A rare tumor and an ethical dilemma in a family with a germline TP53 mutation

Cancer Genetics and Cytogenetics

Volumn 180, Issue 1, 2008, Pages 65-69

  Prochazkova, Kamila ^a   Foretova, Lenka ^b   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b MASARYK MEMORIAL CANCER INSTITUTE   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53;

ADULT; ANAMNESIS; ARTICLE; CANCER SCREENING; CANCER SUSCEPTIBILITY; CASE REPORT; CYSTOSARCOMA PHYLLOIDES; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GERM LINE; HUMAN; NEWBORN SCREENING; PRIORITY JOURNAL;

ADOLESCENT; ADULT; FEMALE; GENES, P53; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; LI-FRAUMENI SYNDROME; MALE; PEDIGREE; PHYLLODES TUMOR; PREGNANCY; PREGNANCY COMPLICATIONS, NEOPLASTIC;

PHYLLODES;

EID: 36549039085     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2007.09.015     Document Type: Article

References (28)

1. Li F.P., and Fraumeni Jr. J.F. Soft-tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome?. Ann Intern Med 71 (1969) 747-752
2. Nichols K.E., Malkin D., Garber J.E., Fraumeni Jr. J.F., and Li F.P. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 10 (2001) 83-87
3. Birch J.M., Alston R.D., McNally R.J., Evans D.G., Kelsey A.M., Harris M., Eden O.B., and Varley J.M. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20 (2001) 4621-4628
4. Hisada M., Garber J.E., Fung C.Y., Fraumeni Jr. J.F., and Li F.P. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 90 (1998) 606-611
5. Li F.P., Fraumeni Jr. J.F., Mulvihill J.J., Blattner W.A., Dreyfus M.G., Tucker M.A., and Miller R.W. A cancer family syndrome in twenty-four kindreds. Cancer Res 48 (1988) 5358-5362
6. Malkin D., Li F.P., Strong L.C., Fraumeni Jr. J.F., Nelson C.E., Kim D.H., Kassel J., Gryka M.A., Bischoff F.Z., Tainsky M.A., and Friend S.H. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. [Erratum in: Science 1993;259:878]. Science 250 (1990) 1233-1238
7. Birch J.M., Hartley A.L., Tricker K.J., Prosser J., Condie A., Kelsey A.M., Harris M., Jones P.H., Binchy A., Crowther D., Craft A.W., Eden O.B., Evans G.R., Thompson E., Mann J.R., Martin J., Mitchell E.L., and Santibáñez-Koref M.F. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54 (1994) 1298-1304
8. Chompret A., Abel A., Stoppa-Lyonnet D., Brugières L., Pagès S., Feunteun J., and Bonaïti-Pellié C. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38 (2001) 43-47
9. Eeles R.A. Germline mutations in the TP53 gene. Cancer Surv 25 (1995) 101-124
10. Chompret A., Brugières L., Ronsin M., Gardes M., Dessarps-Freichey F., Abel A., Hua D., Ligot L., Dondon M.G., Bressac-de Paillerets B., Frébourg T., Lemerle J., Bonaïti-Pellié C., and Feunteun J. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82 (2000) 1932-1937
11. Hwang S.J., Lozano G., Amos C.I., and Strong L.C. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet 72 (2003) 975-983
12. Le Bihan C., Moutou C., Brugières L., Feunteun J., and Bonaïti-Pellié C. ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol 12 (1995) 13-25
13. Sedlacek Z., Kodet R., Kriz V., Seemanova E., Vodvarka P., Wilgenbus P., Mares J., Poustka A., and Goetz P. Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. Br J Cancer 77 (1998) 1034-1039
14. Sedlacek Z., Kodet R., Poustka A., and Goetz P. A database of germline p53 mutations in cancer-prone families. Nucleic Acids Res 26 (1998) 214-215
15. Kleer C.G., Giordano T.J., Braun T., and Oberman H.A. Pathologic, immunohistochemical, and molecular features of benign and malignant phyllodes tumors of the breast. Mod Pathol 14 (2001) 185-190
16. Anagnostopoulos G., Sakorafas G.H., Grigoriadis K., and Kostopoulos P. Malignant fibrous histiocytoma of the liver: a case report and review of the literature. Mt Sinai J Med 72 (2005) 50-52
17. An J.K., and Oh K.K. Malignant fibrous histiocytoma of chest wall. Yonsei Med J 46 (2005) 177-180
18. Frébourg T., Abel A., Bonaïti-Pellié C., Brugières L., Berthet P., Bressac-de Paillerets B., Chevrier A., Chompret A., Cohen-Haguenauer O., Delattre O., Feingold J., Feunteun J., Frappaz D., Fricker J.P., Gesta P., Jonveaux P., Kalifa C., Lasset C., Leheup B., Limacher J.M., Longy M., Nogues C., Oppenheim D., Sommelet D., Soubrier F., Stoll C., Stoppa-Lyonnet D., and Tristant H. Li-Fraumeni syndrome: update, new data and guidelines for clinical management. [In French]. Bull Cancer 88 (2001) 581-587
19. Verlinsky Y., Rechitsky S., Verlinsky O., Xu K., Schattman G., Masciangelo C., Ginberg N., Strom C., Rosenwaks Z., and Kuliev A. Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reprod Biomed Online 2 (2001) 102-105
20. Avigad S., Peleg D., Barel D., Benyaminy H., Ben-Baruch N., Taub E., Shohat M., Goshen Y., Cohen I.J., Yaniv I., and Zaizov R. Prenatal diagnosis in Li-Fraumeni syndrome. J Pediatr Hematol Oncol 26 (2004) 541-545
21. Guran S., and Tunca Y. Prenatal diagnosis history of a Li-Fraumeni syndrome family. Cancer Genet Cytogenet 157 (2005) 191
22. Li F.P., Garber J.E., Friend S.H., Strong L.C., Patenaude A.F., Juengst E.T., Reilly P.R., Correa P., and Fraumeni Jr. J.F. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Natl Cancer Inst 84 (1992) 1156-1160
23. Trkova M., Hladikova M., Kasal P., Goetz P., and Sedlacek Z. Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?. J Hum Genet 47 (2002) 381-386
24. Brown B.W., Costello T.J., Hwang S.J., and Strong L.C. Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome. Hum Genet 118 (2005) 489-498
25. Malkin D. Predictive genetic testing for childhood cancer: taking the road less traveled by. J Pediatr Hematol Oncol 26 (2004) 546-548
26. American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21 (2003) 2397-2406
27. Campbell E., and Ross L.F. Parental attitudes and beliefs regarding the genetic testing of children. Community Genet 8 (2005) 94-102
28. Eng C., Hampel H., and de la Chapelle A. Genetic testing for cancer predisposition. Annu Rev Med 52 (2001) 371-400