The data and observations obtained from our research participants have contributed to many significant findings in the field of LFS, namely:
Germline mutations in p53 gene cause LFS
Contributed data to the original finding that mutations in the p53 gene are responsible for causing LFS in the first five of five families studied.
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, et al. Science. 30;250(4985):1233-8. Erratum in: Science. 12;259(5097):878. PubMed PMID:1978757
Characterized cancer risk for male and female carriers of TP53 germline mutations.
Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Hwang SJ. Lozano G. Amos CL. Strong LC. Am J Hum Genet. 2003 Apr;72(4):975-83. PubMed PMID: 12610779; PubMed Central PMCID:PMC1180359
Genetic risk modifiers
PIN3 polymorphism in TP53 gene contribute to sex-specific cancer risk in LFS families.
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. Wu CC, Krahe R, Lozano G, Zhang B, Wilson CD, Jo EJ, Amos CI, Shete S, Strong
LC. Hum Genet. 129(6):663-73. PubMed PMID:21305319
SNP309 in MDM2 accelerates tumor growth in LFS families.
Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers. Fang S, Krahe R, Bachinski LL, Zhang B, Amos CI, Strong LC. Hum Genet 130(6):789-94. PubMed PMID: 21688173
Psychosocial and ethical implications of living with LFS or being at risk for p53 mutations
Developed an educational tool (DVD) for LFS families.
Evaluation of a decision aid for families considering p53 genetic counseling and testing. Peterson SK, Pentz RD, Blanco AM, Ward PA, Watts BG, Marani SK, James LC, Strong LC. Genet Med. 8(4):226-33. PubMed PMID: 16617243; PubMed Central PMCID: PMC4145599
Provided guidance to addressing important issues during the genetic counseling and testing process for people considering at risk of p53 gene mutations by exploring psychosocial functioning and perceived risk in these families.
Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome. Peterson SK, Pentz RD, Marani SK, Ward PA, Blanco AM, LaRue D, Vogel K, Solomon T, Strong LC. Psychooncology. 17(8):783-9. PubMed PMID: 18688785
Identify molecular ‘signatures’ of tumors from people with LFS
Identified a relationship between HER2 expression in invasive breast cancer and the probability of finding a germline p53 mutation in young women with breast cancer.
Early onset HER2-positive breast cancer is associated with germline TP53 mutations. Melhem-Bertrandt A, Bojadzieva J, Ready KJ, Obeid E, Liu DD, Gutierrez-Barrera AM, Litton JK, Olopade OI, Hortobagyi GN, Strong LC, Arun BK. Cancer. 15;118(4):908-13. Erratum in: Cancer. 1;118(9):2561. PubMed PMID: 21761402; PubMed Central PMCID:PMC3527897
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