medigraphic.com
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2017, Number 4

<< Back Next >>

Rev Invest Clin 2017; 69 (4)

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To DNA Mutations

Gómez-Flores-Ramos L, Castro-Sánchez A, Peña-Curiel O, Mohar-Betancourt A

Language: Spanish
References: 133
Page: 181-192
PDF size: 132.56 Kb.


ABSTRACT

Young women with breast cancer (YWBC) represent roughly 15% of breast cancer (BC) cases in Latin America and other developing regions. Breast tumors occurring at an early age are more aggressive and have an overall worse prognosis compared to breast tumors in postmenopausal women. The expression of relevant proliferation biomarkers such as endocrine receptors and human epidermal growth factor receptor 2 appears to be unique in YWBC. Moreover, histopathological, molecular, genetic, and genomic studies have shown that YWBC exhibit a higher frequency of aggressive subtypes, differential tumor gene expression, increased genetic susceptibility, and specific genomic signatures, compared to older women with BC. This article reviews the current knowledge on tumor biology and genomic signatures in YWBC.


REFERENCES

  1. Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, et al. Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 2015;136:E359-86.

  2. Assi HA, Khoury KE, Dbouk H, Khalil LE, Mouhieddine TH, El Saghir NS. Epidemiology and prognosis of breast cancer in young women. J Thorac Dis. 2013;5 Suppl 1:S2-8.

  3. Villarreal-Garza C, Aguila C, Magallanes-Hoyos MC, Mohar A, Bargalló E, Meneses A, et al. Breast cancer in young women in Latin America: An unmet, growing burden. Oncologist. 2013;18:1298-306.

  4. Youlden DR, Cramb SM, Yip CH, Baade PD. Incidence and mortality of female breast cancer in the Asia-Pacific region. Cancer Biol Med. 2014;11:101-15.

  5. Chávarri-Guerra Y, Villarreal-Garza C, Liedke PE, Knaul F, Mohar A, Finkelstein DM, et al. Breast cancer in Mexico: A growing challenge to health and the health system. Lancet Oncol. 2012;13:e335-43.

  6. Narod SA. Breast cancer in young women. Nat Rev Clin Oncol. 2012;9:460-70.

  7. da Santos SS, Melo LR, Koifman RJ, Koifman S. Breast cancer incidence and mortality in women under 50 years of age in Brazil. Cad Saúde Públ. 2013;29:2230-40.

  8. Wong IO, Schooling CM, Cowling BJ, Leung GM. Breast cancer incidence and mortality in a transitioning Chinese population: Current and future trends. Br J Cancer. 2015;112:167-70.

  9. Han W, Kim SW, Park IA, Kang D, Kim SW, Youn YK, et al. Young age: An independent risk factor for disease-free survival in women with operable breast cancer. BMC Cancer. 2004;4:82.

  10. Young Age: The Most Significant Factor Contributing to Poorer Prognosis in Mexican Women with Breast Cancer - Cancerbiology- 3-1066.pdf. Available from: http://www.jscimedcentral. com/ CancerBiology/cancerbiology-3-1066.pdf. [Last cited on 2017 Mar 08].

  11. van der Sangen MJ, Scheepers SW, Poortmans PM, Luiten EJ, Nieuwenhuijzen GA, Voogd AC. Detection of local recurrence following breast-conserving treatment in young women with early breast cancer: Optimization of long-term follow-up strategies. Breast. 2013;22:351-6.

  12. van der Sangen MJ, Poortmans PM, Scheepers SW, Lemaire BM, van Berlo CL, Tjan-Heijnen VC, et al. Prognosis following local recurrence after breast conserving treatment in young women with early breast cancer. Eur J Surg Oncol. 2013;39:892-8.

  13. Voogd AC, Nielsen M, Peterse JL, Blichert-Toft M, Bartelink H, Overgaard M, et al. Differences in risk factors for local and distant recurrence after breast-conserving therapy or mastectomy for Stage I and II breast cancer: Pooled results of two large European randomized trials. J Clin Oncol. 2001;19:1688‑97.

  14. Lizarraga IM, Sugg SL, Weigel RJ, Scott-Conner CE. Review of risk factors for the development of contralateral breast cancer. Am J Surg. 2013;206:704-8.

  15. Davies KR, Cantor SB, Brewster AM. Better contralateral breast cancer risk estimation and alternative options to contralateral prophylactic mastectomy. Int J Womens Health. 2015;7:181-7.

  16. Villarreal-Garza C, Mohar A, Bargallo-Rocha JE, Lasa-Gonsebatt F, Reynoso-Noverón N, Matus-Santos J, et al. Molecular subtypes and prognosis in young Mexican women with breast cancer. Clin Breast Cancer. 2016;17:e95-102.

  17. Fredholm H, Eaker S, Frisell J, Holmberg L, Fredriksson I, Lindman H. Breast cancer in young women: Poor survival despite intensive treatment. PLoS One. 2009;4:e7695.

  18. Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet. 2001;358:1389-99.

  19. Lynch HT, Watson P, Conway T, Fitzsimmons ML, Lynch J. Breast cancer family history as a risk factor for early onset breast cancer. Breast Cancer Res Treat. 1988;11:263-7.

  20. Anders CK, Hsu DS, Broadwater G, Acharya CR, Foekens JA, Zhang Y, et al. Young age at diagnosis correlates with worse prognosis and defines a subset of breast cancers with shared patterns of gene expression. J Clin Oncol. 2008;26:3324-30.

  21. Walker RA, Lees E, Webb MB, Dearing SJ. Breast carcinomas occurring in young women (<35 years) are different. Br J Cancer. 1996;74:1796-800.

  22. Kim J, Han W, Jung SY, Park YH, Moon HG, Ahn SK, et al. The value of Ki67 in very young women with hormone receptor-positive breast cancer: Retrospective analysis of 9,321 Korean women. Ann Surg Oncol. 2015;22:3481-8.

  23. Morrison DH, Rahardja D, King E, Peng Y, Sarode VR. Tumour biomarker expression relative to age and molecular subtypes of invasive breast cancer. Br J Cancer. 2012;107:382-7.

  24. Lee HB, Han W. Unique features of young age breast cancer and its management. J Breast Cancer. 2014;17:301-7.

  25. Rosenberg SM, Partridge AH. Management of breast cancer in very young women. Breast. 2015;24 Suppl 2:S154-8.

  26. Collins LC, Marotti JD, Gelber S, Cole K, Ruddy K, Kereakoglow S, et al. Pathologic features and molecular phenotype by patient age in a large cohort of young women with breast cancer. Breast Cancer Res Treat. 2012;131:1061-6.

  27. Copson E, Eccles B, Maishman T, Gerty S, Stanton L, Cutress RI, et al. Prospective observational study of breast cancer treatment outcomes for UK women aged 18-40 years at diagnosis: The POSH study. J Natl Cancer Inst. 2013;105:978-88.

  28. Anders CK, Acharya CR, Hsu DS, Broadwater G, Garman K, Foekens JA, et al. Age-specific differences in oncogenic pathway deregulation seen in human breast tumors. PLoS One. 2008;3:e1373.

  29. Azim HA Jr, Nguyen B, Brohée S, Zoppoli G, Sotiriou C. Genomic aberrations in young and elderly breast cancer patients. BMC Med. 2015;13:266.

  30. Azim HA Jr, Michiels S, Bedard PL, Singhal SK, Criscitiello C, Ignatiadis M, et al. Elucidating prognosis and biology of breast cancer arising in young women using gene expression profiling. Clin Cancer Res. 2012;18:1341-51.

  31. Colak D, Nofal A, Albakheet A, Nirmal M, Jeprel H, Eldali A, et al. Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women. PLoS One. 2013;8:e63204.

  32. Atashgaran V, Wrin J, Barry SC, Dasari P, Ingman WV. Dissecting the biology of menstrual cycle-associated breast cancer risk. Front Oncol. 2016;6:267.

  33. Lyons TR, O’Brien J, Borges VF, Conklin MW, Keely PJ, Eliceiri KW, et al. Postpartum mammary gland involution drives progression of ductal carcinoma in situ through collagen and COX-2. Nat Med. 2011;17:1109-15.

  34. Azim HA Jr, Brohée S, Peccatori FA, Desmedt C, Loi S, Lambrechts D, et al. Biology of breast cancer during pregnancy using genomic profiling. Endocr Relat Cancer. 2014;21:545-54.

  35. Hartman EK, Eslick GD. The prognosis of women diagnosed with breast cancer before, during and after pregnancy: A meta-analysis. Breast Cancer Res Treat. 2016;160:347-60.

  36. Fornetti J, Martinson HA, Betts CB, Lyons TR, Jindal S, Guo Q, et al. Mammary gland involution as an immunotherapeutic target for postpartum breast cancer. J Mammary Gland Biol Neoplasia. 2014;19:213-28.

  37. Kurozumi S, Yamaguchi Y, Kurosumi M, Ohira M, Matsumoto H, Horiguchi J. Recent trends in microRNA research into breast cancer with particular focus on the associations between microRNAs and intrinsic subtypes. J Hum Genet. 2017; 62:15-24.

  38. Bertoli G, Cava C, Castiglioni I. MicroRNAs: New biomarkers for diagnosis, prognosis, therapy prediction and therapeutic tools for breast cancer. Theranostics. 2015;5:1122-43.

  39. Rupaimoole R, Slack FJ. MicroRNA therapeutics: Towards a new era for the management of cancer and other diseases. Nat Rev Drug Discov. 2017;16:203-22.

  40. Peña-Chilet M, Martínez MT, Pérez-Fidalgo JA, Peiró-Chova L, Oltra SS, Tormo E, et al. MicroRNA profile in very young women with breast cancer. BMC Cancer. 2014;14:529.

  41. Li Y, Xu Y, Yu C, Zuo W. Associations of miR-146a and miR-146b expression and breast cancer in very young women. Cancer Biomark. 2015;15:881-7.

  42. Nassar FJ, El Sabban M, Zgheib NK, Tfayli A, Boulos F, Jabbour M, et al. miRNA as potential biomarkers of breast cancer in the Lebanese population and in young women: A pilot study. PLoS One. 2014;9:e107566.

  43. Garcia AI, Buisson M, Bertrand P, Rimokh R, Rouleau E, Lopez BS, et al. Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers. EMBO Mol Med. 2011;3:279-90.

  44. Han M, Liu M, Wang Y, Chen X, Xu J, Sun Y, et al. Antagonism of miR-21 reverses epithelial-mesenchymal transition and cancer stem cell phenotype through AKT/ERK1/2 inactivation by targeting PTEN. PLoS One. 2012;7:e39520.

  45. Buscaglia LE, Li Y. Apoptosis and the target genes of microRNA-21. Chin J Cancer. 2011;30:371-80.

  46. Cimino D, De Pittà C, Orso F, Zampini M, Casara S, Penna E, et al. miR148b is a major coordinator of breast cancer progression in a relapse-associated microRNA signature by targeting ITGA5, ROCK1, PIK3CA, NRAS, and CSF1. FASEB J. 2013;27:1223-35.

  47. Ma L, Teruya-Feldstein J, Weinberg RA. Tumour invasion and metastasis initiated by microRNA-10b in breast cancer. Nature. 2007;449:682-8.

  48. Bahrami A, Aledavood A, Anvari K, Hassanian SM, Maftouh M, Yaghobzade A, et al. The prognostic and therapeutic application of microRNAs in breast cancer: Tissue and circulating microRNAs. J Cell Physiol. 2017.

  49. Nassar FJ, Nasr R, Talhouk R. MicroRNAs as biomarkers for early breast cancer diagnosis, prognosis and therapy prediction. Pharmacol Ther. 2016;172:34-49.

  50. Tang Q, Cheng J, Cao X, Surowy H, Burwinkel B. Blood-based DNA methylation as biomarker for breast cancer: A systematic review. Clin Epigenetics. 2016;8:115.

  51. Cai Y, Tsai HC, Yen RC, Zhang YW, Kong X, Wang W, et al. Critical threshold levels of DNA methyltransferase 1 are required to maintain DNA methylation across the genome in human cancer cells. Genome Res. 2017;27:533-44.

  52. Wong EM, Southey MC, Fox SB, Brown MA, Dowty JG, Jenkins MA, et al. Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer. Cancer Prev Res (Phila). 2011;4:23-33.

  53. Scott CM, Joo JE, O’Callaghan N, Buchanan DD, Clendenning M, Giles GG, et al. Methylation of breast cancer predisposition genes in early-onset breast cancer: Australian breast cancer family registry. PLoS One. 2016;11:e0165436.

  54. Forbes SA, Beare D, Boutselakis H, Bamford S, Bindal N, Tate J, et al. COSMIC: Somatic cancer genetics at high-resolution. Nucleic Acids Res. 2017;45:D777-D783.

  55. Forbes SA, Beare D, Bindal N, Bamford S, Ward S, Cole CG, et al. COSMIC: High-resolution cancer genetics using the catalogue of somatic mutations in cancer. Curr Protoc Hum Genet. 2016; 91:10.11.1-10.11.37.

  56. Encinas G, Maistro S, Pasini FS, Katayama ML, Brentani MM, Bock GH, et al. Somatic mutations in breast and serous ovarian cancer young patients: A systematic review and meta-analysis. Rev Assoc Med Bras. 2015;61:474-83.

  57. Cohen H, Ben-Hamo R, Gidoni M, Yitzhaki I, Kozol R, Zilberberg A, et al. Shift in GATA3 functions, and GATA3 mutations, control progression and clinical presentation in breast cancer. Breast Cancer Res. 2014;16:464.

  58. Gaynor KU, Grigorieva IV, Allen MD, Esapa CT, Head RA, Gopinath P, et al. GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness. Horm Cancer. 2013;4:123-39.

  59. Adomas AB, Grimm SA, Malone C, Takaku M, Sims JK, Wade PA. Breast tumor specific mutation in GATA3 affects physiological mechanisms regulating transcription factor turnover. BMC Cancer. 2014;14:278.

  60. Chou J, Provot S, Werb Z. GATA3 in development and cancer differentiation: Cells GATA have it!. J Cell Physiol. 2010;222:42‑9.

  61. Economopoulou P, Dimitriadis G, Psyrri A. Beyond BRCA: New hereditary breast cancer susceptibility genes. Cancer Treat Rev. 2015;41:1-8.

  62. Rich TA, Woodson AH, Litton J, Arun B. Hereditary breast cancer syndromes and genetic testing. J Surg Oncol. 2015;111: 66-80.

  63. Apostolou P, Fostira F. Hereditary breast cancer: The era of new susceptibility genes. Biomed Res Int. 2013;2013:747318.

  64. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. 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. 2003;72:1117-30.

  65. Malone KE, Daling JR, Neal C, Suter NM, O’Brien C, Cushing- Haugen K, et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer. 2000;88:1393-402.

  66. Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Sifuentes E, Magallanes-Hoyos MC, Gallardo L, et al. The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat. 2015;150:389-94.

  67. Sorrell AD, Espenschied CR, Culver JO, Weitzel JN. Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome: current status of clinical applications and future directions. Mol Diagn Ther. 2013;17:31-47.

  68. Torres-Mejía G, Royer R, Llacuachaqui M, Akbari MR, Giuliano AR, Martínez-Matsushita L, et al. Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. Cancer Epidemiol Biomark Prev. 2015;24:498-505.

  69. Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, et al. Breast cancer phenotype in women with TP53 germline mutations: A Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat. 2012;133:1125-30.

  70. Soussi T, Wiman KG. TP53: An oncogene in disguise. Cell Death Differ. 2015;22:1239-49.

  71. Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009;27:1250-6.

  72. Damineni S, Rao VR, Kumar S, Ravuri RR, Kagitha S, Dunna NR, et al. Germline mutations of TP53 gene in breast cancer. Tumour Biol. 2014;35:9219-27.

  73. Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, et al. Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res. 2010;70:4795-800.

  74. Hobert JA, Eng C. PTEN hamartoma tumor syndrome: An overview. Genet Med. 2009;11:687-94.

  75. Ngeow J, Sesock K, Eng C. Breast cancer risk and clinical implications for germline PTEN mutation carriers. Breast Cancer Res Treat. 2015.

  76. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res Off J Am Assoc Cancer Res. 2012;18:400‑7.

  77. Pradella LM, Evangelisti C, Ligorio C, Ceccarelli C, Neri I, Zuntini R, et al. A novel deleterious PTEN mutation in a patient with early- onset bilateral breast cancer. BMC Cancer. 2014;14:70.

  78. Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, et al. Double heterozygosity of BRCA2 and STK11 in familial breast cancer detected by exome sequencing. Iran J Public Health. 2015;44:1348-52.

  79. Turpin A, Cattan S, Leclerc J, Wacrenier A, Manouvrier-Hanu S, Buisine MP, et al. Hereditary predisposition to cancers of the digestive tract, breast, gynecological and gonadal: Focus on the Peutz-Jeghers. Bull Cancer. 2014;101:813-22.

  80. van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz- Jeghers syndrome: A systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105:1258-64.

  81. Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study. Dig Liver Dis. 2013;45:606-11.

  82. Lorenzo Liñán MÁ, Lorenzo Campos M, Motos Micó J, Martínez Pérez C, Gumbau Puchol V. Bilateral breast cancer and Peutz- Jeghers syndrome. Cir Esp. 2013;91:195-7.

  83. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, et al. Frequency and spectrum of cancers in the Peutz- Jeghers syndrome. Clin Cancer Res. 2006;12:3209‑15.

  84. CDH1 Cadherin 1 [Homo Sapiens (Human)]-Gene-NCBI. Available from: http://www.ncbi.nlm.nih.gov/gene/999. [Last cited on 2017 Mar 30].

  85. Kluijt I, Sijmons RH, Hoogerbrugge N, Plukker JT, de Jong D, van Krieken JH, et al. Familial gastric cancer: Guidelines for diagnosis, treatment and periodic surveillance. Fam Cancer. 2012;11: 363-9.

  86. Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, et al. Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer. 2014;110:1053-7.

  87. Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, et al. Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet. 2007;44:726-31.

  88. Xie ZM, Li LS, Laquet C, Penault-Llorca F, Uhrhammer N, Xie XM, et al. Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer. 2011;117:3112-7.

  89. Schrader KA, Masciari S, Boyd N, Salamanca C, Senz J, Saunders DN, et al. Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet. 2011;48:64-8.

  90. CHEK Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004;74:1175-82.

  91. Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: Meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008;26:542-8.

  92. Rashid MU, Muhammad N, Faisal S, Amin A, Hamann U. Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan. BMC Cancer. 2013;13:312.

  93. Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, et al. Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin. Mol Biol Rep. 2014;41:1103-7.

  94. Wang N, Ding H, Liu C, Li X, Wei L, Yu J, et al. A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk. Oncogene. 2015;34:5198-205.

  95. Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497-506.

  96. Ding YC, Steele L, Chu LH, Kelley K, Davis H, John EM, et al. Germline mutations in PALB2 in African-American breast cancer cases. Breast Cancer Res Treat. 2011;126:227-30.

  97. Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007;446:316-9.

  98. Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, et al. Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res. 2007;9:R83.

  99. García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, et al. Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat. 2009;113:545-51.

  100. Sluiter M, Mew S, van Rensburg EJ. PALB2 sequence variants in young South African breast cancer patients. Fam Cancer. 2009; 8:347-53.

  101. Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005;97:813-22.

  102. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst. 1986;77:89-92.

  103. Lin PH, Kuo WH, Huang AC, Lu YS, Lin CH, Kuo SH, et al. Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. Oncotarget. 2016;7:8310‑20.

  104. Izatt L, Greenman J, Hodgson S, Ellis D, Watts S, Scott G, et al. Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Genes Chromosomes Cancer. 1999;26:286-94.

  105. Teraoka SN, Malone KE, Doody DR, Suter NM, Ostrander EA, Daling JR, et al. Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer. 2001;92:479-87.

  106. Byrnes GB, Southey MC, Hopper JL. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? Breast Cancer Res. 2008;10:208.

  107. Churpek JE, Walsh T, Zheng Y, Moton Z, Thornton AM, Lee MK, et al. Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat. 2015;149:31-9.

  108. Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 2015;33:304‑11.

  109. Karppinen SM, Heikkinen K, Rapakko K, Winqvist R. Mutation screening of the BARD1 gene: Evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. J Med Genet. 2004;41:e114.

  110. Stacey SN, Sulem P, Johannsson OT, Helgason A, Gudmundsson J, Kostic JP, et al. The BARD1 Cys557Ser variant and breast cancer risk in Iceland. PLoS Med. 2006;3:e217.

  111. Williams RS, Williams JS, Tainer JA. Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double- strand break signaling, and the chromatin template. Biochem Cell Biol. 2007;85:509-20.

  112. Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: Results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Res. 2014;16:R58.

  113. Zhang ZH, Yang LS, Huang F, Hao JH, Su PY, Sun YH. Current evidence on the relationship between two polymorphisms in the NBS1 gene and breast cancer risk: A meta-analysis. Asian Pac J Cancer Prev. 2012;13:5375-9.

  114. Zhang G, Zeng Y, Liu Z, Wei W. Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. Tumour Biol. 2013;34:2753-7.

  115. Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska-Dura M, et al. Non-hodgkin lymphoma (NHL) in children with Nijmegen breakage syndrome (NBS). Pediatr Blood Cancer. 2009;52:186-90.

  116. Suwaki N, Klare K, Tarsounas M. RAD51 paralogs: Roles in DNA damage signalling, recombinational repair and tumorigenesis. Semin Cell Dev Biol. 2011;22:898-905.

  117. Unger-Saldaña K, Miranda A, Zarco-Espinosa G, Mainero- Ratchelous F, Bargalló-Rocha E, Miguel Lázaro-León J. Health system delay and its effect on clinical stage of breast cancer: Multicenter study. Cancer. 2015;121:2198-206.

  118. Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell. 1997;88:265-75.

  119. Wong AK, Pero R, Ormonde PA, Tavtigian SV, Bartel PL. RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2. J Biol Chem. 1997;272:31941-4.

  120. Dray E, Etchin J, Wiese C, Saro D, Williams GJ, Hammel M, et al. Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2. Nat Struct Mol Biol. 2010;17:1255-9.

  121. Golmard L, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, et al. Germline mutation in the RAD51B gene confers predisposition to breast cancer. BMC Cancer. 2013;13:484.

  122. Michailidou K, Beesley J, Lindstrom S, Canisius S, Dennis J, Lush MJ, et al. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet. 2015;47:373-80.

  123. Ahsan H, Halpern J, Kibriya MG, Pierce BL, Tong L, Gamazon E, et al. A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. Cancer Epidemiol Biomark Prev. 2014;23:658-69.

  124. Barnholtz-Sloan JS, Shetty PB, Guan X, Nyante SJ, Luo J, Brennan DJ, et al. FGFR2 and other loci identified in genomewide association studies are associated with breast cancer in African-American and younger women. Carcinogenesis. 2010; 31:1417-23.

  125. Fejerman L, Stern MC, John EM, Torres-Mejía G, Hines LM, Wolff RK, et al. Interaction between common breast cancer susceptibility variants, genetic ancestry, and nongenetic risk factors in hispanic women. Cancer Epidemiol Biomark Prev. 2015;24:1731‑8.

  126. Söderlund K, Skoog L, Fornander T, Askmalm MS. The BRCA1/ BRCA2/Rad51 complex is a prognostic and predictive factor in early breast cancer. Radiother Oncol. 2007;84:242-51.

  127. Söderlund Leifler K, Asklid A, Fornander T, Stenmark Askmalm M. The RAD51 135G>C polymorphism is related to the effect of adjuvant therapy in early breast cancer. J Cancer Res Clin Oncol. 2015;141:797-804.

  128. Liu D, Wang X, Chen Z. Tumor necrosis factor-a, a regulator and therapeutic agent on breast cancer. Curr Pharm Biotechnol. 2016;17:486-94.

  129. Korobeinikova E, Myrzaliyeva D, Ugenskiene R, Raulinaityte D, Gedminaite J, Smigelskas K, et al. The prognostic value of IL10 and TNF alpha functional polymorphisms in premenopausal early-stage breast cancer patients. BMC Genet. 2015;16:70.

  130. Gómez Flores-Ramos L, Escoto-De Dios A, Puebla-Pérez AM, Figuera-Villanueva LE, Ramos-Silva A, Ramírez-Patiño R, et al. Association of the tumor necrosis factor-alpha-308G>A polymorphism with breast cancer in Mexican women. Genet Mol Res. 2013;12:5680-93.

  131. Paluch-Shimon S, Pagani O, Partridge AH, Bar-Meir E, Fallowfield L, Fenlon D, et al. Second international consensus guidelines for breast cancer in young women (BCY2). Breast. 2016;26:87‑99.

  132. Nelson HD, Fu R, Goddard K, Mitchell JP, Okinaka-Hu L, Pappas M, et al. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U. S. Preventive Services Task Force Recommendation. Rockville, MD: Agency for Healthcare Research and Quality (US); 2013. Available from: http://www.ncbi.nlm.nih.gov/ books/NBK179201. [Last cited on 2017 Mar 10].

  133. Kaphingst KA, Ivanovich J, Elrick A, Dresser R, Matsen C, Goodman MS. How, who, and when: Preferences for delivery of genome sequencing results among women diagnosed with breast cancer at a young age. Mol Genet Genomic Med. 2016; 4:684‑95.




2020     |     www.medigraphic.com