Balanced t(11;15)(q23;q15) in a TP53+/+ breast cancer patient from a Li-Fraumeni syndrome family

Cancer Genetics and Cytogenetics

Volumn 168, Issue 1, 2006, Pages 50-58

  Sherif, Zaki A ^a   Danielsen, Mark ^a  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER CELL CULTURE; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 15; CONTROLLED STUDY; FAMILIAL CANCER; FIBROBLAST CULTURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; NEUROBLASTOMA; PRIORITY JOURNAL; SKIN FIBROBLAST; SOFT TISSUE SARCOMA; WILD TYPE; ADULT; BREAST TUMOR; CASE REPORT; CELL LINE; CHROMOSOME 11; CHROMOSOME 15; CHROMOSOME BANDING PATTERN; FEMALE; FIBROBLAST; GENE TRANSLOCATION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; KARYOTYPING; MALE; MUTATION; TUMOR SUPPRESSOR GENE;

ADULT; BREAST NEOPLASMS; CELL LINE; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; FIBROBLASTS; GENES, P53; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LI-FRAUMENI SYNDROME; MALE; MUTATION; NEUROBLASTOMA; TRANSLOCATION, GENETIC;

EID: 33746404837     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2005.12.009     Document Type: Article

References (39)

1. Le Dran H. Memoire avec un precis de plusieurs observations sur le cancer. [In French]. Mem Acad R Chir 3 (1757) 1-54
2. Eisinger F., Sobol H., Serin D., and Whorton J.C. Hereditary breast cancer, circa 1750. [Letter]. Lancet 351 (1998) 1366
3. Pharoah P.D., Day N.E., Duffy S., Easton D.F., and Ponder B.A. Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer 71 (1997) 800-809
4. Ford D., Easton D.F., Stratton M., Narod S., Goldgar D., Devilee P., Bishop D.T., Weber B., Lenoir G., Chang-Claude J., Sobol H., Teare M.D., Struewing J., Arason A., Scherneck S., Peto J., Rebbeck T.R., Tonin P., Neuhausen S., Barkardottir R., Eyfjord J., Lynch H., Ponder B.A., Gayther S.A., Zelada-Hedman M., et al. The Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62 (1998) 676-689
5. Phelan C.M., Rebbeck T.R., Weber B.L., Devilee P., Ruttledge M.H., Lynch H.T., Lenoir G.M., Stratton M.R., Easton D.F., Ponder B.A., Cannon-Albright L., Larsson C., Goldgar D.E., and Narod S.A. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet 12 (1996) 309-311
6. Hakansson S., Johannsson O., Johansson U., Sellberg G., Loman N., Gerdes A.M., Holmberg E., Dahl N., Pandis N., Kristoffersson U., Olsson H., and Borg A. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet 60 (1997) 1068-1078
7. Vehmanen P., Friedman L.S., Eerola H., McClure M., Ward B., Sarantaus L., Kainu T., Syrjakoski K., Pyrhonen S., Kallioniemi O.P., Muhonen T., Luce M., Frank T.S., and Nevanlinna H. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet 6 (1997) 2309-2315
8. Cantor S., Drapkin R., Zhang F., Lin Y., Han J., Pamidi S., and Livingston D.M. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci U S A 101 (2004) 2357-2362
9. Chen J.J., Silver D., Cantor S., Livingston D.M., and Scully R. BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathway. Cancer Res 59 (1999) 1752s-1756s
10. Baumann P., and West S.C. Role of the human RAD51 protein in homologous recombination and double-stranded-break repair. Trends Biochem Sci 23 (1998) 247-251
11. Levy-Lahad E., Lahad A., Eisenberg S., Dagan E., Paperna T., Kasinetz L., Catane R., Kaufman B., Beller U., Renbaum P., and Gershoni-Baruch R. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc Natl Acad Sci U S A 98 (2001) 3232-3236
12. Karppinen S.M., Heikkinen K., Rapakko K., and Winqvist R. Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. J Med Genet 41 (2004) e114
13. Liaw D., Marsh D.J., Li J., Dahia P.L., Wang S.I., Zheng Z., Bose S., Call K.M., Tsou H.C., Peacocke M., Eng C., and Parsons R. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16 (1997) 64-67
14. Jenne D.E., Reimann H., Nezu J., Friedel W., Loff S., Jeschke R., Muller O., Back W., and Zimmer M. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18 (1998) 38-43
15. 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
16. 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., et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250 (1990) 1233-1238
17. Srivastava S., Zou Z.Q., Pirollo K., Blattner W., and Chang E.H. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348 (1990) 747-749
18. Bachinski L.L., Olufemi S.E., Zhou X., Wu C.C., Yip L., Shete S., Lozano G., Amos C.I., Strong L.C., and Krahe R. Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Res 65 (2005) 427-431
19. Lidereau R., and Soussi T. Absence of p53 germ-line mutations in bilateral breast cancer patients. Hum Genet 89 (1992) 250-252
20. Blattner W.A., McGuire D.B., Mulvihill J.J., Lampkin B.C., Hananian J., and Fraumeni J.F. Genealogy of cancer in a family. JAMA 241 (1979) 259-261
21. Casey G., Lopez M.E., Ramos J.C., Plummer S.J., Arboleda M.J., Shaughnessy M., Karlan B., and Slamon D.J. DNA sequence analysis of exons 2 through 11 and immunohistochemical staining are required to detect all known p53 alterations in human malignancies. Oncogene 13 (1996) 1971-1981
22. Priest J. General cell culture principles in fibroblast culture. In: Barch M.J., Knutsen T., and Spurbeck J.L. (Eds). The AGT cytogenetics laboratory manual. 3rd ed. (1997), Lippincott-Raven, Philadelphia 187-197
23. Gustashaw K.M. Chromosome stains. In: Barch M.J., Knutsen T., and Spurbeck J.L. (Eds). The AGT cytogenetics laboratory manual. 3rd ed. (1997), Lippincott-Raven, Philadelphia 278
24. Masuno M., Imaizumi K., Nishimura G., Nakamura M., Saito I., Akagi K., and Kuroki Y. Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2). J Med Genet 32 (1995) 894-895
25. Youings S., Ellis K., Ennis S., Barber J., and Jacobs P. A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. Am J Med Genet A 126 (2004) 46-60
26. Zackai E.H., and Emanuel B.S. Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 7 (1980) 507-521
27. Lindblom A., Sandelin K., Iselius L., Dumanski J., White I., Nordenskjold M., and Larsson C. Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am J Hum Genet 54 (1994) 871-876
28. Kurahashi H., and Emanuel B.S. Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum Mol Genet 10 (2001) 2605-2617
29. Martin E.S., Cesari R., Pentimalli F., Yoder K., Fishel R., Himelstein A.L., Martin S.E., Godwin A.K., Negrini M., and Croce C.M. The BCSC-1 locus at chromosome 11q23-q24 is a candidate tumor suppressor gene. Proc Natl Acad Sci U S A 100 (2003) 11517-11522
30. Ono R., Nosaka T., and Hayashi Y. Roles of a trithorax group gene, MLL, in hematopoiesis. Int J Hematol 81 (2005) 288-293
31. Diaz M.O., Le Beau M.M., Pitha P., and Rowley J.D. Interferon and c-ets-1 genes in the translocation (9;11)(p22;q23) in human acute monocytic leukemia. Science 231 (1986) 265-267
32. Sacchi N., Watson D.K., Guerts van Kessel A.H., Hagemeijer A., Kersey J., Drabkin H.D., Patterson D., and Papas T.S. Hu-ets-1 and Hu-ets-2 genes are transposed in acute leukemias with (4;11) and (8;21) translocations. Science 231 (1986) 379-382
33. Hayette S., Tigaud I., Vanier A., Martel S., Corbo L., Charrin C., Beillard E., Deleage G., Magaud J.P., and Rimokh R. AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14). Oncogene 19 (2000) 4446-4450
34. Chinwalla V., Chien A., Odero M., Neilly M.B., Zeleznik-Le N.J., and Rowley J.D. A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. Oncogene 22 (2003) 1400-1410
35. Hall J. The ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants. Cancer Lett 227 (2005) 105-114
36. Schoch C., Schnittger S., Klaus M., Kern W., Hiddemann W., and Haferlach T. AML with 11q23/MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases. Blood 102 (2003) 2395-2402
37. Scully R., Xie A., and Nagaraju G. Molecular functions of BRCA1 in the DNA damage response. Cancer Biol Ther 3 (2004) 521-527
38. Kato M., Yano K., Matsuo F., Saito H., Katagiri T., Kurumizaka H., Yoshimoto M., Kasumi F., Akiyama F., Sakamoto G., Nagawa H., Nakamura Y., and Miki Y. Identification of Rad51 alteration in patients with bilateral breast cancer. J Hum Genet 45 (2000) 133-137
39. Wang Z.J., Churchman M., Campbell I.G., Xu W.H., Yan Z.Y., McCluggage W.G., Foulkes W.D., and Tomlinson I.P. Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours. Br J Cancer 80 (1999) 70-72