Research Topics
Genomes and Genes
| Timothy R RebbeckSummaryAffiliation: University of Pennsylvania Country: USA Publications
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Publications
Dietary intake of Senegalese adultsCheryl Am Anderson
Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Welch Center for Prevention, Epidemiology and Clinical Research, 2024 E, Monument Street, Ste 2 600, Baltimore, MD 21205, USA
Nutr J 9:7. 2010..There were no differences in reported daily intake of each food by age, ethnicity, education, or residence. Most foods reported were traditional to the Senegalese diet, despite the increasing availability of Western foods in Senegal...
Exploring the link between MORF4L1 and risk of breast cancerGriselda Martrat
Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
Breast Cancer Res 13:R40. 2011..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriersLogan C Walker
Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
Breast Cancer Res 12:R102. 2010..In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies...
Incorporating tumour pathology information into breast cancer risk prediction algorithmsNasim Mavaddat
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
Breast Cancer Res 12:R28. 2010..In particular, oestrogen receptor (ER)-negative status, triple-negative (TN) status, and expression of basal markers are predictive of BRCA1 mutation carrier status...
Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort studyPriya P Gor
Center for Cancer and Hematologic Disease, 1930 E Route 70, Cherry Hill, NJ 08003, USA
Breast Cancer Res 12:R26. 2010..We hypothesize that functional single nucleotide polymorphisms (SNPs) in drug metabolizing enzymes (DMEs) that activate (CYPs) or metabolize (GSTs) cyclophosphamide account for some of the observed variability in disease outcomes...
Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriersSusan L Neuhausen
Department of Epidemiology, University of California Irvine, 224 Irvine Hall, Irvine, CA 92697, USA
Breast Cancer Res 11:R76. 2009..In this study, we investigate the association of variants in genes involved in IGF signaling and risk of breast cancer in women who carry deleterious BRCA1 and BRCA2 mutations...
Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriersTimothy R Rebbeck
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
J Natl Cancer Inst 101:80-7. 2009..To guide women and their clinicians in optimizing cancer prevention strategies, we summarized the magnitude of the risk reductions in women with BRCA1/2 mutations who have undergone RRSO compared with those who have not...
Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American womenTimothy R Rebbeck
Abramson Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Carcinogenesis 30:269-74. 2009..We further report that these genes confer their effects in HER2- tumors, interact with one another to confer breast cancer susceptibility in AA women and interact with hormone exposures in AA and EA women...
Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomyTimothy R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, 217 Blockley Hall, 423 Guardian Drive, Philadelphia, Pennsylvania 19104 6021, USA
Cancer Epidemiol Biomarkers Prev 19:2115-23. 2010..Macroenvironmental factors represent novel surrogates for exposures, lifestyle, and other factors that are difficult to measure but might influence cancer outcomes...
Effect of hormone metabolism genotypes on steroid hormone levels and menopausal symptoms in a prospective population-based cohort of women experiencing the menopausal transitionTimothy R Rebbeck
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
Menopause 17:1026-34. 2010..This study evaluated whether genes involved in the metabolism of steroid hormones are associated with hormone levels or menopausal symptoms...
Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriersTimothy R Rebbeck
Center for Clinical Epidemiology and Biostatistics and Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA
Breast Cancer Res 10:108. 2008..Here, we discuss the clinical decision-making implications of this research in the context of risk factors that may influence risk estimates in BRCA1/2 mutation carriers...
Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriersTimothy R Rebbeck
Abramson Cancer Center, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Cancer Res 69:5801-10. 2009..026). Variants in genes that interact biologically withBRCA1 and/or BRCA2 may be associated with modified ovarian cancer risk in women who carry BRCA1/2 mutations...
Joint effects of inflammation and androgen metabolism on prostate cancer severityTimothy R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
Int J Cancer 123:1385-9. 2008..026) and tumor stage (interaction p-value = 0.017). These results suggest that androgen metabolism may act in concert with inflammatory phenotypes such as BPH in determining prostate cancer severity...
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort studyTimothy R Rebbeck
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
Breast Cancer Res Treat 115:185-92. 2009..The L10P variant of TGFB1 is associated with higher circulating levels and secretion of TGF-beta, and recent large-scale studies suggest strongly that this variant is associated with breast cancer risk in the general population...
Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer riskTimothy R Rebbeck
Department of Biostatistics and Epidemiology and Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Dr, Philadelphia, PA 19104 6021, USA
J Natl Cancer Inst 98:1311-20. 2006..To investigate the mechanism of this association, we evaluated whether risk of endometrial cancer was associated with the genotypes involved in steroid hormone metabolism and the duration of exogenous hormone use...
Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiologyTimothy R Rebbeck
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104 6021, USA
Cancer Epidemiol Biomarkers Prev 16:444-50. 2007....
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortalitySusan M Domchek
Abramson Cancer Center and Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, USA
JAMA 304:967-75. 2010..Mastectomy and salpingo-oophorectomy are widely used by carriers of BRCA1 or BRCA2 mutations to reduce their risks of breast and ovarian cancer...
Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriersSusan M Domchek
Abramson Cancer Center, The University of Pennsylvania School of Medicine, 3W Perelman Center, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA
Breast Cancer Res Treat 124:195-203. 2010..An unacceptably high proportion of pathologic examinations did not adequately examine ovaries and fallopian tubes obtained at RRSO...
Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriersTara M Friebel
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
Clin Breast Cancer 7:875-82. 2007..The availability of these risk-reduction strategies is an important consideration in the decision to undergo genetic testing...
Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study GroupTimothy R Rebbeck
Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
J Clin Oncol 23:7804-10. 2005..Thus, we evaluated whether the breast cancer risk reduction conferred by BPO in BRCA1/2 mutation carriers is altered by use of post-BPO HRT...
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study GroupTimothy R Rebbeck
Center for Clinical Epidemiology and Biostatistics, Abramson Family Cancer Research Institute, The University of Pennsylvania, Philadelphia, PA 19104-6021, USA
J Clin Oncol 22:1055-62. 2004..CONCLUSION: Bilateral prophylactic mastectomy reduces the risk of breast cancer in women with BRCA1/2 mutations by approximately 90%...
Lack of effect modification between estrogen metabolism genotypes and combined hormone replacement therapy in postmenopausal breast cancer riskTimothy R Rebbeck
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6021, USA
Cancer Epidemiol Biomarkers Prev 16:1318-20. 2007
Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American menHanna Rennert
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Health System, 7 Gates West, 3400 Spruce Street, Philadelphia, PA 19104, USA
Cancer Epidemiol Biomarkers Prev 14:949-57. 2005..Therefore, MSR1 and RNASEL may play a role in prostate cancer progression and severity...
Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approachPeter A Kanetsky
Department of Biostatistics and Epidemiology, Division of Hematology Oncology, Center for Clinical Epidemiology and Biostatistics and Epidemiology, University of Pennsylvania, 903 Blockley Hall, Philadelphia, PA 19104 6021
Cancer Epidemiol Biomarkers Prev 13:808-19. 2004..S. Caucasians. Risk variants defined by either the published literature or by evolutionary criteria are strongly and significantly associated with all fair pigmentation phenotypes that were measured...
Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?Peter A Kanetsky
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Cancer 116:2416-28. 2010..A study was carried out to describe associations of MC1R variants and melanoma in a US population and to investigate whether genetic risk is modified by pigmentation characteristics and sun exposure measures...
Impact of misclassification in genotype-exposure interaction studies: example of N-acetyltransferase 2 (NAT2), smoking, and bladder cancerAnne C Deitz
Center for Cancer Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, USA
Cancer Epidemiol Biomarkers Prev 13:1543-6. 2004..This example illustrates how reducing genotype misclassification can result in substantial decreases in sample size requirements and possibly substantial decreases in the cost of studies to evaluate interactions...
Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort studySusan M Domchek
Abramson Cancer Centre, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6021, USA
Lancet Oncol 7:223-9. 2006..Together, these data could give information to women who are considering genetic testing...
The joint effect of smoking and AIB1 on breast cancer risk in BRCA1 mutation carriersSusan Colilla
Department of Biostatistics and Epidemiology and Medicine and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Carcinogenesis 27:599-605. 2006....
A retrospective case-control study of the use of hormone-related supplements and association with breast cancerTimothy R Rebbeck
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
Int J Cancer 120:1523-8. 2007..Additional confirmatory studies are required to determine whether black cohosh could be used to prevent breast cancer...
CYP3A4, CYP3A5, and CYP3A43 genotypes and haplotypes in the etiology and severity of prostate cancerCharnita Zeigler-Johnson
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Cancer Res 64:8461-7. 2004....
Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the AmericasKlara Stefflova
Department of Biostatistics and Epidemiology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
PLoS ONE 4:e7842. 2009..Genetic ancestry may influence genetic association studies due to differences in individual admixture within recently admixed populations like African Americans...
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting GenesTimothy R Rebbeck
Abramson Cancer Center, Center for Clinical Epidemiology and Biostatistics, and Department of Medicine, The University of Pennsylvania Perleman School of Medicine, Philadelphia, Pennsylvania, USA
Cancer Res 71:5792-805. 2011..Overall, the data suggest that genomic variation at multiple loci that encode proteins that interact biologically with BRCA1 are associated with modified breast cancer and ovarian cancer risk in women who carry BRCA1 mutations...
Case-control study of postmenopausal hormone replacement therapy and endometrial cancerBrian L Strom
Department of Medicine, School of Medicine, University of Pennsylvania, Philadelphia, 19104 6021, USA
Am J Epidemiol 164:775-86. 2006..Thus, if HRT is to be used in women with an intact uterus, this study confirms the benefit of adding progestins to the regimen...
The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer familiesMaurizia Dalla Palma
Division of Medical Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Cancer Res 68:7006-14. 2008..Whereas these findings should be confirmed in larger sample sets, our data suggest that genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%...
P gene as an inherited biomarker of human eye colorTimothy R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Cancer Epidemiol Biomarkers Prev 11:782-4. 2002..001), or the combination of both variants (P = 0.003). These results suggest that P gene, in part, determines normal phenotypic variation in human eye color and may therefore represent an inherited biomarker of cutaneous cancer risk...
Genetic polymorphisms in human SULT1A1 and UGT1A1 genes associate with breast tumor characteristics: a case-series studyEkaterina G Shatalova
Department of Pharmacology, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
Breast Cancer Res 7:R909-21. 2005....
Impact of raloxifene or tamoxifen use on endometrial cancer risk: a population-based case-control studyAngela DeMichele
Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA
J Clin Oncol 26:4151-9. 2008....
Evaluation of prostate cancer characteristics in four populations worldwideCharnita M Zeigler-Johnson
University of Pennsylvania, Philadelphia, Pennsylvania, USA
Can J Urol 15:4056-64. 2008..Although a major health issue, little is known about prostate cancer presentation in West Africa and India compared to the United States (US)...
Prophylactic oophorectomy in women at increased cancer riskSusan M Domchek
Abramson Cancer Center, Philadelphia, Pennsylvania, USA
Curr Opin Obstet Gynecol 19:27-30. 2007..Therefore, decisions regarding the timing of bilateral prophylactic salpingo-oophorectomy and the use of post-bilateral prophylactic salpingo-oophorectomy hormone replacement therapy must be carefully considered...
Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2 mutation carriersSusan M Domchek
Abramson Cancer Center, University of Pennsylvania, 14 Penn Tower, Philadelphia, PA 19104, USA
J Natl Compr Canc Netw 4:177-82. 2006..This article reviews the studies regarding BRRO in BRCA1/2 mutation carriers, with particular focus on the use of HRT...
BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinicHelen A Shih
Abramson Family Cancer Research Institute and Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
J Clin Oncol 20:994-9. 2002..To determine the prevalence of BRCA1 and BRCA2 mutations in families identified in a breast cancer risk evaluation clinic...
Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutationsTimothy R Rebbeck
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia 19104 6021, USA
N Engl J Med 346:1616-22. 2002..We investigated whether this procedure reduces the risk of cancers of the coelomic epithelium and breast in women who carry such mutations...
Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutationsEsme Finlay
Division of Hematology Oncology, Department of Internal Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104 4283, USA
Genet Test 12:81-91. 2008..We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing...
Preventive surgery is associated with reduced cancer risk and mortality in women with BRCA1 and BRCA2 mutationsSusan M Domchek
Leonard Davis Institute of Health Economics, University of Pennsylvania, Philadelpha, PA 19104, USA
LDI Issue Brief 16:1-4. 2010..The results are consistent with earlier studies and provide strong evidence for the use of preventive surgery as an effective approach to managing this genetic risk...
Evaluating bias due to population stratification in epidemiologic studies of gene-gene or gene-environment interactionsYiting Wang
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104-6021, USA
Cancer Epidemiol Biomarkers Prev 15:124-32. 2006..However, when linkage disequilibrium among genes or correlations among genes and environments were small, biases to main effects or interaction odds ratios were small to nonexistent...
A propensity score approach to correction for bias due to population stratification using genetic and non-genetic factorsHuaqing Zhao
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, 19104 6021, USA
Genet Epidemiol 33:679-90. 2009..The GPS method provides a novel and robust tool for obtaining less-biased estimates of genetic associations that can consider both genetic and non-genetic factors...
Genetic susceptibility to prostate cancer in men of African descent: implications for global disparities in incidence and outcomesCharnita M Zeigler-Johnson
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6021, USA
Can J Urol 15:3872-82. 2008..The causes of these disparities are poorly understood...
Inherited predisposition and breast cancer: modifiers of BRCA1/2-associated breast cancer riskTimothy R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine and Cancer Center, Philadelphia, Pennsylvania 19104 6021, USA
Environ Mol Mutagen 39:228-34. 2002..Therefore, although germline BRCA1/2 mutations raise a woman's breast and ovarian cancer risk, other factors may interact with BRCA1/2 mutations to modulate this risk...
Validation of genome-wide prostate cancer associations in men of African descentBao Li Chang
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, 217 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104, USA
Cancer Epidemiol Biomarkers Prev 20:23-32. 2011..There is limited information about the role of these loci in men of African descent...
Dissecting the within-Africa ancestry of populations of African descent in the AmericasKlara Stefflova
Department of Biostatistics and Epidemiology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
PLoS ONE 6:e14495. 2011..Here, we dissect the within-Africa genetic ancestry of various populations of the Americas self-identified as having primarily African ancestry using uniparentally inherited mitochondrial DNA...
Drug-metabolizing enzyme polymorphisms predict clinical outcome in a node-positive breast cancer cohortAngela DeMichele
Department of Biostatistics and Epidemiology, Abramson Cancer Center, PA, USA
J Clin Oncol 23:5552-9. 2005..Genotypes in drug-metabolizing enzymes, including functional polymorphisms in cytochrome P450 (CYP) and glutathione S-transferases (GST), may predict treatment-related outcomes...
A polymorphism in the agouti signaling protein gene is associated with human pigmentationPeter A Kanetsky
Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 6021, USA
Am J Hum Genet 70:770-5. 2002..This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk...
Genetics, epidemiology, and cancer disparities: is it black and white?Timothy R Rebbeck
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
J Clin Oncol 24:2164-9. 2006..Therefore, it is critical to properly consider the meaning, definitions, and use of race, ethnicity, or ancestry in molecular epidemiologic studies...
Bias correction with a single null marker for population stratification in candidate gene association studiesYiting Wang
Department of Biostatistics, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6021, USA
Hum Hered 59:165-75. 2005..Our results suggested that marker choice and the specific treatment of that marker in analysis greatly influenced bias correction...
Assessing the function of genetic variants in candidate gene association studiesTimothy R Rebbeck
Department of Biostatistics and Epidemiology, and Abramson Cancer Center, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Drive, Philadelphia, Pennsylvania 19104, USA
Nat Rev Genet 5:589-97. 2004
Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detectionLucinda Hughes
Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
Cancer Epidemiol Biomarkers Prev 21:53-60. 2012..We evaluated clinical information from six polymorphisms associated with early-onset prostate cancer in a longitudinal cohort of high-risk men enrolled in prostate cancer early detection with significant African American participation...
Evaluating bias due to population stratification in case-control association studies of admixed populationsYiting Wang
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania 19104-6021, USA
Genet Epidemiol 27:14-20. 2004..Therefore, bias due to PS alone may be small when baseline risk differences are small within major categories of admixed ethnicity, such as African Americans...
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....
SNPs, haplotypes, and cancer: applications in molecular epidemiologyTimothy R Rebbeck
Department of Biostatistics and Epidemiology, School of Medicine, Abramson Cancer Center, University of Pennsylvania, 904 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104-6021, USA
Cancer Epidemiol Biomarkers Prev 13:681-7. 2004
Ethnicity, ancestry, and race in molecular epidemiologic researchTimothy R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104-6021, USA
Cancer Epidemiol Biomarkers Prev 14:2467-71. 2005
Members of the glutathione and ABC-transporter families are associated with clinical outcome in patients with diffuse large B-cell lymphomaCharalambos Andreadis
Abramson Cancer Center, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA
Blood 109:3409-16. 2007....
Association of catechol-O-methyltransferase with smoking cessation in two independent studies of womenSusan Colilla
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Pharmacogenet Genomics 15:393-8. 2005..To determine if the lower activity Met allele of COMT was associated with smoking cessation in women, we used two independent studies: a population-based case--control study and a nicotine replacement clinical trial...
Inherited genotype and prostate cancer outcomesTimothy R Rebbeck
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Cancer Epidemiol Biomarkers Prev 11:945-52. 2002....
CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5qKatherine L Nathanson
Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Hum Mol Genet 11:1327-32. 2002..The approach described here may be utilized to identify penetrance modifiers in other autosomal dominant syndromes...
Racial differences in prediction of time to prostate cancer diagnosis in a prospective screening cohort of high-risk men: effect of TMPRSS2 Met160ValVeda N Giri
Cancer Prevention and Control Program, Department of Clinical Genetics, Surgical Oncology, Fox Chase Cancer Center, Philadelphia, PA, USA
BJU Int 107:466-70. 2011....
Immunohistochemical expression of erythropoietin and erythropoietin receptor in breast carcinomaGeza Acs
Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia 19104, USA
Cancer 95:969-81. 2002....
Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation CarriersBrian S Finkelman
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, 217 Blockley Hall, 423 Guardian Dr, Philadelphia, PA 19104 6021
J Clin Oncol 30:1321-8. 2012..In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care...
Association of functional polymorphisms in CYP19A1 with aromatase inhibitor associated arthralgia in breast cancer survivorsJun J Mao
Department of Family Medicine and Community Health, University of Pennsylvania School of Medicine, 3400 Spruce Street 2 Gates, Philadelphia, PA 19104, USA
Breast Cancer Res 13:R8. 2011....
Epidemiological approaches to the identification of cancer predisposition genesTimothy R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, USA
Methods Mol Biol 222:309-25. 2003..Association studies may be more appropriate means of determining a role for these genes in cancer etiology...
The contribution of inherited genotype to breast cancerTimothy R Rebbeck
Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, and Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Breast Cancer Res 4:85-9. 2002....
Genetics, disparities, and prostate cancerTimothy R Rebbeck
Center for Population Health and Health Disparities, Univeristy of Pennsylvania, Philadelphia, Pennsylvania, USA
LDI Issue Brief 10:1-4. 2005..This Issue Brief reviews current knowledge about the genetic basis of prostate cancer and summarizes ongoing research at Penn that investigates the role of genetics in prostate cancer treatment and outcomes...
Prostate cancer severity associations with neighborhood deprivationCharnita M Zeigler-Johnson
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
Prostate Cancer 2011:846263. 2011..19-1.52; OR?=?1.71, 95% CI?=?1.21-2.40, resp.). Conclusion. Using a neighborhood deprivation index, we observed associations between high-grade prostate cancer and neighborhood deprivation in Caucasians and African-Americans...
Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13John M Maris
Department of Pediatrics, University of Pennsylvania School of Medicine and Children s Hospital of Philadelphia, Abramson Pediatric Research Center, Philadelphia, Pennsylvania 19104 4318, USA
Cancer Res 62:6651-8. 2002..Taken together, these data suggest that a hereditary neuroblastoma predisposition gene (HNB1) is located at 16p12-13 and that disruption of this gene may contribute to the pathogenesis of nonfamilial neuroblastomas...
New developments in the epidemiology of cancer prognosis: traditional and molecular predictors of treatment response and survivalChristine B Ambrosone
Department of Epidemiology; Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
Cancer Epidemiol Biomarkers Prev 15:2042-6. 2006
In response to "Drug metabolizing enzyme polymorphisms predict clinical outcome in a node-positive breast cancer cohort"Angela DeMichele
J Clin Oncol 25:5675-7. 2007
Ambient UV, personal sun exposure and risk of multiple primary melanomasAnne Kricker
School of Public Health, University of Sydney, Edward Ford Building A27, NSW, 2006, Australia, and Women s College Hospital, Toronto, ON, Canada
Cancer Causes Control 18:295-304. 2007..Sun exposure is the main cause of melanoma in populations of European origin. No previous study has examined the effect of sun exposure on risk of multiple primary melanomas compared with people who have one melanoma...
Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation programMarcia S Brose
Department of Medicine and Abramson Family Cancer Research Institute, University of Pennsylvania Cancer Center, Philadelphia 19104, USA
J Natl Cancer Inst 94:1365-72. 2002..The purpose of this study was to estimate BRCA1-related cancer risks for individuals ascertained in a breast cancer risk evaluation clinic...
Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective studyNoah D Kauff
Clinical Genetics and Gynecology Services, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Box 192, New York, NY 10021, USA
J Clin Oncol 26:1331-7. 2008....
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studiesAntonis C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
Am J Hum Genet 81:1186-200. 2007..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 studyFergus J Couch
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905, USA
Cancer Epidemiol Biomarkers Prev 16:1416-21. 2007..In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers...
Ancestry estimation and correction for population stratification in molecular epidemiologic association studiesJill S Barnholtz-Sloan
Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, 11100 Euclid Avenue, Cleveland, OH 44106-5065, USA
Cancer Epidemiol Biomarkers Prev 17:471-7. 2008
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAntonis C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
Am J Hum Genet 82:937-48. 2008....
Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancerLori J Pierce
Department of Radiation Oncology, University of Michigan School of Medicine, Ann Arbor, MI 48109 0010, USA
J Clin Oncol 24:2437-43. 2006..We compared the outcome of breast-conserving surgery and radiotherapy in BRCA1/2 mutation carriers with breast cancer versus that of matched sporadic controls...
Common 8q24 sequence variations are associated with Asian Indian advanced prostate cancer riskYing cai Tan
Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10065, USA
Cancer Epidemiol Biomarkers Prev 17:2431-5. 2008..These results confirm the significance of these SNPs in prostate cancer etiology in a previously unstudied population who do not undergo prostate cancer screening and are diagnosed with severe disease...
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...
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...
Inherited genetic markers and cancer outcomes: personalized medicine in the postgenome eraTimothy R Rebbeck
J Clin Oncol 24:1972-4. 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...
Analysis of the RNASEL/HPC1, and macrophage scavenger receptor 1 in Asian-Indian advanced prostate cancerHanna Rennert
Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York 10021, USA
Urology 72:456-60. 2008..Substantially less is known about gene variation-associated PC in low-risk populations. The objective of this study was to investigate the role of RNASEL and MSR1 in Asian-Indian men with advanced PC...
Genetic variation and cancer: improving the environment for publication of association studiesTimothy R Rebbeck
Cancer Epidemiol Biomarkers Prev 13:1985-6. 2004
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...
Glutathione S-transferases M1, T1, and P1 and breast cancer: a pooled analysisFlorian D Vogl
IARC, Lyon, France
Cancer Epidemiol Biomarkers Prev 13:1473-9. 2004..The results conclusively show that single gene GST polymorphisms do not confer a substantial risk of breast cancer to its carriers. Furthermore, GSTs did not interact with smoking or reproductive history to modify cancer risk...
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...
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...
Research Grants
- Ethnic difference in prostate cancerTimothy R Rebbeck; Fiscal Year: 2010....
- Modifiers of Cancer Risk in BRCA 1/2 Mutation CarriersTimothy Rebbeck; Fiscal Year: 2007..Our substantial multidisciplinary experience will therefore allow us to readily translate basic science and epidemiological data to clinically relevant information. ..
- Molecular Epidemiology of MelanomaTimothy Rebbeck; Fiscal Year: 2003..Analyses will be undertaken to evaluate the role of candidate genotypes and other risk factors in melanoma etiology, including genotype by environment interactions. ..
- ETIOLOGIC HETEROGENEITY IN LATE ONSET BREAST CANCERTimothy Rebbeck; Fiscal Year: 2001..The results of these analyses will be used to attempt to elucidate the complex, multifactorial aetiology of late onset breast cancer. ..
- Prophytactic surgery in carriers of BRCA 1/2 mutationsTimothy R Rebbeck; Fiscal Year: 2010..These studies will motivate future studies of BRCA1/2-associated breast tumor biology, prevention, and treatment. ..
