Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas

International Journal of Cancer

Volumn 133, Issue 12, 2013, Pages 2834-2842

  Pécuchet, Nicolas ^a,b   Popova, Tatiana ^a,b   Manié, Elodie ^a,b   Lucchesi, Carlo ^a,b   Battistella, Aude ^a,b   Vincent Salomon, Anne ^a,b   Caux Moncoutier, Virginie ^a   Bollet, Marc ^a   Sigal Zafrani, Brigitte ^a   Sastre Garau, Xavier ^a   Stoppa Lyonnet, Dominique ^a,b,c   Stern, Marc Henri ^a,b  

^a INSTITUT CURIE   (France)

^b INSTITUT CURIE   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

BRCA2; breast cancer; oncogenetics; SNP array

Indexed keywords

BRCA2 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR;

ADULT; ARTICLE; CANCER GRADING; CHROMOSOME 13Q; CHROMOSOME 14Q; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DOSAGE; GENE INACTIVATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC GAIN; GENETIC MARKER; GENETIC SCREENING; GENETIC VARIABILITY; GENOMIC INSTABILITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; INTRADUCTAL CARCINOMA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

BRCA2; BREAST CANCER; ONCOGENETICS; SNP-ARRAY;

BREAST NEOPLASMS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENES, BRCA2; HUMANS; LOSS OF HETEROZYGOSITY; MIDDLE AGED; MUTATION; PLOIDIES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84885608775     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28315     Document Type: Article

References (31)

1. Jemal A, Bray F, Center MM, et al. Global cancer statistics. CA Cancer J Clin 2011; 61: 69-90.
2. Chen S, Parmigiani G,. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007; 25: 1329-33.
3. Lord CJ, Ashworth A,. The DNA damage response and cancer therapy. Nature 2012; 481: 287-94.
4. Maxwell KN, Domchek SM,. Cancer treatment according to BRCA1 and BRCA2 mutations. Nat Rev Clin Oncol 2012; 9: 520-8.
5. Daly MB, Axilbund JE, Buys S, et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Cancer Netw 2010; 8: 562-94.
6. Balmana J, Diez O, Rubio IT, et al. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2011; 22: vi31-4.
7. Moller P, Hagen AI, Apold J, et al. Genetic epidemiology of BRCA mutations-family history detects less than 50% of the mutation carriers. Eur J Cancer 2007; 43: 1713-7.
8. Koumpis C, Dimitrakakis C, Antsaklis A, et al. Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece. Hered Cancer Clin Pract 2011; 9: 10.
9. Mavaddat N, Rebbeck TR, Lakhani SR, et al. Incorporating tumour pathology information into breast cancer risk prediction algorithms. Breast Cancer Res 2010; 12: R28.
10. Mavaddat N, Barrowdale D, Andrulis IL, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 2012; 21: 134-47.
11. van Beers EH, van Welsem T, Wessels LF, et al. Comparative genomic hybridization profiles in human BRCA1 and BRCA2 breast tumors highlight differential sets of genomic aberrations. Cancer Res 2005; 65: 822-7.
12. Jonsson G, Naylor TL, Vallon-Christersson J, et al. Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. Cancer Res 2005; 65: 7612-21.
13. Melchor L, Honrado E, Garcia MJ, et al. Distinct genomic aberration patterns are found in familial breast cancer associated with different immunohistochemical subtypes. Oncogene 2008; 27: 3165-75.
14. Stefansson OA, Jonasson JG, Johannsson OT, et al. Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes. Breast Cancer Res 2009; 11: R47.
15. Joosse SA, Brandwijk KI, Devilee P, et al. Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH. Breast Cancer Res Treat 2012; 132: 379-89.
16. Popova T, Manie E, Stoppa-Lyonnet D, et al. Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Genome Biol 2009; 10: R128.
17. Waddell N, Arnold J, Cocciardi S, et al. Subtypes of familial breast tumours revealed by expression and copy number profiling. Breast Cancer Res Treat 2010; 123: 661-77.
18. DeRose YS, Wang G, Lin YC, et al. Tumor grafts derived from women with breast cancer authentically reflect tumor pathology, growth, metastasis and disease outcomes. Nat Med 2011; 17: 1514-20.
19. Guenthoer J, Diede SJ, Tanaka H, et al. Assessment of palindromes as platforms for DNA amplification in breast cancer. Genome Res 2012; 22: 232-45.
20. Vincent-Salomon A, Gruel N, Lucchesi C, et al. Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity. Breast Cancer Res 2007; 9: R24.
21. Caux-Moncoutier V, Castera L, Tirapo C, et al. EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Hum Mutat 2011; 32: 1-10.
22. Staaf J, Vallon-Christersson J, Lindgren D, et al. Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios. Biomed Chromatogr Bioinformatics 2008; 9: 409.
23. Popova T, Manie E, Rieunier G, et al. Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation. Cancer Res 2012; 72: 1-9.
24. R Development Core Team. R: a language and environment for statistical computing. R Foundation for Statistical Computing. Vienna, Austria, 2009.
25. Storchova Z, Kuffer C,. The consequences of tetraploidy and aneuploidy. J Cell Sci 2008; 121: 3859-66.
26. Jonsdottir AB, Stefansson OA, Bjornsson J, et al. Tetraploidy in BRCA2 breast tumours. Eur J Cancer 2012; 48: 305-10.
27. Hicks J, Krasnitz A, Lakshmi B, et al. Novel patterns of genome rearrangement and their association with survival in breast cancer. Genome Res 2006; 16: 1465-79.
28. Malone KE, Daling JR, Doody DR, et al. Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res 2006; 66: 8297-308.
29. Chin K, DeVries S, Fridlyand J, et al. Genomic and transcriptional aberrations linked to breast cancer pathophysiologies. Cancer Cell 2006; 10: 529-41.
30. Rouault A, Banneau G, Macgrogan G, et al. Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations. PLoS One 2012; 7: e52079.
31. Guedj M, Marisa L, de Reynies A, et al. A refined molecular taxonomy of breast cancer. Oncogene 2012; 31: 1196-206.