BRCA mutation: A review of breast cancer
In the present study, we focus on the causes of a major cancer type contributing to the major deaths due to cancer across the world. Breast cancer which accounts for more than approximately 29 to 34% affected to women posing a major cause of death due to cancer. In-situ carcinomas might arise in either ductal or lobular epithelium, but remain confined there, with no invasion of the underlying basement membrane that would constitute extension beyond epithelial boundaries. Approximately 29 to 34% of women with invasive breast cancer will die of their disease. This syndrome presents as skin changes resembling skin condition like redness, discoloration, or mild flaking of the nipple skin. As Paget's disease of the breast advances, symptoms may include skin tingling, itching, increased sensitivity, burning and pain. There may also be discharge from the nipple. Approximately half of women diagnosed with Paget's disease of the breast even have a lump within the breast.
Keywords: Breast cancer, BRCA mutation, BRCA1, BRCA2.
2. "Defining Cancer". National Cancer Institute. 17 September 2007. Retrieved 28 March 2018.
3. Sudhakar A, History of Cancer: Ancient and Modern Treatment Methods, Journal of Cancer Science & Therapy, 2009; 1(2). doi:10.4172/1948-5956.100000e2.
4. "Breast Cancer Treatment (PDQ®)". NCI. 23 May 2014. Archived from the original on 5 July 2014. Retrieved 29 June 2014.
5. World Cancer Report 2014. World Health Organization. 2014. pp. Chapter 5.2. ISBN 978-92-832-0429-9.
6. Rodney C, Breast cancer: A Review of the literature, Journal of Insurance Medicine, 2003; 35(2):85-101
7. Harris J, Lippman M, Veronesi U, et al. Breast Cancer (3 parts), N Engl J Med, 1992; 327(5):319-328
8. Merck Manual of Diagnosis and Therapy (February 2003). "Breast Disorders: Breast Cancer". Archived from the original on 2 October 2011. Retrieved 5 February 2008.
9. National Cancer Institute (27 June 2005). "Paget's Disease of the Nipple: Questions and Answers". Archived from the original on 10 April 2008. Retrieved 6 February 2008.
10. www.answers.com. "Oncology Encyclopedia: CystosarcomaPhyllodes". Archived from the original on 8 September 2010. Retrieved 10 August 2010.
11. Lacroix M, Significance, detection and markers of disseminated breast cancer cells, Endocrine Related Cancer, 2006; 13(4):1033–67.
12. Breast cancer. emedicinehealth. 2010. [20 Mar 2010]. http://www.emedicinehealth.com/breast_cancer/page2_em.htm .
13. Fletcher S. W. Patient information: Risk factor for breast cancer. Up-To-Date. 2008. Jan 29, [20 Mar 2010]. http://www.utdol.com/patients/content/topic.do?topicKey=~_rZvVFHbEjbw
14. Tiernan A. M. Behavioral risk factor in breast cancer: Can risk be modified, Oncologist, 2003; 8(4):326–334.
15. Definite breast cancer risks. CancerHelp UK. 2008. Sep 26, [20 Mar 2010]. http://www.cancerhelp.org.uk/type/breast-cancer/about/risks/definite-breast-cancer-risks.
16. Cavalieri E, Chakravarti D, Guttenplan J, Hart E, Ingle J, Jankowiak R, Muti P, Rogan E, Russo J, Santen R, Sutter T, Catechol estrogen quinones as initiators of breast and other human cancers: implications for biomarkers of susceptibility and cancer prevention, BiochimicaetBiophysicaActa, 2006; 1766(1):63-78.
17. Haslam SZ, Woodward TL, Host microenvironment in breast cancer development: epithelial-cell-stromal-cell interactions and steroid hormone action in normal and cancerous mammary gland, Breast Cancer Res, 2003; 5(4):208-15.
18. Wiseman BS, Werb Z, Stromal effects on mammary gland development and breast cancer, Science, 2002; 296 (5570):1046-9.
19. Jardé T, Perrier S, Vasson MP, Caldefie-Chézet F, Molecular mechanisms of leptin and adiponectin in breast cancer, Eur. J. Cancer, 2011; 47(1):33-43.
20. Dunning AM, Healey CS, Pharoah PD, Teare MD, Ponder BA, Easton DF, A systematic review of genetic polymorphisms and breast cancer risk, Cancer Epidemiology, Biomarkers & Prevention, 1999; 8(10):843-54.
21. Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C, Bernstein JL, Variation of breast cancer risk among BRCA1/2 carriers, JAMA, 2008; 299(2):194-201.
22. Patel KJ, Yu VP, Lee H, Corcoran A, Thistlethwaite FC, Evans MJ, Colledge WH, Friedman LS, Ponder BA, Venkitaraman AR, Involvement of Brca2 in DNA repair, Mol. Cell, 1998; 1(3):347-57.
23. Marietta C, Thompson LH, Lamerdin JE, Brooks PJ, Acetaldehyde stimulates FANCD2 monoubiquitination, H2AX phosphorylation, and BRCA1 phosphorylation in human cells in vitro: implications for alcohol-related carcinogenesis, Mutat. Res, 2009; 664(1–2):77-83.
24. Theruvathu JA, Jaruga P, Nath RG, Dizdaroglu M, Brooks PJ, Polyamines stimulate the formation of mutagenic 1,N2-propanodeoxyguanosine adducts from acetaldehyde, Nucleic Acids Res, 2005; 33(11):3513–20.
25. Holly Yan (2013-05-14). "What's the gene that led to Angelina Jolie's double mastectomy?". Health. CNN.
26. "BRCA1 and BRCA2: Cancer Risk and Genetic Testing". National Cancer Institute. 29 May 2009.
27. Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, Palomares MR, Lowstuter KJ, MacDonald DJ, Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer, Journal of the American Medical Association, 2007; 297(23): 2587-2595.
28. Kurian AW, Sigal BM, Plevritis SK, Survival analysis of cancer risk reduction strategies forBRCA1/2 mutation carriers, J ClinOncol, 2010; 28(2): 222-31.
29. Fishman A, The effects of parity, breastfeeding, and infertility treatment on the risk of hereditary breast and ovarian cancer: a review, Int. J. Gynecol. Cancer, 2010; 20(11 Suppl 2):S31-3.
30. Pal T, Keefe D, Sun P, Narod SA, Fertility in women with BRCA mutations: a case-control study, Fertil. Steril, 2010; 93 (6):1805-8.
31. Broer S.L, Broekmans F. J. M., Laven, J. S. E, Fauser B. C. J. M, Anti-Mullerian hormone: ovarian reserve testing and its potential clinical implications, Human Reproduction Update, 2014; 20 (5):688-701.
32. Oktay K, Kim JY, Barad D, Babayev SN, Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks, J ClinOncol, 2010; 28 (2):240-4.
33. Moslehi R, Singh R, Lessner L, Friedman JM, Impact of BRCA mutations on female fertility and offspring sex ratio, Am J Hum Biol, 2010; 22 (2):201-5.
34. Balmaña, Judith; Díez, Orland; Campos, Berta; Majewski, Magdalena; Sanz, Judit; Alonso, Carmen; Baiget, Montserrat; Garber, Judy E, Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?, Breast Cancer Research and Treatment, 2005; 92 (3):273-277.
35. Agnese D M, Battle of the BRCA1/BRCA2 (offspring) sex ratios: truth or consequences, Journal of Medical Genetics, 2006; 43 (3):201-202.
36. Morris, Joi L.; Gordon, Ora K, Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer. Amherst, N.Y. Prometheus Books, 2010; ISBN 978-1-59102-776-8.
37. Kotsopoulos J, Lubisnki J, Salmena L, et al., Breastfeeding and the Risk of Breast Cancer in BRCA1 andBRCA2 Mutation Carriers, Breast Cancer Res, 2012; 14 (2):R42.
38. Hamel PJ (2007-05-29). "BRCA1 and BRCA2: No Longer the Only Troublesome Genes Out There". HealthCentral. Retrieved 2010-07-02.
39. "OrthoMaM phylogenetic marker: BRCA2 coding sequence"
40. Duncan JA, Reeves JR, Cooke TG, BRCA1 and BRCA2 proteins: roles in health and disease, Molecular Pathology, 1998; 51 (5):237-47.
41. Yoshida K, Miki Y, Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage, Cancer Science, 2004; 95 (11): 866-71.
42. Check W (2006-09-01). "BRCA: What we know now". College of American Pathologists. Retrieved 2010-08-23.
43. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J, BASC a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures, Genes Dev, 2000; 14 (8):927-39.
44. Friedenson B, The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers, BMC Cancer, 2007; 7:152.
45. Starita LM, Parvin JD, The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair, Current Opinion in Cell Biology, 2003; 15 (3):345-350.
46. Cortez, D., Wang, Y., Qin, J., Elledge, S.J, Requirement of ATM-dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks, Science, 1999; 286(5442):1162-1166.
47. National Center for Biotechnology Information, U.S. National Library of Medicine Entrez Gene reference information for BRCA1 breast cancer 1, early onset (Homo sapiens)
48. "Genetics". Breastcancer.org. 2012-09-17.
49. Mazoyer S, Genomic rearrangements in the BRCA1 and BRCA2 genes, Hum. Mutat, 2005; 25 (5):415-22.
50. Barrois M, Bièche I, Mazoyer S, Champème MH, Bressac-de Paillerets B, Lidereau R, Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families, Clin. Genet, 2004; 65 (2):131-6.
51. Hogervorst FB, Nederlof PM, Gille JJ, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van't Veer LJ, Pals G, Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method, Cancer Res, 2003; 63 (7):1449-53.
52. Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M, Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments, Hum. Mutat, 2002; 20 (3):218-26.
53. Rouleau E, Lefol C, Tozlu S, Andrieu C, Guy C, Copigny F, Nogues C, Bieche I, Lidereau R, High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1, Clin. Genet, 2007; 72 (3):199-207.
54. Tapia T, Smalley SV, Kohen P, Muñoz A, Solis LM, Corvalan A, Faundez P, Devoto L, Camus M, Alvarez M, Carvallo P, Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors, Epigenetics, 2008; 3(1):157-63.
55. Shen J, Ambrosone CB, Zhao H, Novel genetic variants in microRNA genes and familial breast cancer, Int. J. Cancer, 2009; 124 (5):1178-82.
56. Levin B, Lech D, Friedenson B, Evidence that BRCA1- or BRCA2-associated cancers are not inevitable, Mol Med, 2012; 18 (9):1327-37.
57. Wilson CA, Ramos L, Villaseñor MR, Anders KH, Press MF, Clarke K, Karlan B, Chen JJ, Scully R, Livingston D, Zuch RH, Kanter MH, Cohen S, Calzone FJ, Slamon DJ, Localization of human BRCA1 and its loss in high-grade, non-inherited breast carcinomas, Nat. Genet, 1999; 21 (2):236-40.
58. Mueller CR, Roskelley CD, Regulation of BRCA1 expression and its relationship to sporadic breast cancer, Breast Cancer Res, 2003; 5 (1):45-52.
59. Jacinto FV, Esteller M, Mutator pathways unleashed by epigenetic silencing in human cancer, Mutagenesis, 2007; 22 (4):247-53.
60. Sun C, Li N, Yang Z, Zhou B, He Y, Weng D, Fang Y, Wu P, Chen P, Yang X, Ma D, Zhou J, Chen G, miR-9 regulation of BRCA1 and ovarian cancer sensitivity to cisplatin and PARP inhibition, J. Natl. Cancer Inst, 2013; 105 (22):1750-8.
61. McMillen BD, Aponte MM, Liu Z, Helenowski IB, Scholtens DM, Buttin BM, Wei JJ, Expression analysis of MIR182 and its associated target genes in advanced ovarian carcinoma, Mod. Pathol, 2012; 25 (12):1644-53.
62. Brody LC, Biesecker BB, Breast cancer susceptibility genes. BRCA1 and BRCA2, Medicine (Baltimore), 1998; 77 (3):208-26.
63. Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM, Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas, Clin Cancer Res, 2014; 20(3):764-75.
64. Esteller M, Silva JM, Dominguez G, Bonilla F, Matias-Guiu X, Lerma E, Bussaglia E, Prat J, Harkes IC, Repasky EA, Gabrielson E, Schutte M, Baylin SB, Herman JG, Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors, J. Natl. Cancer Inst, 2000; 92 (7):564-9.
65. "OrthoMaM phylogenetic marker: BRCA2 coding sequence"
66. Tavtigian, S.V., Simard, J., Rommens, J., Couch, F., Shattuck- Eidens, D., Neuhausen, S., Merajver, S., Thorlacius, S., Offit, K., Stoppa-Lyonnet, D., et al., The complete BRCA2 gene and mutations in chromosome 13q linked kindreds, Nat. Genet, 1996; 12(3):333-337.
67. Chen, J.J., Silver, D., Cantor, S., Livingston, D.M., Scully, R., BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathway, Cancer Res, 1999; 59 (7):1752-1756.
68. Lakhani, S.R., van de Vijver, M.J., Jacquemier, J., Anderson,T.J., Osin, P.P., McGuffog, L., Easton, D.F., The pathology of familial breast cancer: Predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2, J. Clin. Oncol, 2002; 20(9):2310-2318.
69. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13, Science, 1994; 265 (5181):2088-90.
70. Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2, Mol. Cell, 2006; 22 (6):719-29.
71. Buisson R, Dion-Côté AM, Coulombe Y, Launay H, Cai H, Stasiak AZ, Stasiak A, Xia B, Masson JY, Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination, Nature Structural & Molecular Biology, 2010; 17(10):1247-54.
72. Mijic, Sofija; Zellweger, Ralph; Chappidi, Nagaraja; Berti, Matteo; Jacobs, Kurt; Mutreja, Karun; Ursich, Sebastian; Chaudhuri, Arnab Ray; Nussenzweig, Andre, Replication fork reversal triggers fork degradation in BRCA2-defective cells, Science, 2017; 8(1).
73. Holloman WK, Unraveling the mechanism of BRCA2 in homologous recombination, Nat. Struct. Mol. Biol, 2011; 18 (7):748-54.
74. Chun J, Buechelmaier ES, Powell SN, Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway, Mol. Cell. Biol, 2013; 33 (2):387-95.
75. Egawa C, Miyoshi Y, Taguchi T, Tamaki Y, Noguchi S, High BRCA2 mRNA expression predicts poor prognosis in breast cancer patients, Int. J. Cancer, 2002; 98 (6):879-82.
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