..Clinical genetic testing can help direct cancer screening for members of Lynch syndrome families; however, there is limited information about family communication of genetic test results...
- Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21Albert Tenesa
Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit, Edinburgh EH4 2XU, UK
Nat Genet 40:631-7. 2008..008) and rs4939827 (P < 0.009). Carrying all six possible risk alleles yielded OR = 2.6 (95% CI = 1.75-3.89) for CRC. These findings extend our understanding of the role of common genetic variation in CRC etiology...
- Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)Elizabeth C Chao
Genetic Epidemiology Research Institute, University of California, Irvine, Irvine, California, USA
Hum Mutat 29:852-60. 2008..MAPP-MMR is an effective bioinformatic tool for missense variant interpretation that accurately distinguishes MLH1/MSH2 deleterious variants from neutral variants...
- Hyperglycemia, obesity, and cancer risks on the horizonKathleen A Cooney
JAMA 293:235-6. 2005
- Clinical implications of founder and recurrent CDH1 mutations in hereditary diffuse gastric cancerKirsten N Kangelaris
JAMA 297:2410-1. 2007
- Relative frequency and morphology of cancers in STK11 mutation carriersWendy Lim
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
Gastroenterology 126:1788-94. 2004..There is limited data on the spectrum and risk for cancer associated with germline serine/threonine protein kinase 11 (STK11) mutations that cause Peutz-Jeghers syndrome (PJS)...
- Merkel cell carcinoma and the controversial role of adjuvant radiation therapy: clinical choices in the absence of statistical evidenceLynn D Wilson
Departments of Therapeutic Radiology and Dermatology, Yale University School of Medicine, HRT 136, 333 Cedar Street, New Haven, CT 06520, USA
J Am Acad Dermatol 50:435-7; discussion 437-8. 2004
- Population-based study of natural variation in the melanocortin-1 receptor gene and melanomaPeter A Kanetsky
Department of Biostatistics and Epidemiology and Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6021, USA
Cancer Res 66:9330-7. 2006....
- Cancer risks in BRCA1 carriers: time for the next generation of studiesStephen B Gruber
J Natl Cancer Inst 94:1344-5. 2002
- MOLECULAR EPIDEMIOLOGY OF COLORECTAL CANCERStephen Gruber; Fiscal Year: 2008..abstract_text> ..