Genomic alterations in histopathologically normal breast tissue from BRCA1 mutation carriers may be caused by BRCA1 haploinsufficiency

Genes Chromosomes and Cancer

Volumn 49, Issue 1, 2010, Pages 78-90

  Rennstam, Karin ^a   Ringberg, Anita ^b   Cunliffe, Heather E ^c   Olsson, Håkan ^a   Landberg, Göran ^a,d   Hedenfalk, Ingrid ^a,c  

^a LUND UNIVERSITY   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; PROGESTERONE RECEPTOR;

ADULT; ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; BREAST EPITHELIUM; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; DNA BINDING; DNA METHYLATION; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENOMIC INSTABILITY; HAPLOTYPE; HETEROZYGOSITY LOSS; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MITOTIC RECOMBINATION; PRIORITY JOURNAL; PROTEIN FUNCTION; TRANSCRIPTION REGULATION;

ADULT; BRCA1 PROTEIN; BREAST; BREAST NEOPLASMS; CASE-CONTROL STUDIES; EPITHELIUM; ESTROGEN RECEPTOR ALPHA; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; GENOMIC INSTABILITY; HAPLOTYPES; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION;

EID: 74949104849     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20723     Document Type: Article

References (41)

1. Allred DC, Mohsin SK, Fuqua SA. 2001. Histological and biological evolution of human premalignant breast disease. Endocr Relat Cancer 8:47-61.
2. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. 2003. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet 72:1117-1130.
3. Bartek J, Lukas J, Bartkova J. 2007. DNA damage response as an anti-cancer barrier: Damage threshold and the concept of "conditional haploinsufficiency." Cell Cycle 6:2344-2347.
4. Campbell LL, Polyak K. 2007. Breast tumor heterogeneity: Cancer stem cells or clonal evolution? Cell Cycle 6:2332-2338.
5. Cavalli LR, Singh B, Isaacs C, Dickson RB, Haddad BR. 2004. Loss of heterozygosity in normal breast epithelial tissue and benign breast lesions in BRCA1/2 carriers with breast cancer. Cancer Genet Cytogenet 149:38-43.
6. Chen H, Sukumar S. 2003. Role of homeobox genes in normal mammary gland development and breast tumorigenesis. J Mammary Gland Biol Neoplasia 8:159-175.
7. Chu MC, Selam FB, Taylor HS. 2004. HOXA10 regulates p53 expression and matrigel invasion in human breast cancer cells. Cancer Biol Ther 3:568-572.
8. Clarke CL, Sandle J, Jones AA, Sofronis A, Patani NR, Lakhani SR. 2006. Mapping loss of heterozygosity in normal human breast cells from BRCA1/2 carriers. Br J Cancer 95:515-519.
9. Cordon-Cardo C. 2008. Molecular alterations associated with bladder cancer initiation and progression. Scand J Urol Nephrol Suppl 218:154-165.
10. Cousineau I, Belmaaza A. 2007. BRCA1 haploinsufficiency, but not heterozygosity for a BRCA1-truncating mutation, deregulates homologous recombination. Cell Cycle 6:962-971.
11. Deng G, Lu Y, Zlotnikov G, Thor AD, Smith HS. 1996. Loss of heterozygosity in normal tissue adjacent to breast carcinomas. Science 274:2057-2059.
12. Domchek SM, Weber BL. 2006. Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene 25:5825-5831.
13. Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, Tung N, Olopade OI, Weber BL, McLennan J, Olivotto IA, Begin LR, Narod SA. 2004. Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: The influence of age, grade, and histological type. Clin Cancer Res 10:2029-2034.
14. Goldberg JI, Borgen PI. 2006. Breast cancer susceptibility testing: Past, present and future. Expert Rev Anticancer Ther 6:1205-1214.
15. Gronwald J, Tung N, Foulkes WD, Offit K, Gershoni R, Daly M, Kim-Sing C, Olsson H, Ainsworth P, Eisen A, Saal H, Friedman E, Olopade O, Osborne M, Weitzel J, Lynch H, Ghadirian P, Lubinski J, Sun P, Narod SA,Hereditary Breast Cancer Clinical Study Group. 2006. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update. Int J Cancer 118:2281-2284.
16. Guillem JG, Wood WC, Moley JF, Berchuck A, Karlan BY, Mutch DG, Gagel RF, Weitzel J, Morrow M, Weber BL, Giardiello F, Rodriguez-Bigas MA, Church J, Gruber S, Offit K. 2006. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol 24:4642-4660.
17. Hagen AI, Kvistad KA, Maehle L, Holmen MM, Aase H, Styr B, Vabo A, Apold J, Skaane P, Moller P. 2007. Sensitivity of MRI versus conventional screening in the diagnosis of BRCA-associated breast cancer in a national prospective series. Breast 16:367-374.
18. Hedenfalk I, Ringner M, Ben-Dor A, Yakhini Z, Chen Y, Chebil G, Ach R, Loman N, Olsson H, Meltzer P, Borg A, Trent J. 2003. Molecular classification of familial non-BRCA1/BRCA2 breast cancer. Proc Natl Acad Sci USA 100:2532-2537.
19. Hosey AM, Gorski JJ, Murray MM, Quinn JE, Chung WY, Stewart GE, James CR, Farragher SM, Mulligan JM, Scott AN, Dervan PA, Johnston PG, Couch FJ, Daly PA, Kay E, McCann A, Mullan PB, Harkin DP. 2007. Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer. J Natl Cancer Inst 99:1683-1694.
20. Jonsson G, Naylor TL, Vallon-Christersson J, Staaf J, Huang J, Ward MR, Greshock JD, Luts L, Olsson H, Rahman N, Stratton M, Ringner M, Borg A, Weber BL. 2005. Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. Cancer Res 65:7612-7621.
21. Lakhani SR, Chaggar R, Davies S, Jones C, Collins N, Odel C, Stratton MR, O'Hare MJ. 1999. Genetic alterations in "normal" luminal and myoepithelial cells of the breast. J Pathol 189:496-503.
22. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, Bishop T, Benitez J, Rivas C, Bignon YJ, Chang-Claude J, Hamann U, Cornelisse CJ, Devilee P, Beckmann MW, Nestle-Kramling C, Daly PA, Haites N, Varley J, Lalloo F, Evans G, Maugard C, Meijers-Heijboer H, Klijn JG, Olah E, Gusterson BA, Pilotti S, Radice P, Scherneck S, Sobol H, Jacquemier J, Wagner T, Peto J, Stratton MR, McGuffog L, Easton DF. 2005. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res 11:5175-5180.
23. Larson PS, Schlechter BL, de las Morenas A, Garber JE, Cupples LA, Rosenberg CL. 2005. Allele imbalance, or loss of heterozygosity, in normal breast epithelium of sporadic breast cancer cases and BRCA1 gene mutation carriers is increased compared with reduction mammoplasty tissues. J Clin Oncol 23:8613-8619.
24. Liebens FP, Carly B, Pastijn A, Rozenberg S. 2007. Management of BRCA1/2 associated breast cancer: A systematic qualitative review of the state of knowledge in 2006. Eur J Cancer 43:238-257.
25. Ma XJ, Wang Z, Ryan PD, Isakoff SJ, Barmettler A, Fuller A, Muir B, Mohapatra G, Salunga R, Tuggle JT, Tran Y, Tran D, Tassin A, Amon P, Wang W, Enright E, Stecker K, Estepa-Sabal E, Smith B, Younger J, Balis U, Michaelson J, Bhan A, Habin K, Baer TM, Brugge J, Haber DA, Erlander MG, Sgroi DC. 2004. A two-gene expression ratio predicts clinical outcome in breast cancer patients treated with tamoxifen. Cancer Cell 5:607-616.
26. Ma J, Gao M, Lu Y, Feng X, Zhang J, Lin D, Xiao T, Hu Z, Yuan J, Su K, Shipley J, Xue J, Gao Y. 2006. Gain of 1q25-32, 12q23-24.3, and 17q12-22 facilitates tumorigenesis and progression of human squamous cell lung cancer. J Pathol 210:205-213.
27. Mullan PB, Quinn JE, Harkin DP. 2006. The role of BRCA1 in transcriptional regulation and cell cycle control. Oncogene 25:5854-5863.
28. Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, Stoppa-Lyonnet D, Lerman C, Pasini B, de los Rios P, Weber B, Lynch H. 2000. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 356:1876-1881.
29. 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.
30. Petersson C, Pandis N, Mertens F, Adeyinka A, Ingvar C, Ringberg A, Idvall I, Bondeson L, Borg A, Olsson H, Kristoffersson U, Mitelman F. 1996. Chromosome aberrations in prophylactic mastectomies from women belonging to breast cancer families. Genes Chromosomes Cancer 16:185-188.
31. Petersson C, Pandis N, Rizou H, Mertens F, Dietrich CU, Adeyinka A, Idvall I, Bondeson L, Georgiou G, Ingvar C, Heim S, Mitelman F. 1997. Karyotypic abnormalities in fibroadenomas of the breast. Int J Cancer 70:282-286.
32. Pierce LJ, Levin AM, Rebbeck TR, Ben-David MA, Friedman E, Solin LJ, Harris EE, Gaffney DK, Haffty BG, Dawson LA, Narod SA, Olivotto IA, Eisen A, Whelan TJ, Olopade OI, Isaacs C, Merajver SD, Wong JS, Garber JE, Weber BL. 2006. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol 24:2437-2443.
33. Raman V, Martensen SA, Reisman D, Evron E, Odenwald WF, Jaffee E, Marks J, Sukumar S. 2000. Compromised HOXA5 function can limit p53 expression in human breast tumours. Nature 405:974-978.
34. Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L, Isaacs C, Olopade O, Garber JE, Godwin AK, Daly MB, Narod SA, Neuhausen SL, Lynch HT, Weber BL. 1999. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 91:1475-1479.
35. Staff S, Isola J, Tanner M. 2003. Haplo-insufficiency of BRCA1 in sporadic breast cancer. Cancer Res 63:4978-4983.
36. Teixeira MR, Pandis N, Gerdes AM, Dietrich CU, Bardi G, Andersen JA, Graversen HP, Mitelman F, Heim S. 1996. Cytogenetic abnormalities in an in situ ductal carcinoma and five prophylactically removed breasts from members of a family with hereditary breast cancer. Breast Cancer Res Treat 38:177-182.
37. Tirkkonen M, Johannsson O, Agnarsson BA, Olsson H, Ingvarsson S, Karhu R, Tanner M, Isola J, Barkardottir RB, Borg A, Kallioniemi OP. 1997. Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations. Cancer Res 57:1222-1227.
38. van Beers EH, van Welsem T, Wessels LF, Li Y, Oldenburg RA, Devilee P, Cornelisse CJ, Verhoef S, Hogervorst FB, van't Veer LJ, Nederlof PM. 2005. Comparative genomic hybridization profiles in human BRCA1 and BRCA2 breast tumors highlight differential sets of genomic aberrations. Cancer Res 65:822-827.
39. Venkitaraman AR. 2002. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108:171-182.
40. Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR, DeBoer G, Yaffe MJ, Messner SJ, Meschino WS, Piron CA, Narod SA. 2004. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292:1317-1325.
41. Wooster R, Weber BL. 2003. Breast and ovarian cancer. N Engl J Med 348:2339-2347.