Research Topics
Genomes and Genes
| T R RebbeckSummaryAffiliation: University of Pennsylvania Country: USA Publications
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Publications
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....
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...
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...
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...
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....
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...
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....
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
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
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...
Pharmacogenetic modulation of combined hormone replacement therapy by progesterone-metabolism genotypes in postmenopausal breast cancer riskT R Rebbeck
Center for Clinical Epidemiology and Biostatistics and Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA
Am J Epidemiol 166:1392-9. 2007..Breast cancer risk in women who have used CHRT may be influenced by genetic factors involved in progestin metabolism...
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
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...
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....
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
Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive historyT R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Cancer Res 61:5420-4. 2001..Our results support the hypothesis that pathways involving endocrine signaling, as measured through AIB1 genotype and reproductive history, may have a substantial effect on BRCA1/2-associated breast cancer risk...
Association of HPC2/ELAC2 genotypes and prostate cancerT R Rebbeck
Department of Biostatistics and Epidemiology and Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Am J Hum Genet 67:1014-9. 2000..These results suggest that common variants at HPC2/ELAC2 are associated with CaP risk in a sample unselected for family history or other factors associated with CaP risk...
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...
Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriersT R Rebbeck
T R Rebbeck, A Eisen, B L Weber, Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
J Natl Cancer Inst 91:1475-9. 1999..This study was undertaken to evaluate whether bilateral prophylactic oophorectomy is associated with a reduction in breast cancer risk in BRCA1 mutation carriers...
Prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriersT R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
J Clin Oncol 18:100S-3S. 2000..However, substantial additional information is required to provide clinically useful information about cancer prevention to women who carry mutations in BRCA1 or BRCA2...
Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeatT R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104, USA
Am J Hum Genet 64:1371-7. 1999..These results suggest that pathways involving androgen signaling may affect the risk of BRCA1-associated breast cancer...
Glutathione S-transferase-mu (GSTM1) and -theta (GSTT1) genotypes in the etiology of prostate cancerT R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
Cancer Epidemiol Biomarkers Prev 8:283-7. 1999..GST-theta is highly expressed in the prostate and can produce genotoxic effects upon exposure to specific carcinogens. These results suggest that GSTT1 is associated with CaP risk...
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...
Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2T R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia 19104 6021, USA
Am J Hum Genet 59:547-53. 1996..BRCA1 and BRCA2 probably explain the majority of hereditary breast cancer that exists in the North American population. However, one or more additional genes may yet be found that explain some proportion of hereditary breast cancer...
Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4T R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia 19104 6021, USA
J Natl Cancer Inst 90:1225-9. 1998..The goal of this study was to evaluate the effect of CYP3A4, a gene associated with the oxidative deactivation of testosterone, on the clinical presentation of prostate cancers...
Nucleotide substitution in the ectodomain of trail receptor DR4 is associated with lung cancer and head and neck cancerM J Fisher
Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Clin Cancer Res 7:1688-97. 2001..Our results suggest that the altered DR4 alleles may be associated with, and should be investigated additionally as potential markers for, predisposition to common malignancies...
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%...
Interaction of glutathione S-transferase M1 and T1 genotypes and malignant melanomaP A Kanetsky
Departments of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Cancer Epidemiol Biomarkers Prev 10:509-13. 2001..5; 95% CI, 1.2-73) compared with those without CMM. These data suggest that among persons with hair colors traditionally associated with increased risk for melanoma, absence of both GSTM1 and GSTT1 may act to further elevate CMM risk...
Molecular epidemiology of the human glutathione S-transferase genotypes GSTM1 and GSTT1 in cancer susceptibilityT R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania, School of Medicine, Philadelphia 19104 6021, USA
Cancer Epidemiol Biomarkers Prev 6:733-43. 1997..However, these genotypes may be less suited for individual cancer risk assessment because of their relatively small contribution to the absolute risk of cancer...
Non-cancer endpoints in BRCA1/2 carriers after risk-reducing salpingo-oophorectomyJ V Cohen
Pennsylvania Hospital, Philadelphia, PA, USA
Fam Cancer 11:69-75. 2012..Despite the risk reduction RRSO offers, attention should be paid to non-cancer endpoints, particularly bone health, in this population...
Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genesA M Martin
Laboratory of Molecular Pathology, Department of Pathology, Pennsylvania Hospital, Philadelphia, PA, USA
Hum Hered 55:171-8. 2003..These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer...
Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancersJ Huang
Department of Biology, University of Pennsylvania, Philadelphia, PA, USA
J Med Genet 41:e120. 2004
Association of obesity with tumor characteristics and treatment failure of prostate cancer in African-American and European American menE Spangler
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
J Urol 178:1939-44; discussion 1945. 2007....
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 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...
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...
Increased transcriptional activity of the CYP3A4*1B promoter variantB Amirimani
Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6021, USA
Environ Mol Mutagen 42:299-305. 2003..Therefore, the phenotypic effects of the variant CYP3A4*1B may be associated with enhanced CYP3A4 expression due to reduced binding of a transcriptional repressor...
Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4C M Zeigler-Johnson
University of Pennsylvania, Philadelphia, PA, USA
Hum Hered 54:13-21. 2002..Ethnic differences in genotypes for genes associated with androgen metabolism including SRD5A2 and CYP3A4 also may exist. The aim of this study was to evaluate differences in these genotypes by ethnicity...
An intronic variant in PTEN is not associated with prostate cancer riskK L Nathanson
Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104-6021, USA
Cancer Epidemiol Biomarkers Prev 10:277-8. 2001
Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancerA Eisen
Department of Medicine, Biostatistics and Epidemiology, and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
J Clin Oncol 18:1980-95. 2000....
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...
Association of CYP3A4 genotype with treatment-related leukemiaC A Felix
Division of Oncology, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Proc Natl Acad Sci U S A 95:13176-81. 1998..The variant may decrease production of the epipodophyllotoxin catechol metabolite, which is the precursor of the potentially DNA-damaging quinone...
Association of prostate cancer family history with histopathological and clinical characteristics of prostate tumorsE Spangler
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Int J Cancer 113:471-4. 2005..14, 95%CI = 1.06-4.34). Our results suggest that a family history of prostate cancer may be associated with predictors of clinical outcome in prostate cancer cases unselected for a family history of prostate cancer...
Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failureE Loh
Cardiovascular Division, Department of Medicine, Biostatistics and Epidemiology, Hospital of the University of Pennsylvania, University of Pennsylvania, Philadelphia, PA 19104, USA
Circulation 99:1422-5. 1999..We hypothesized that inheritance of the mutant AMPD1 allele is associated with increased probability of survival without cardiac transplantation in patients with CHF...
BAG-1: a novel biomarker predicting long-term survival in early-stage breast cancerB C Turner
Department of Radiation Oncology, Thomas Jefferson University, Philadelphia, PA, USA
J Clin Oncol 19:992-1000. 2001..We performed a retrospective correlative analysis of BAG-1 protein expression in breast tumors derived from a cohort of early-stage breast cancer patients...
Prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriersT R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Drive, Philadelphia, PA 19104, USA
Eur J Cancer 38:S15-7. 2002
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%...
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...
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...
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...
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....
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...
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...
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....
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...
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...
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...
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...
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...
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...
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...
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....
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....
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...
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...
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....
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 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...
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...
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...
Differential expression of E-cadherin in lobular and ductal neoplasms of the breast and its biologic and diagnostic implicationsG Acs
Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, 6 Founders Pavilion, 3400 Spruce St, Philadelphia, PA 19104, USA
Am J Clin Pathol 115:85-98. 2001..In tumors with histologically equivocal features, immunohistochemical detection of E-cadherin expression can be a useful diagnostic tool for the differentiation of ductal and lobular carcinomas of the breast...
Localization of a hereditary neuroblastoma predisposition gene to 16p12-p13M J Weiss
Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
Med Pediatr Oncol 35:526-30. 2000..Hereditary predisposition to develop neuroblastoma segregates as an autosomal dominant Mendelian trait...
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...
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...
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...
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...
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...
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...
Group sequential methods and sample size savings in biomarker-disease association studiesR Aplenc
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Genetics 163:1215-9. 2003..In contrast, for GSTT1, which demonstrated a positive association, inappropriate termination occurred in only 6.6%. GSM may provide significant cost and sample savings in molecular epidemiology studies...
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)...
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...
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...
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25J E Pellegrino
Division of Neurology Research, Abramson Pediatric Research Center, Children s Hospital of Philadelphia, PA 19104, USA
Hum Genet 101:277-83. 1997..These results support genetic homogeneity within HNA and define a specific interval and a precise cytogenetic location in chromosome 17q25 for this disorder...
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...
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...
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...
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...
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
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...
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
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...
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...
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...
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...
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...
Inherited genetic markers and cancer outcomes: personalized medicine in the postgenome eraTimothy R Rebbeck
J Clin Oncol 24:1972-4. 2006
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...
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....
Research Grants
- Prophytactic surgery in carriers of BRCA 1/2 mutationsTimothy Rebbeck; Fiscal Year: 2007..These studies will motivate future studies of BRCA1/2-associated breast tumor biology, prevention, and treatment. ..
- Determinants of Disparity in Prostate Cancer OutcomesTimothy Rebbeck; Fiscal Year: 2007..abstract_text> ..
- Ethnic difference in prostate cancerTimothy Rebbeck; Fiscal Year: 2009....
- MOLECULAR EPIDEMIOLOGY OF PROSTATE CANCERTimothy Rebbeck; Fiscal Year: 2003..This information could then be used to more effectively apply prostate cancer prevention and control strategies. ..
- PROPHYLACTIC SURGERY IN CARRIERS OF BRCA1 AND BRCA2Timothy Rebbeck; Fiscal Year: 2004..This proposal will address that immediate and important clinical need. ..
- Pharmacogenetic Epidemiology of Birth Defects and CancerTimothy Rebbeck; Fiscal Year: 2004....
- Ethnic difference in prostate cancerTimothy Rebbeck; Fiscal Year: 2009....
