The aims of this study are to : determine whether breast cancer as a second neoplasm in survivors of childhood cancer is related to a specific germline mutation in BRCA1 or BRCA2; determine whether potential biomarkers of cancer susceptibility are associated with an increased risk of a second malignanacy in survivors of childhood cancer; and determine whether specific patterns of familial cancers can identify those childhood cancer survivors at increased risk for second cancers. The cancers of interest include: a) those seen in the Li-Fraumeni syndrome and b) those reported to occur with increased incidence in those with germline mutations in the genes under study. We hypothesize that the incidence of germline mutations in BRCA1 and/or BRCA2 is increased in women with breast cancers that occur as a second malignancy; that germline mutations in ATM, GSTTI, and GSTM1 are associated with increased risk of SMN's; and that a positive family history of cancer is associated with increased risk of SMN's.

Project Start
1999-12-01
Project End
2001-02-28
Budget Start
Budget End
Support Year
36
Fiscal Year
2000
Total Cost
Indirect Cost
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Medina-Gomez, Carolina; Kemp, John P; Dimou, Niki L et al. (2017) Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. Nat Commun 8:121
Agopian, A J; Goldmuntz, Elizabeth; Hakonarson, Hakon et al. (2017) Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10:e001449
Ruan, Alexandra; Tobin, Nicole H; Mulligan, Kathleen et al. (2016) Brief Report: Macrophage Activation in HIV-Infected Adolescent Males Contributes to Differential Bone Loss by Sex: Adolescent Trials Network Study 021. J Acquir Immune Defic Syndr 72:372-5
Medoff-Cooper, Barbara; Irving, Sharon Y; Hanlon, Alexandra L et al. (2016) The Association among Feeding Mode, Growth, and Developmental Outcomes in Infants with Complex Congenital Heart Disease at 6 and 12 Months of Age. J Pediatr 169:154-9.e1
Ollberding, Nicholas J; Gilsanz, Vicente; Lappe, Joan M et al. (2015) Reproducibility and intermethod reliability of a calcium food frequency questionnaire for use in Hispanic, non-Hispanic Black, and non-Hispanic White youth. J Acad Nutr Diet 115:519-27.e2
Medina-Gómez, Carolina; Chesi, Alessandra; Heppe, Denise H M et al. (2015) BMD Loci Contribute to Ethnic and Developmental Differences in Skeletal Fragility across Populations: Assessment of Evolutionary Selection Pressures. Mol Biol Evol 32:2961-72
Avitabile, Catherine M; Goldberg, David J; Zemel, Babette S et al. (2015) Deficits in bone density and structure in children and young adults following Fontan palliation. Bone 77:12-6
Rutstein, Richard M; Samson, Pearl; Fenton, Terry et al. (2015) Long-term safety and efficacy of atazanavir-based therapy in HIV-infected infants, children and adolescents: the Pediatric AIDS Clinical Trials Group Protocol 1020A. Pediatr Infect Dis J 34:162-7
Trabulsi, Jillian C; Irving, S Y; Papas, M A et al. (2015) Total Energy Expenditure of Infants with Congenital Heart Disease Who Have Undergone Surgical Intervention. Pediatr Cardiol 36:1670-9
Lappe, Joan M; Watson, Patrice; Gilsanz, Vicente et al. (2015) The longitudinal effects of physical activity and dietary calcium on bone mass accrual across stages of pubertal development. J Bone Miner Res 30:156-64

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