This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. ABSTRACT Certain genetic syndromes are known to predispose affected patients to cancer more than the general population. For some of these disorders, the genetic defect has been characterized in humans;in others, studies in yeast or animal models are providing early answers regarding the genetic basis for disease. There are still many rare inherited disorders that are far from being characterized at the genetic level. For these disorders, primary data needs to be gathered at the clinical level. Because they are rare disorders worldwide, accumulating affected patients and their relatives in order to study their genetic material becomes a difficult task. This study would allow the collection of samples from patients and their family members so that molecular and genetic studies can be conducted to better understand both the primary syndrome and the predisposition toward cancer development. HYPOTHESIS Studying rare cancer predisposition syndromes both at the clinical and molecular level will provide insight into the pathogenesis of cancer in the general population.
SPECIFIC AIMS 1. Collect and alaynze clinical samples from both patients affected by a familial cancer syndrome and their family members. Familial cancer syndromes include examples such as familial colon cancer, familial breast-ovarian cancer, ataxiatelangiectasia, Bloom's syndrome, xeroderma pigmentosa, and Rothmund-Thomson Syndrome (RTS). Samples would include bood, tissues (normal and tumor) and body fluids which would be made available to investigators for the purpose of conducting research that will help to define and characterize the underlying genetic defects which cause these inherited disorders and their propensity toward cancer. 2. Collect and analyze medical records from both patients affected by a familial cancer syndrome and their family members. Clinical information will allow genotype-phenotype analyses in combination with molecular studies.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000188-47
Application #
8356668
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2010-12-01
Project End
2011-11-30
Budget Start
2010-12-01
Budget End
2011-11-30
Support Year
47
Fiscal Year
2011
Total Cost
$1,583
Indirect Cost
Name
Baylor College of Medicine
Department
Pediatrics
Type
Schools of Medicine
DUNS #
051113330
City
Houston
State
TX
Country
United States
Zip Code
77030
Hunsaker, Sanita L; Garland, Beth H; Rofey, Dana et al. (2018) A Multisite 2-Year Follow Up of Psychopathology Prevalence, Predictors, and Correlates Among Adolescents Who Did or Did Not Undergo Weight Loss Surgery. J Adolesc Health 63:142-150
Lanzieri, Tatiana M; Chung, Winnie; Leung, Jessica et al. (2018) Hearing Trajectory in Children with Congenital Cytomegalovirus Infection. Otolaryngol Head Neck Surg 158:736-744
Bollard, Catherine M; Tripic, Tamara; Cruz, Conrad Russell et al. (2018) Tumor-Specific T-Cells Engineered to Overcome Tumor Immune Evasion Induce Clinical Responses in Patients With Relapsed Hodgkin Lymphoma. J Clin Oncol 36:1128-1139
Michalsky, Marc P; Inge, Thomas H; Jenkins, Todd M et al. (2018) Cardiovascular Risk Factors After Adolescent Bariatric Surgery. Pediatrics 141:
Lau, Chantal (2018) Breastfeeding Challenges and the Preterm Mother-Infant Dyad: A Conceptual Model. Breastfeed Med 13:8-17
Jenkins, Todd M; Boyce, Tawny W; Ralph Buncher, C et al. (2017) Accuracy of Self-Reported Weight Among Adolescent and Young Adults Following Bariatric Surgery. Obes Surg 27:1529-1532
Cao, Felicia; Lu, Linchao; Abrams, Steven A et al. (2017) Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. Hum Mol Genet 26:3046-3055
Wattacheril, Julia; Lavine, Joel E; Chalasani, Naga P et al. (2017) Genome-Wide Associations Related to Hepatic Histology in Nonalcoholic Fatty Liver Disease in Hispanic Boys. J Pediatr 190:100-107.e2
El-Hattab, Ayman W; Almannai, Mohammed; Scaglia, Fernando (2017) Arginine and citrulline for the treatment of MELAS syndrome. J Inborn Errors Metab Screen 5:
Lanzieri, Tatiana M; Chung, Winnie; Flores, Marily et al. (2017) Hearing Loss in Children With Asymptomatic Congenital Cytomegalovirus Infection. Pediatrics 139:

Showing the most recent 10 out of 459 publications