Loss of heterozygosity associated with uniparental disomy in breast carcinoma

Modern Pathology

Volumn 15, Issue 12, 2002, Pages 1241-1250

  Murthy, Sabita K ^a   DiFrancesco, Lisa M ^a,b   Travis Ogilvie, R ^a,b   Demetrick, Douglas J ^a,b,c  

^a UNIVERSITY OF CALGARY   (Canada)

^b CALGARY LABORATORY SERVICES   (Canada)

^c HMRB   (Canada)

Author keywords

Breast cancer; FISH; Loss of heterozygosity; Microsatellite; Somatic recombination

Indexed keywords

CELL PROTEIN; PROTEIN P53; PROTEIN RB1; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BREAST CARCINOMA; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE ISOLATION; GENE LOCUS; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC STABILITY; HETEROZYGOSITY LOSS; HUMAN; MICROSATELLITE MARKER; MITOSIS; PRIORITY JOURNAL; PS3 GENE; RB1 GENE; SOMATIC CELL; TUMOR CELL; TUMOR SUPPRESSOR GENE; UNIPARENTAL DISOMY;

BREAST NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LOSS OF HETEROZYGOSITY; MICROSATELLITE REPEATS; RETINOBLASTOMA PROTEIN; TUMOR SUPPRESSOR PROTEIN P53; UNIPARENTAL DISOMY;

EID: 0036903315     PISSN: 08933952     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MP.0000032535.62750.D1     Document Type: Article

References (50)

1. Weinberg RA. Tumor suppressor genes. Science 1991;254: 1138-46.
2. Yokota J, Sugimura T. Multiple steps in carcinogenesis involving alterations of multiple tumor suppressor genes. FASEB J 1993;7:920-5.
3. Knudson AG Jr. Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68:820-3.
4. Knudson AG Jr. Genetics of human cancer. J Cell Physiol Suppl 1986;4:7-11.
5. Knudson AG Jr. Pediatric molecular oncology. Past as prologue to the future. Cancer 1993;71(10 Suppl):3320-4.
6. Stanbridge EJ. Human tumor suppressor genes. Annu Rev Genet 1990;24:615-57.
7. Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, et al. Oncogenic point mutations in the human retinoblastoma gene: Their application to genetic counseling. N Engl J Med 1989;321:1689-95.
8. Dunn JM, Phillips RA, Zhu X, Becker A, Gallie BL. Mutations in the RB1 gene and their effects on transcription. Mol Cell Biol 1989;9:4596-604.
9. Thiagalingam S, Laken S, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B, et al. Mechanisms underlying losses of heterozygosity in human colorectal cancers. Proc Natl Acad Sci U S A 2001;98:2698-702.
10. Zhu X, Dunn JM, Goddard AD, Squire JA, Becker A, Phillips RA, et al. Mechanisms of loss of heterozygosity in retinoblastoma. Cytogenet Cell Genet 1992;59:248-52.
11. de Nooij-van Dalen AG, van Buuren-van Seggelen VH, Lohman PH, Giphart-Gassler M. Chromosome loss with concomitant duplication and recombination both contribute most to loss of heterozygosity in vitro. Genes Chromosomes Cancer 1998;21:30-8.
12. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000;22:452-9.
13. Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 1983;305:779-84.
14. Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, et al. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: A post-fertilization event. Eur J Hum Genet 1993;1:19-29.
15. Grundy P, Wilson B, Telzerow P, Zhou W, Paterson MC. Uniparental disomy occurs infrequently in Wilms tumor patients. Am J Hum Genet 1994;54:282-9.
16. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991;351:665-7.
17. Kallioniemi A, Kallioniemi OP, Waldman FM, Chen LC, Yu LC, Fung YK, et al. Detection of retinoblastoma gene copy number in metaphase chromosomes and interphase nuclei by fluorescence in situ hybridization. Cytogenet Cell Genet 1992;60:190-3.
18. Matsumura K, Kallioniemi A, Kallioniemi O, Chen L, Smith HS, Pinkel D, et al. Deletion of chromosome 17p loci in breast cancer cells detected by fluorescence in situ hybridization. Cancer Res 1992;52:3474-7.
19. Chen LC, Matsumura K, Deng G, Kurisu W, Ljung BM, Lerman MI, et al. Deletion of two separate regions on chromosome 3p in breast cancers. Cancer Res 1994;54:3021-4.
20. Shearer PD, Valentine MB, Grundy P, DeCou JM, Banavali SD, Komuro H, et al. Hemizygous deletions of chromosome band 16q24 in Wilms tumor: Detection by fluorescence in situ hybridization. Cancer Genet Cytogenet 1999;115:100-5.
21. Emmert-Buck MR, Bonner RF, Smith PD, Chuaqui RF, Zhuang Z, Goldstein SR, et al. Laser capture microdissection. Science 1996;274:998-1001.
22. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The.-94 Genethon human genetic linkage map. Nat Genet 1994;1993:7(2 Spec No):246-339.
23. Tsukamoto K, Ito N, Yoshimoto M, Iwase T, Tada T, Kasumi F, et al. Two distinct commonly deleted regions on chromosome 13q suggest involvement of BRCA2 and retinoblastoma genes in sporadic breast carcinomas. Cancer 1996;78:1929-34.
24. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57.
25. Demetrick D. The use of archival frozen tumour tissue specimens for fluorescence in situ hybridization. Mod Pathol 1996;9:133-6.
26. DiFrancesco LM, Murthy SK, Luider J, Demetrick DJ. Laser capture microdissection-guided fluorescence in situ hybridization and flow cytometric cell cycle analysis of purified nuclei from paraffin sections. Mod Pathol 2000;13:705-11.
27. Demetrick DJ. Fluorescence in situ hybridization and human cell cycle genes. In: Pagano M, editor. Cell Cycle: Materials and Methods. 1st Ed. Zurich, Switzerland: Springer Verlag Press; 1995. p. 29-45.
28. Smith FB, Zappi ME. Relationships between image cytometric DNA index, proliferation fraction and multiploidy and conventional nuclear grade in breast carcinoma. Mod Pathol 1993;6:606-11.
29. Ioakim-Liossi A, Karakitsos P, Aroni K, Markopoulos C, Delivelioti K, Gogas J, et al. DNA ploidy and pS2 protein expression in breast cancer. Cytopathology 1997;8:171-6.
30. Wong SW, Rangan AM, Bilous AM, Boyages J, Gebski V, Benson EM. The value of S-phase and DNA ploidy analysis as prognostic markers for node-negative breast cancer in the Australian setting. Pathology 1999;31:90-4.
31. Angelopoulou K, Diamandis EP. Identification of deletions and insertions in the p53 gene using multiplex PCR and high-resolution fragment analysis: Application to breast and ovarian tumors. J Clin Lab Anal 1998;12:250-6.
32. Eyfjord JE, Thorlacius S, Steinarsdottir M, Valgardsdottir R, Ogmundsdottir HM, Anamthawat-Jonsson K. p53 abnormalities and genomic instability in primary human breast carcinomas. Cancer Res 1995;55:646-51.
33. Monti P, Campomenosi P, Ciribilli Y, Iannone R, Inga A, Abbondandolo A, et al. Tumour p53 mutations exhibit promoter selective dominance over wild type p53. Oncogene 2002;21:1641-8.
34. Boige V, Laurent-Puig P, Fouchet P, Flejou JF, Monges G, Bedossa P, et al. Concerted nonsyntenic allelic losses in hyperploid hepatocellular carcinoma as determined by a high-resolution allelotype. Cancer Res 1997;57:1986-90.
35. Kerangueven F, Noguchi T, Coulier F, Allione F, Wargniez V, Simony-Lafontaine J, et al. Genome-wide search for loss of heterozygosity shows extensive genetic diversity of human breast carcinomas. Cancer Res 1997;57:5469-74.
36. Kerangueven F, Eisinger F, Noguchi T, Allione F, Wargniez V, Eng C, et al. Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions. Oncogene 1997;14:339-47.
37. Klinedinst DK, Drinkwater NR. Reduction to homozygosity is the predominant spontaneous mutational event in cultured human lymphoblastoid cells. Mutat Res 1991;250:365-74.
38. Dalen DNV. Chromosome loss with concomitant duplication and recombination both contribute most to loss of heterozygosity in vitro. Genes Chromosomes Cancer 1998; 21:30-8.
39. Engel E. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980;6:137-43.
40. Dutly F, Baumer A, Kayserili H, Yuksel-Apak M, Zerova T, Hebisch G, et al. Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 1998;79:347-53.
41. Chao LY, Huff V, Tomlinson G, Riccardi VM, Strong LC, Saunders GF. Genetic mosaicism in normal tissues of Wilms' tumour patients. Nat Genet 1993;3:127-31.
42. Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Isochromosomes 12p and 9p: Parental origin and possible mechanisms of formation. Eur J Hum Genet 1998;6:140-4.
43. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991;351:665-7.
44. Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol 1999;41(2 Pt 1):143-64.
45. White VA, McNeil BK, Thiberville L, Horsman DE. Acquired homozygosity (isodisomy) of chromosome 3 during clonal evolution of a uveal melanoma: Association with morphologic heterogeneity. Genes Chromosomes Cancer 1996;15: 138-43.
46. Engel E. Uniparental disomies in unselected populations. Am J Hum Genet 1998;63:962-6.
47. Hebert J, Cayuela JM, Berkeley J, Sigaux F. Candidate tumorsuppressor genes MTS1 (p16INK4A) and MTS2 (p15INK4B) display frequent homozygous deletions in primary cells from T- but not from B-cell lineage acute lymphoblastic leukemias. Blood 1994;84:4038-44.
48. Jen J, Harper JW, Bigner SH, Bigner DD, Papadopoulos N, Markowitz S, et al. Deletion of p16 and p15 genes in brain tumors. Cancer Res 1994;54:6353-8.
49. Okamoto A, Demetrick DJ, Spillare EA, Hagiwara K, Hussain SP, Bennett WP, et al. Mutations and altered expression of p16INK4 in human cancer. Proc Natl Acad Sci U S A 1994; 91:11045-9.
50. Sherr CJ. The INK4a/ARF network in tumour suppression. Nat Rev Mol Cell Biol 2001;2:731-7.