7 results on '"Snyder, Carrie"'
Search Results
2. Effect of Oophorectomy on Survival After Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.
- Author
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Metcalfe K, Lynch HT, Foulkes WD, Tung N, Kim-Sing C, Olopade OI, Eisen A, Rosen B, Snyder C, Gershman S, Sun P, and Narod SA
- Subjects
- Adult, Aged, Breast Neoplasms mortality, Breast Neoplasms pathology, Canada, Chi-Square Distribution, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Humans, Middle Aged, Ovarian Neoplasms genetics, Ovarian Neoplasms mortality, Ovarian Neoplasms pathology, Phenotype, Proportional Hazards Models, Retrospective Studies, Risk Assessment, Risk Factors, Time Factors, Treatment Outcome, United States, Young Adult, BRCA1 Protein genetics, BRCA2 Protein genetics, Biomarkers, Tumor genetics, Breast Neoplasms genetics, Breast Neoplasms therapy, Germ-Line Mutation, Ovarian Neoplasms prevention & control, Ovariectomy adverse effects, Ovariectomy mortality
- Abstract
Importance: Women who carry a germline mutation in either the BRCA1 or BRCA2 gene face a lifetime risk of breast cancer of up to 70%, and once they receive a diagnosis of breast cancer, they face high risks of both second primary breast and ovarian cancers. Preventive bilateral salpingo-oophorectomy is recommended to women with a BRCA mutation at age 35 years or thereafter to prevent breast and ovarian cancer, but it is unclear whether oophorectomy has an impact on survival in women with BRCA-associated breast cancer., Objective: To estimate the impact of oophorectomy on survival in women with breast cancer with a BRCA1 or BRCA2 mutation., Design, Setting, and Participants: Retrospective analysis of patients selected by pedigree review of families who received counseling at 1 of 12 participating clinical genetics centers. Patients were 676 women with stage I or II breast cancer and a BRCA1 or BRCA2 mutation who were observed for up to 20 years after receiving a diagnosis between 1975 and 2008. Survival experience was compared for women who did and who did not undergo oophorectomy., Main Outcomes and Measures: In all analyses, the primary end point was death due to breast cancer., Results: Of the 676 women, 345 underwent oophorectomy after the diagnosis of breast cancer and 331 retained both ovaries. The 20-year survival for the entire patient cohort was 77.4%. The adjusted hazard ratio for death attributed to breast cancer in women who underwent oophorectomy was 0.38 (95% CI, 0.19-0.77; P = .007) for BRCA1 carriers and 0.57 (95% CI, 0.23-1.43; P = .23) for BRCA2 carriers. The hazard ratio for breast cancer-specific mortality was 0.76 (95% CI, 0.32-1.78; P = .53) for women with estrogen receptor-positive breast cancer and 0.07 (95% CI, 0.01-0.51; P = .009) for women with estrogen receptor-negative breast cancer., Conclusions and Relevance: Oophorectomy is associated with a decrease in mortality in women with breast cancer and a BRCA1 mutation. Women with estrogen receptor-negative breast cancer and a BRCA1 mutation should undergo oophorectomy shortly after diagnosis.
- Published
- 2015
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3. PACES: a Physical Activity Campus Environmental Supports Audit on university campuses.
- Author
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Horacek TM, White AA, Byrd-Bredbenner C, Reznar MM, Olfert MD, Morrell JS, Koenings MM, Brown ON, Shelnutt KP, Kattelmann KK, Greene GW, Colby SE, and Thompson-Snyder CA
- Subjects
- Humans, Obesity prevention & control, Risk Reduction Behavior, United States, Environment Design, Exercise, Organizational Policy, Recreation, Surveys and Questionnaires, Universities
- Abstract
Purpose: This study evaluated the policy and built and recreation environmental supports for physical activity on 13 university campuses., Design: Environmental audit survey., Setting: Thirteen U.S. universities, 2009. Subjects. University policies, recreation programs and facilities, and at least five additional buildings per campus., Measures: The Physical Activity Campus Environmental Supports Audit was developed for this study., Analysis: Analysis of variance with post hoc Tukey's B and χ(2) assessed differences by institution and building type., Results: The mean obesogenic policy score was significantly lower than the desired score, ≥7 (p = .002), with only one campus scoring 10. The mean built environment audit score (5.4 ± 1.7) was low, with significant differences between institutions (p < .001) and only three campuses scoring above the desired score, ≥7. Although generally stairwells were clean and well lighted, there was a lack of signage to encourage stair use (p < .001). Overall, recreation programs (7.1 ± .7) and facilities (7.1 ± 1.2) scored well, but amenities scores were lower for satellite (2.8 ± 1.6) versus main (4.1 ± 1.8) recreation facilities (p = .04)., Conclusion: On these 13 university campuses, recreation programs and facilities were supportive of healthful lifestyles for obesity prevention, but policies and the built environment were not. This physical activity environmental audit survey requires testing in a wider sample of postsecondary institutions to corroborate its utility and provide evidence to support initiatives to improve campus environments for physical activity.
- Published
- 2014
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4. Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis.
- Author
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Metcalfe K, Gershman S, Ghadirian P, Lynch HT, Snyder C, Tung N, Kim-Sing C, Eisen A, Foulkes WD, Rosen B, Sun P, and Narod SA
- Subjects
- Adult, BRCA1 Protein metabolism, BRCA2 Protein metabolism, Breast Neoplasms genetics, Breast Neoplasms mortality, Canada epidemiology, Female, Humans, Mastectomy mortality, Middle Aged, Neoplasm Staging, Retrospective Studies, Survival Rate trends, United States epidemiology, BRCA1 Protein genetics, BRCA2 Protein genetics, Breast Neoplasms surgery, DNA, Neoplasm genetics, Forecasting, Mastectomy methods, Mutation
- Abstract
Objective: To compare the survival rates of women with BRCA associated breast cancer who did and did not undergo mastectomy of the contralateral breast., Design: Retrospective analysis., Setting: 12 cancer genetics clinics., Participants: 390 women with a family history of stage I or II breast cancer who were carriers of BRCA1 and BRCA2 mutations and initially treated with unilateral or bilateral mastectomy. 181 patients had mastectomy of the contralateral breast. Patients were followed for up to 20 years from diagnosis., Main Outcome Measure: Death from breast cancer., Results: 79 women died of breast cancer in the follow-up period (18 in the bilateral mastectomy group and 61 in the unilateral mastectomy group). The median follow-up time was 14.3 years (range 0.1-20.0 years). At 20 years the survival rate for women who had mastectomy of the contralateral breast was 88% (95% confidence interval 83% to 93%) and for those who did not was 66% (59% to 73%). In a multivariable analysis, controlling for age at diagnosis, year of diagnosis, treatment, and other prognostic features, contralateral mastectomy was associated with a 48% reduction in death from breast cancer (hazard ratio 0.52, 95% confidence interval 0.29 to 0.93; P=0.03). In a propensity score adjusted analysis of 79 matched pairs, the association was not significant (0.60, 0.34 to 1.06; P=0.08). Based on these results, we predict that of 100 women treated with contralateral mastectomy, 87 will be alive at 20 years compared with 66 of 100 women treated with unilateral mastectomy., Conclusions: This study suggests that women who are positive for BRCA mutations and who are treated for stage I or II breast cancer with bilateral mastectomy are less likely to die from breast cancer than women who are treated with unilateral mastectomy. Given the small number of events in this cohort, further research is required to confirm these findings.
- Published
- 2014
- Full Text
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5. Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
- Author
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Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, and Watson P
- Subjects
- Adult, Aged, DNA Repair Enzymes genetics, Female, Follow-Up Studies, Genes, BRCA1, Genes, BRCA2, Genital Neoplasms, Female classification, Heterozygote, Humans, Male, Middle Aged, Mutation genetics, Pedigree, Phenotype, Prognosis, United States, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Genetic Predisposition to Disease, Genital Neoplasms, Female genetics, Peritoneal Neoplasms genetics, Registries statistics & numerical data
- Abstract
To determine the validity of observations suggesting a significant dichotomy of gynecologic cancers determined by linkage to specific genetic defects associated with two major autosomal dominant hereditary cancer syndromes; the Creighton University Hereditary Cancer Registry was searched for female carriers of germ line mutations in BRCA1 and BRCA2, associated with the Hereditary Breast Ovarian Cancer syndrome, and in the mismatch repair (MMR) genes MLH1, MSH2 and MSH6, associated with Lynch syndrome, who were registered with invasive uterine, ovarian, fallopian tube or peritoneal cancers between January 1, 1959 and December 31, 2010. From 217 such cases, a total of 174 subjects, consisting of 95 BRCA1 and BRCA2 mutation carriers and 79 carriers of mutations in MMR genes, were identified who had current signed Health Insurance Portability and Accountability Act forms and complete primary diagnostic pathology reports and clinical records. Data meticulously extracted from these cases were categorized and statistically analyzed. There were highly significant differences between carriers of BRCA1 and BRCA2 mutations and carriers of MMR gene mutations in the proportion of serous carcinomas compared with endometrioid carcinomas of the uterus, including cervix and endometium (p < 0.002), ovaries (p < 0.001) and overall, including fallopian tube and peritoneum cancers (p < 0.001). Endometrioid carcinoma was found in one and transitional carcinoma in another of the 14 BRCA1 mutation carriers with fallopian tube cancer, and endometrioid carcinoma was found in two of four MMR gene mutation carriers with fallopian tube cancers. All other fallopian tube cancers were serous carcinomas. Seven BRCA1 and one BRCA2 mutation carriers were diagnosed with primary peritoneal serous carcinoma; no peritoneal carcinomas were registered in MMR gene mutation carriers. Nine of 14 gynecologic cancers with associated endometriosis in mutation carriers were endometrioid or endometrioid mixed carcinomas compared with just three of other histologic types. Primary breast cancers, that characterize the HBOC syndrome, were much more frequent in BRCA1 and BRCA2 mutation carriers; while multiple gynecologic cancers and associated colorectal and urinary tract cancers, which are features of Lynch syndrome, were more common in MMR gene mutation carriers. Both serous and endometrioid carcinomas were diagnosed in MMR gene mutation carriers at significantly younger ages than in BRCA1 and BRCA2 mutation carriers (p < 0.0006). These findings confirm a clear dichotomy of uterine, ovarian and fallopian tube cancers associated with inheritance of mutations in BRCA1 and BRCA2 contrasted with inheritance of MMR gene mutations. This opens possibilities for new approaches to molecular genetic research into carcinogenic pathways and raises important new considerations regarding counseling, screening, prophylaxis and treatment of mutation carriers.
- Published
- 2013
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6. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
- Author
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Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE, Bove B, Godwin AK, Stoppa-Lyonnet D, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G, Offit K, and Simard J
- Subjects
- Adult, Aged, Breast Neoplasms epidemiology, Breast Neoplasms metabolism, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Immunoenzyme Techniques, Middle Aged, Mutation genetics, Ovarian Neoplasms epidemiology, Ovarian Neoplasms metabolism, Polymorphism, Single Nucleotide genetics, Prognosis, Risk Factors, United States epidemiology, BRCA1 Protein genetics, BRCA2 Protein genetics, Breast Neoplasms genetics, Chromosomes, Human, Pair 19 genetics, DNA-Binding Proteins genetics, Ovarian Neoplasms genetics, Receptors, Estrogen metabolism, Transcription Factors genetics
- Abstract
Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)., Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined., Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10(-3))., Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers., Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers., (©2012 AACR.)
- Published
- 2012
- Full Text
- View/download PDF
7. The CYP1A2 genotype modifies the association between coffee consumption and breast cancer risk among BRCA1 mutation carriers.
- Author
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Kotsopoulos J, Ghadirian P, El-Sohemy A, Lynch HT, Snyder C, Daly M, Domchek S, Randall S, Karlan B, Zhang P, Zhang S, Sun P, and Narod SA
- Subjects
- Adult, Breast Neoplasms epidemiology, Caffeine metabolism, Canada epidemiology, Case-Control Studies, Confidence Intervals, Cytochrome P-450 CYP1A2 metabolism, Female, Genotype, Humans, Middle Aged, Odds Ratio, Polymerase Chain Reaction, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Registries, Risk Factors, Surveys and Questionnaires, United States epidemiology, Breast Neoplasms prevention & control, Caffeine administration & dosage, Coffee, Cytochrome P-450 CYP1A2 genetics, Genes, BRCA1
- Abstract
We have recently reported that, among BRCA1 mutation carriers, the consumption of caffeinated coffee was associated with a significant reduction in breast cancer risk. Because the metabolism of caffeine is primarily by CYP1A2, we examined whether or not the CYP1A2 genotype modifies the association between a history of coffee consumption and the risk of breast cancer. A common A to C polymorphism in the CYP1A2 gene is associated with decreased enzyme inducibility and impaired caffeine metabolism. Information regarding coffee consumption habits and the CYP1A2 genotype was available for 411 BRCA1 mutation carriers (170 cases and 241 controls). We estimated the odds ratios (ORs) and 95% confidence intervals (95% CIs) for breast cancer associated with the CYP1A2 genotype and a history of coffee consumption before age 35, adjusting for potential confounders. The CYP1A2 genotype did not affect breast cancer risk. Among women with at least one variant C allele (AC or CC), those who consumed coffee had a 64% reduction in breast cancer risk, compared with women who never consumed coffee (OR, 0.36; 95% CI, 0.18-0.73). A significant protective effect of coffee consumption was not observed among women with the CYP1A2 AA genotype (OR, 0.93; 95% CI, 0.49-1.77). Similar results were obtained when the analysis was restricted to caffeinated coffee. This study suggests that caffeine protects against breast cancer in women with a BRCA1 mutation and illustrates the importance of integrating individual genetic variability when assessing diet-disease associations.
- Published
- 2007
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