Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations

British Journal of Cancer

Volumn 111, Issue 12, 2014, Pages 2351-2360

  Deb, S ^a,b,c   Wong, S Q ^a   Li, J ^a   Do, H ^d   Weiss, J ^d   Byrne, D ^a   Chakrabarti, A ^a   Bosma, T ^a   Fellowes, A ^a   Dobrovic, A ^a,d   Fox, S B ^a,b,c  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d LUDWIG INSTITUTE FOR CANCER RESEARCH   (Australia)

Author keywords

BRCA1; BRCA2; BRCAX; male breast cancer; MiSeq; PIK3CA; TP53

Indexed keywords

ABL1 PROTEIN; ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; GNAQ PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PIK3CA PROTEIN; PROTEIN; PROTEIN KINASE LKB1; PROTEIN P53; RB1 PROTEIN; SMARCB1 PROTEIN; UNCLASSIFIED DRUG; PTEN PROTEIN, HUMAN; TP53 PROTEIN, HUMAN;

ADULT; AGED; AMPLICON; ARTICLE; BREAST CANCER; COPY NUMBER VARIATION; EXON; FAMILIAL CANCER; FEMALE; FEMALE BREAST CANCER; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GERMLINE MUTATION; HIGH THROUGHPUT SCREENING; HUMAN; INVASIVE CARCINOMA; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MALE BREAST CANCER; MISSENSE MUTATION; NONSENSE MUTATION; ONCOGENE H RAS; PRIORITY JOURNAL; PROTEIN ANALYSIS; SIGNAL TRANSDUCTION; SOMATIC MUTATION; TUMOR GENE; VERY ELDERLY; BREAST TUMOR; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; TUMOR SUPPRESSOR GENE;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS, MALE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, P53; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84927558487     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/bjc.2014.511     Document Type: Article

References (34)

1. Anelli A, Anelli TF, Youngson B, Rosen PP, Borgen PI (1995) Mutations of the p53 gene in male breast cancer. Cancer 75: 2233-2238.
2. Benvenuti S, Frattini M, Arena S, Zanon C, Cappelletti V, Coradini D, Daidone MG, Pilotti S, Pierotti M.A, Bardelli A (2008) PIK3CA cancer mutations display gender and tissue specificity patterns. Hum Mutat 29: 284-288.
3. Bloom KJ, Govil H, Gattuso P, Reddy V, Francescatti D (2001) Status of HER-2 in male and female breast carcinoma. Am J Surg 182: 389-392.
4. Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumours. Nature 490: 61-70.
5. Cleton-Jansen AM, Collins N, Lakhani SR, Weissenbach J, Devilee P, Cornelisse CJ, Stratton MR (1995) Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13. Br J Cancer 72: 1241-1244.
6. Corso G, Marrelli D, Pascale V, Vindigni C, Roviello F (2012) Frequency of CDH1 germline mutations in gastric carcinoma coming from high-and low-risk areas: metanalysis and systematic review of the literature. BMC Cancer 12: 8.
7. Dawson PJ, Schroer KR, Wolman SR (1996) Ras and p53 genes in male breast cancer. Mod Pathol 9: 367-370.
8. Deb S, Do H, Byrne D, Jene N, Dobrovic A, Fox SB (2013) PIK3CA mutations are frequently observed in BRCAX but not BRCA2-associated male breast cancer. Breast Cancer Res 15: R69.
9. Deb S, Jene N, Fox SB (2012a) Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas. BMC Cancer 12: 510.
10. Deb S, Jene N, Kconfab I, Fox SB (2012b) Genotypic and phenotypic analysis of male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas. BMC Cancer 12: 510.
11. Do H, Wong SQ, Li J, Dobrovic A (2013) Reducing sequence artifacts in amplicon-based massively parallel sequencing of formalin-fixed paraffinembedded DNA by enzymatic depletion of uracil-containing templates. Clin Chem 59: 1376-1383.
12. Eisen MB, Spellman PT, Brown PO, Botstein D (1998) Cluster analysis and display of genome-wide expression patterns. Proc Natl Acad Sci USA 95: 14863-14868.
13. Giordano SH, Buzdar AU, Hortobagyi GN (2002) Breast cancer in men. Ann Intern Med 137: 678-687.
14. Greenblatt MS, Chappuis PO, Bond JP, Hamel N, Foulkes WD (2001) TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution. Cancer Res 61: 4092-4097.
15. Harvey JM, Clark GM, Osborne CK, Allred DC (1999) Estrogen receptor status by immunohistochemistry is superior to the ligand-binding assay for predicting response to adjuvant endocrine therapy in breast cancer. J Clin Oncol 17(5): 1474.
16. Hiort O, Naber SP, Lehners A, Muletta-Feurer S, Sinnecker GH, Zollner A, Komminoth P (1996) The role of androgen receptor gene mutations in male breast carcinoma. J Clin Endocrinol Metab 81: 3404-3407.
17. Johansson I, Nilsson C, Berglund P, Strand C, Jonsson G, Staaf J, Ringner M, Nevanlinna H, Barkardottir RB, Borg A, Olsson H, Luts L, Fjallskog ML, Hedenfalk I (2011) High-resolution genomic profiling of male breast cancer reveals differences hidden behind the similarities with female breast cancer. Breast Cancer Res Treat 129: 747-760.
18. Korde LA, Zujewski JA, Kamin L, Giordano S, Domchek S, Anderson WF, Bartlett JM, Gelmon K, Nahleh Z, Bergh J, Cutuli B, Pruneri G, Mccaskill-stevens W, Gralow J, Hortobagyi G, Cardoso F (2010) Multidisciplinary meeting on male breast cancer: summary and research recommendations. J Clin Oncol 28: 2114-2122.
19. Kornegoor R, Moelans CB, Verschuur-Maes AH, Hogenes MC, de Bruin PC, Oudejans JJ, Marchionni L, van Diest PJ (2012) Oncogene amplification in male breast cancer: analysis by multiplex ligation-dependent probe amplification. Breast Cancer Res Treat 135: 49-58.
20. Kwiatkowska E, Teresiak M, Breborowicz D, Mackiewicz A (2002) Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. Int J Cancer 98: 943-945.
21. Li J, Lupat R, AmarasingheKC, Thompson ER, DoyleMA, RylandGL, Tothill RW, Halgamuge SK, Campbell IG, Gorringe KL (2012) CONTRA: copy number analysis for targeted resequencing. Bioinformatics 28: 1307-1313.
22. Loo LW, Grove DI, Williams EM, Neal CL, Cousens LA, Schubert EL, Holcomb IN, Massa HF, Glogovac J, Li CI, Malone KE, Daling JR, Delrow JJ, Trask BJ, Hsu L, Porter PL (2004) Array comparative genomic hybridization analysis of genomic alterations in breast cancer subtypes. Cancer Res 64: 8541-8549.
23. Loughrey M, Provan PJ, Byth K, Balleine RL (2008) Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource. Pathology 40: 352-358.
24. Makretsov NA, Huntsman DG, Nielsen TO, Yorida E, Peacock M, Cheang MC, Dunn SE, Hayes M, van de Rijn M, Bajdik C, Gilks CB (2004) Hierarchical clustering analysis of tissue microarray immunostaining data identifies prognostically significant groups of breast carcinoma. Clin Cancer Res 10: 6143-6151.
25. Muir D, Kanthan R, Kanthan SC (2003) Male versus female breast cancers. A population-based comparative immunohistochemical analysis. Arch Pathol Lab Med 127: 36-41.
26. Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, Hernandez-Boussard T, Livasy C, Cowan D, Dressler L, Akslen LA, Ragaz J, Gown AM, Gilks CB, van de Rijn M, Perou CM (2004) Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res 10: 5367-5374.
27. Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, Johnson N, Lord CJ, Mitsopoulos C, Zvelebil M, Mcdade SS, Buck G, Blancher C, Trainer AH, James PA, Bojesen SE, Bokmand S, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Giannini G, Hollestelle A, Ouweland AM, Novakovic S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Easton DF, Pharoah PD, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Houlston RS, Garcia-Closas M, Ashworth A, Swerdlow AJ (2012) Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. Nat Genet 44: 1182-1184.
28. Ottini L, Masala G, D'amico C, Mancini B, Saieva C, Aceto G, Gestri D, Vezzosi V, Falchetti M, de Marco M, Paglierani M, Cama A, Bianchi S, Mariani-Costantini R, Palli D (2003) BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy. Cancer Res 63: 342-347.
29. Rudlowski C, Schulten HJ, Golas MM, Sander B, Barwing R, Palandt JE, Schlehe B, Lindenfelser R, Moll R, Liersch T, Schumpelick V, Gunawan B, Fuzesi L (2006) Comparative genomic hybridization analysis on male breast cancer. Int J Cancer 118: 2455-2460.
30. Tirkkonen M, Kainu T, Loman N, Johannsson OT, Olsson H, Barkardottir RB, Kallioniemi OP, Borg A (1999) Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer. Genes Chromosomes Cancer 24: 56-61.
31. Tommasi S, Mangia A, Iannelli G, Chiarappa P, Rossi E, Ottini L, Mottolese M, Zoli W, Zuffardi O, Paradiso A (2011) Gene copy number variation in male breast cancer by aCGH. Cell Oncol (Dordr) 34: 467-473.
32. van de Rijn M, Gilks CB (2004) Applications of microarrays to histopathology. Histopathology 44: 97-108.
33. Weiss JR, Moysich KB, Swede H (2005) Epidemiology of male breast cancer. Cancer Epidemiol Biomarkers Prev 14: 20-26.
34. Wolff AC, Hammond ME, Schwartz JN, Hagerty KL, Allred DC, Cote RJ, Dowsett M, Fitzgibbons PL, Hanna WM, Langer A, McShane LM, Paik S, Pegram MD, Perez EA, Press MF, Rhodes A, Sturgeon C, Taube SE, Tubbs R, Vance GH, van de Vijver M, Wheeler TM, Hayes DF; American Society of Clinical Oncology; College of American Pathologists (2007) American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J Clin Oncol 25(1): 118-145.