Genetics of breast cancer: Contribution of BRCA1/2 genes alterations to hereditary predisposition;Genetika karcinoma dojke: Alteracije BRCA1/2 gena i njihov doprinos naslednoj predispoziciji

Vojnosanitetski Pregled

Volumn 69, Issue 8, 2012, Pages 700-706

  Branković Magić, Mirjana ^a   Dobričić, Jelena ^a   Krivokuća, Ana ^a  

^a INSTITUTE FOR ONCOLOGY AND RADIOLOGY OF SERBIA   (Serbia)

Author keywords

Brca1; Brca2; Breast neoplasms; Genes; Genetic predisposition to disease; Mutation

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; OLAPARIB;

BRCA2 GENE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER GENETICS; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CANCER SURGERY; DISEASE ACTIVITY; DISEASE PREDISPOSITION; DRUG TARGETING; FRAMESHIFT MUTATION; GENE FUNCTION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; MASTECTOMY; MEDICAL INFORMATION; MOLECULAR PATHOLOGY; ONCOGENE; OVARY CANCER; PATIENT EDUCATION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; RISK BENEFIT ANALYSIS; RISK REDUCTION;

BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION;

EID: 84865994252     PISSN: 00428450     EISSN: None     Source Type: Journal    
DOI: 10.2298/VSP110421014B     Document Type: Review

References (54)

1. Sifri R, Gangadharappa S, Acheson LS. Identifying and testing for hereditary susceptibility to common cancers. CA Cancer J Clin 2004; 54(6): 309-26.
2. Lindor NM, McMaster ML, Lindor CJ, Greene MH. Concise Handbook of Familial Cancer Susceptibility Syndromes, 2nd ed. J Natl Cancer Inst Monogr 2008; 38: 1-93.
3. Thodi G, Fostira F, Sandaltzopoulos R, Nasioulas G, Grivas A, Boukovinas I, et al. Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. BMC Cancer 2010; 10: 544.
4. Eng C. Mendelian genetics of rare--and not so rare--cancers. Ann N Y Acad Sci 2010; 1214: 70-82.
5. Jovićević Bekić A. Epidemiology and prevention of breast cancer. In: Nešković-Konstantinović Z, Borojević N, Vučković-Dekić Lj, editors. 2nd ed. Updates in epidemiology and prevention of breast cancer. Belgrade: Akademija medicinskih nauka Srpskog lekarskog društva; 2008. p. 11-24. (Serbian)
6. Ferlay J, Parkin DM, Steliarova-Foucher E. Estimates of cancer incidence and mortality in Europe in 2008. Eur J Cancer 2010; 46(4): 765-81.
7. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004; 4(9): 665-76.
8. Lindor NM, McMaster M, Lindor CJ, Greene MH. 6. Breast/Ovarian Cancer, Hereditary (BRCA1). In: Lindor NM, McMaster LM, Lindor CJ, Greene MH, editors. 2nd ed. Concise handbook of familial cancer susceptibility syndromes. J Natl Cancer Inst Monogr 2008. p. 22-7.
9. Lindor NM, McMaster M, Lindor CJ, Greene MH. 7. Breast/Ovarian Cancer, Hereditary (BRCA2). In: Lindor NM, McMaster LM, Lindor CJ, Greene MH, editors. 2nd ed. Concise handbook of familial cancer susceptibility syndromes. J Natl Cancer Inst Monogr 2008. p. 27-9.
10. Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell 2007; 11(2): 103-5.
11. McClellan J, King MC. Genetic heterogeneity in human disease. Cell 2010; 141(2): 210-7.
12. Papp J, Raicevic L, Milasin J, Dimitrijevic B, Radulovic S, Olah E. Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families. Oncol Rep 1999; 6(6): 1435-8.
13. Konstantopoulou I, Jankovic R, Raicevic L, Ladopoulou A, Armanou S, Nikolopoulos G, et al. BRCA1 and BRCA2 genes mutation analysis in patients with a family history of breast and ovarian cancer. Jugoslav Med Biochem 2004; 23: 271-7.
14. Branković-Magić M. BRCA testing in Serbia and Montenegro. Hered Ca Clin Pract 2006; 4: 12-4.
15. Branković-Magić M, Dobričić J, Janković R, Konstantinopoulou I, Yannoukakos D, Radulović S. Identifying and testing for hereditary susceptibility to breast/ovarian cancer in Serbia: Where are we now? Arch Oncol 2006; 14(3-4): 131-5.
16. Dobričić J, Branković-Magić M, Filipović S, Radulović S. Novel BRCA1/2 mutations in Serbian breast and breast-ovarian cancer patients with hereditary predisposition. Cancer Genet Cytogenet 2010; 202: 27-32.
17. Hennessy BT, Timms KM, Carey MS, Gutin A, Meyer LA, Flake DD 2nd, et al. Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer. J Clin Oncol 2010; 28(22): 3570-6.
18. Ferla R, Calò V, Cascio S, Rinaldi G, Badalamenti G, Carreca I, et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 2007; 18 Suppl 6: vi93-8.
19. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1994; 8(4): 392-8.
20. Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 1996; 14(2): 188-90.
21. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996; 13(1): 117-9.
22. Al-Mulla F, Bland JM, Serratt D, Miller J, Chu C, Taylor GT. Agedependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol 2009; 62(4): 350-6.
23. Meza JE, Brzovic PS, King MC, Klevit RE. Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1. J Biol Chem1999; 274(9): 5659-65.
24. Huen MS, Sy SM, Chen J. BRCA1 and its toolbox for the maintenance of genome integrity. Nat Rev Mol Cell Biol 2010; 11(2): 138-48.
25. Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, et al Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer 2009; 101(12): 2048-54.
26. Antoniou AC, Beesley J, MCGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, et al. Common breast cancer susceptibility allels and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implication for risk prediction. Cancer Res 2010; 70(23): 9742-54.
27. Palanca Suela S, Esteban Cardeñosa E, Barragán González E, de Juan Jiménez I, Chirivella González I, Segura Huerta A, et al. CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. Breast Cancer Res Treat 2010; 119(1): 87-93.
28. Antoniou AC, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005; 42(7): 602-3.
29. 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(5): 1117-30.
30. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997; 336(20): 1401-8.
31. Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2004; 22(12): 2328-35.
32. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 2004; 22(4): 735-42.
33. Branković-Magić M, Janković R, Radulović S. Hereditary breast cancer: Role of BRCA genes. In: Nešković-Konstantinović Z, Borojević N, Vučković-Dekić Lj, editors. Updates in epidemiology and prevention of breast cancer. 2nd ed. Belgrade: Akademija medicinskih nauka Srpskog lekarskog društva; 2008. p. 11-24. (Serbian)
34. Balmaña J, Diez O, Rubio I, Castiglione M; ESMO Guidelines Working Group. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2010; 21(Suppl 5): v20-2.
35. Radice P, De Summa S, Caleca L, Tommasi S. Unclassified variants in BRCA genes: guidelines for interpretation. Ann Oncol 2011; 22(Suppl 1): i18-23.
36. Di Pietro ML, Giuli A, Spagnolo AG. Ethical implications of predictive DNA testing for hereditary breast cancer. Ann Oncol 2004; 15(Suppl 1): I65-I70.
37. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010; 28(5): 893-901.
38. Turaga K, Acs G, Laronga C. Gene expression profiling in breast cancer. Cancer Control 2010; 17(3): 177-82.
39. Stefansson OA, Jonasson JG, Johannsson OT, Olafsdottir K, Steinarsdottir M, Valgeirsdottir S, et al. Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes. Breast Cancer Res 2009; 11(4): R47.
40. Young SR, Pilarski RT, Donenberg T, Shapiro C, Hammond LS, Miller J, et al. The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer 2009; 9: 86.
41. Honrado E, Benítez J, Palacios J. The pathology of hereditary breast cancer. Hered Cancer Clin Pract 2004; 2(3): 131-8.
42. Palacios J, Robles-Frías MJ, Castilla MA, López-García MA, Benítez J. The molecular pathology of hereditary breast cancer. Pathobiology 2008; 75(2): 85-94.
43. Tung N, Wang Y, Collins LC, Kaplan J, Li H, Gelman R, et al. Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic features. Breast Cancer Res 2010; 12(1): R12.
44. Elsakov P, Foretova L, Goetz P, de Groot JWB, van der Graaf WTA, Guler G, et al. Discussion on the use of taxanes for treatment of breast cancers in BRCA1 mutations carriers. Hered Cancer Clin Pract 2007; 5(3): 119-43.
45. Konstantinopoulos PA, Spentzos D, Karlan BY, Taniguchi T, Fountzilas E, Francoeur N, et al. Gene expression profile of BRCAness that correlates with responsiveness to chemotherapy and with outcome in patients with epithelial ovarian cancer. J Clin Oncol 2010; 28(22): 3555-61.
46. Yap TA, Sandhu SK, Carden CP, de Bono JS. Poly(ADP-ribose) polymerase (PARP) inhibitors: Exploiting a synthetic lethal strategy in the clinic. CA Cancer J Clin 2011; 61(1): 31-49.
47. Audeh MW, Carmichael J, Penson RT, Friedlander M, Powell B, Bell-McGuinn KM, Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 2010; 376(9737): 245-51.
48. Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010; 376(9737): 235-44.
49. Narod SA. Personalized medicine: a personal view. Curr Oncol 2010; 17(5): 4-5.
50. Branković-Magić M, Janković R, Ristanović M. Management of individuals at risk for hereditary breast and ovarian cancer. Srp Arh Celok Lek 2003; 131(7-8): 345-50. (Serbian)
51. Trop I, Lalonde L, Mayrand MH, David J, Larouche N, Provencher D. Multimodality breast cancer screening in women with a familial or genetic predisposition. Curr Oncol 2010; 17(3): 28-36.
52. Silva E, Gatalica Z, Snyder C, Vranic S, Lynch JF, Lynch HT. Hereditary breast cancer: part II. Management of hereditary breast cancer: implications of molecular genetics and pathology. Breast J 2008; 14(1): 14-24.
53. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van 't Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004; 22(6): 1055-62.
54. Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingooophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 2009; 101(2): 80-7.