Join us   Log in  


Pages: 1105-1118
Print Article   Download XML  Download PDF

Genetics of Breast Cancer Among Moroccan Women: a Literature Review

Author: Chaimaa Mounjid, Hind M'rabti, Abdelilah Laraqui, Oubaida Elbiad, Yassine Sekhsokh, Tahar Bajjou, Farida Hilali, Hajar El Agouri, Imad Lhafiane, Bouabid Badaoui, Amine Souadka, Basma El Khannoussi, Youssef Bakri, Hassan Errihani

Category: JMSR Oncology


Introduction: Breast cancer (BC) is a heterogeneous disease defined by the accumulation of various molecular alterations that accord each tumor a specific phenotype. Our study aimed to summarize all studies conducted on genetic alterations associated with BC in Moroccan women. Methods: We systematically searched literature databases from the time of inception until 31 August 2021 to collect information concerning the mutation spectrum for BC in Morocco. Results: We identified twenty-three studies including 1858 cases. According to our literature search, twenty-nine mutations were detected in 92/468 (19, 66%) patients for BRCA1/BRCA2 genes. We captured eighteen mutations dispersed in the exons 2, 3, 5, 11, 16, 17, 18, and 20 of the BRCA1 gene (c.68_69delAG, c.116G>A, c.181T>G, c.798_799delTT, c.3279delC, c.2805delA, c.1016dupA, c.2126insA, c.3453delT, c.2884C>T, c.2596C>T, c.2612C>T, c.1186A>G, c. 1100A>G, c.4942A>T, c.5062-5064delGTT, c.5095C>T and c.5309G>T). Moreover, eleven mutations dispersed in the exons 3, 10, 11, and 14 and intron 6 of the BRCA2 gene were detected (c.289G>T, c.1310_1313delAAGA, c.3381delT, c.5073dupA, c.5116_5119delAATA, c.6322C>T, c.3847_3848delGT, c.5576-5579delTTAA, c.7110delA, c.7235inG and c.517-1G>A). A few case-control studies have focused on the association of polymorphisms (SNPs) with the genetic susceptibility of developing BC in Moroccan cases in other genes. A significant association between MTHFR 677T allele ( OR: 2.49, 95% CI: 1.17–5.29, p?=?0.017), TP53 72Pro variant (OR 2.2, 95% CI 1.07-4.54, p = 0.03), CYP2D6*3variant (OR=2.08, CI 1.28-3.39, p=0.003) and the risk of developing BC was observed. Additionally, the rs1799793 ERCC2 polymorphism, four SNPs in APOBEC3B, and one SNP in APOBEC3A were significantly associated with BC risk (p?0.05). Conclusion: This review will allow updating the Moroccan Human Mutation Database. However, large studies including more mutations and polymorphisms are required to determine the prevalence of these mutations in the Moroccan population. This could be very beneficial to guide specific and more effective therapeutic strategies in our country.

Keywords: Breast cancer, BRCA1, BRCA2, genetic alterations, Morocco.

DOI: 10.46327/msrjg.1.000000000000224



1. Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, , Donald M , Parkin DF, Bray F. Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012: Globocan 2012. Int J Cancer. 1 mars 2015;136 (5):E359?86.

2. Bray F, Ren J-S, Masuyer E, Ferlay J. Global estimates of cancer prevalence for 27 sites in the adult population in 2008. Int J Cancer. 1 mars 2013;132 (5):1133?45.

3. Khalis M, El Rhazi K, Charaka H, Chajès V, Rinaldi S, Nejjari Ch, Romieu I, Charbotel B. Female Breast Cancer Incidence and Mortality in Morocco: Comparison with Other Countries. Asian Pac J Cancer Prev. 2016 Dec 1;17(12):5211-5216.

4. Cancer incidence in five continents. Volume IX. IARC Sci Publ. 2008;(160):1-837. PMID: 19388204.

5. Rouzier R. Breast Cancer Molecular Subtypes Respond Differently to Preoperative Chemotherapy. Clin Cancer Res. 15 août 2005;11(16):5678?85.

6. Blows FM, Driver KE, Schmidt MK, Broeks A, van Leeuwen FE, Wesseling J, Cheang MC, Gelmon K, Nielsen TO, Blomqvist C, Heikkilä P, Heikkinen T, Nevanlinna H, Akslen LA, Bégin LR, Foulkes WD, Couch FJ, Wang X, Cafourek V, Olson JE, et al.. Subtyping of Breast Cancer by Immunohistochemistry to Investigate a Relationship between Subtype and Short and Long Term Survival: A Collaborative Analysis of Data for 10,159 Cases from 12 Studies. Marincola FM, éditeur. PLoS Med. 25 mai 2010;7(5):e1000279.

7. de Ruijter TC, Veeck J, de Hoon JPJ, van Engeland M, Tjan-Heijnen VC. Characteristics of triple-negative breast cancer. J Cancer Res ClinOncol. févr 2011;137(2):183?92.

8. Slaoui M, Razine R, Ibrahimi A, Attaleb M, El Mzibri M, Amrani M. Breast Cancer in Morocco: A Literature Review. Asian Pac J Cancer Prev. 1 févr 2014;15(3):1067?74.

9. Lynch HT, Albano WA, Danes BS, Layton MA, Kimberling WJ, Lynch JF, Cheng SC, Costello KA, Mulcahy GM, Wagner CA: Genetic predisposition to breast cancer. Cancer. 1984; 53(2): 612-622.

10. Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1 juin 1996;77(11):2318?24.

11. Robson ME, Boyd J, Borgen PI and Cody HS IIIrd: Hereditary breast cancer. CurrProbl Surg. juin 2001; 38 (6) : 387?480.

12. Risch HA, McLaughlin JR, Cole DEC, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA. Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada. JNCI J Natl Cancer Inst. 6 déc 2006;98(23):1694?706.

13. de Sanjosé S, Léoné M, Bérez V, Izquierdo A, Font R, Brunet JM, Louat T, Vilardell L, Borras J, Viladiu P, Bosch FX, Lenoir GM, Sinilnikova OM. Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study: BRCA and Breast Cancer in Young Women. Int J Cancer. 10 sept 2003;106(4):588?93.

14. Tazzite A, Nadiffi S, Kottwitz D, El Amrani M, Jouhadi H, Benider A, Moumen A, Sefrioui H. Specific BRCA1 gene variations amongst young Moroccan breast cancer patients. Genet Mol Res. 2014;13(1):791?8.

15. Bonadona V, Lasset C. Prédispositions héréditaires au cancer du sein: après BRCA1 et BRCA2, quel(s) autre(s) gène(s)?. Bull Cancer. Jul2003;90(7):587-94.

16. Buchholz TA, Wazer DE. Molecular biology and genetics of breast cancer development: A clinical perspective. SeminRadiatOncol. oct 2002;12(4):285?95.

17. Pecorino, L. Molecular biology of cancer: mechanisms, targets, and therapeutics. (Oxford University Press, 2005).

18. Shiovitz S, Korde LA. Genetics of breast cancer: a topic in evolution. Ann Oncol [Internet]. 20 janv 2015 [cité 28 avr 2019]; Disponible sur:

19. Laraqui A, Uhrhammer N, Lahlou-Amine I, Rhaffouli HE, Baghdadi JE, Dehayni M, et al. Mutation Screening of the BRCA1 Gene in Early Onset and Familial Breast/Ovarian Cancer in Moroccan Population. Int J Med Sci. 2013;10(1):60?7.

20. Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA. BRCA1 and BRCA2 germline mutations in Moroccan breast/ ovarian cancer families: novel mutations and unclassified variants. GynecolOncol. 2012;125:687–92.

21. El Ansari FZ, Jouali F, Marchoudi N, Bennani MM, Ghailani NN, Barakat A, Fekkak J. Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC). BMC Cancer. 2020 Aug 10;20(1):747.

22. Bakkach J, Mansouri M, Derkaoui T, Loudiyi A, El Fahime E, Barakat A, Nourouti NG, Villarreal JMD, Bringas CC, Mechita MB. Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco. BMC Cancer [Internet]. déc 2020 [cité 28 mars 2021];20(1). Disponible sur:

23. Laarabi FZ, Jaouad IC, Ouldim K, Aboussair N, Jalil A, Gueddari BEKE, Benjaafar N, Sefiani A. Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer. OncolLett. mars 2011;2(2):389?93.

24. Quiles F, Teuléà.,MartinussenTandstad N, Feliubadaló L, Tornero E, Valle DJ, Menéndez M, Salinas M, Rognlien VW , A Velasco 1, A Izquierdo 1, G Capellá 1, J Brunet 1, C Lázaro 3. Identification of a founder BRCA1 mutation in the Moroccan population: Identification of a founder BRCA1 mutation. Clin Genet. oct 2016;90(4):361?5.

25. El Khachibi M, Diakite B, Hamzi K, Badou A, Senhaji MA, Bakhchane A, Jouhadi H, Barakat A, Benider A, Nadifi S. Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients. BMC Cancer [Internet]. déc 2015 [cité 14 mai 2019];15(1). Disponible sur:

26. Ibrahim Khalil A, Bendahhou K, Rhouda T, Lyahyai J, Qachach F, Zrhidri A, Natiq A, Benider A, Mestaghanmi H. Variation of exon 11 of the BRCA1 gene in patients with familial breast cancer at Mohammed VI center for treatment of cancers. Gene Rep. sept 2018;12:243?7.

27. Jouali F, Laarabi F-Z, Marchoudi N, Ratbi I, Elalaoui SC, Rhaissi H, Fekkak J, Sefiani A. First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene. OncolLett. août 2016;12(2):1192?6.

28. Laarabi F-Z, Ratbi I, Elalaoui SC, Mezzouar L, Doubaj Y, Bouguenouch L, Ouldim K, Benjaafar N, and Sefiani A. High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control. BMC Res Notes [Internet]. déc 2017 [cité 18 mai 2019];10(1). Disponible sur:

29. Rahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S. Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case–control study. Med Oncol [Internet]. sept 2014 [cité 18 mai 2019];31(9). Disponible sur:

30. Diakite B, Tazzite A, Hamzi K, Jouhadi H, Nadifi S. MethylenetetrahydrofolateReductase C677T polymorphism and breast cancer risk in Moroccan women. AfrHealthSci [Internet]. 24 juill 2012 [cité 15 avr 2019];12(2). Disponible sur:

31. Hardi H, Melki R, Boughaleb Z, El Harroudi T, Aissaoui S, Boukhatem N. Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study. BMC Cancer [Internet]. déc 2018 [cité 15 avr 2019];18(1). Disponible sur:

32. Ayoubi SE, Elkarroumi M, El Khachibi M, Hassani Idrissi H, Ayoubi H, Ennachit S, Arazzakou MC, Nadifi S. The 72Pro Variant of the Tumor Protein 53 Is Associated with an Increased Breast Cancer Risk in the Moroccan Population. Pathobiology. 2018;85(4):247?53.

33. Marouf C, Hajji O, Diakité B, Tazzite A, Jouhadi H, Benider A, and Nadfi S. The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population. SpringerPlus [Internet]. déc 2015 [cité 19 mai 2019];4(1). Disponible sur:

34. Marouf C, Göhler S, Filho MIDS, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population. BMC Cancer [Internet]. déc 2016 [cité 15 avr 2019];16(1). Disponible sur:

35. Jouali F, Marchoudi N, Talbi S, Bilal B, El Khasmi M, Rhaissi H, and Fekkak J. Detection of PIK3/AKT pathway in Moroccan population with triple negative breast cancer. BMC Cancer [Internet]. déc 2018 [cité 19 mai 2019];18(1). Disponible sur:

36. Elouilamine E, El Akil S, Aznag FZ, Izaabel EH. CYP2C19 gene polymorphisms among Moroccan patients with breast cancer disease: A case-control study. Gene Rep. juin 2020;19:100610.

37. Elouilamine E, El Akil S, Aznag FZ, Izaabel EH. CYP2D6 gene polymorphisms and breast cancer risk in Moroccan population: A case-control study. Gene Rep. sept 2020;20:100768.

38. Marouf C, Tazzite A, Diakité B, Jouhadi H, Benider A, Nadifi S. Association of TP53 PIN3 polymorphism with breast cancer in Moroccan population. Tumor Biol. déc 2014;35(12):12403?8.

39. Marouf C, Hajji O, Tazzite A, Jouhadi H, Benider A, Nadifi S. Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women: A meta-analysis. Egypt J Med Hum Genet. oct 2017;18(4):329?34.

40. Tazzite A, Kassogue Y, Diakité B, Jouhadi H, Dehbi H, Benider A, and Nadifi S. Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis. BMC Genet [Internet]. déc 2016 [cité 19 mai 2019];17(1). Disponible sur:

41. Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Dib AB, Bignon Y-J. BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases. Int J Med Sci. 2008;197?202.

42. Cherbal F, Bakour R, Adane S, Boualga K, Benais-Pont G, Maillet P. BRCA1 and BRCA2 Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families. Dis Markers. 2010;28(6):377?84.

43. Mahfoudh W, Bouaouina N, Ahmed SB, Gabbouj S, Shan J, Mathew R, Uhrhammer N, Bignon YJ, Troudi W, Elgaaied AB, Hassen E, Chouchane L. Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. MolBiol Rep. févr 2012;39(2):1037?46.

44. Abbad A, Baba H, Dehbi H, Elmessaoudi-Idrissi M, Elyazghi Z, Abidi O, Radouani F.. Genetics of breast cancer in African populations: a literature review. GlobHealthEpidemiolGenomics [Internet]. 2018 [cité 14 mai 2019];3. Disponible sur:

45. John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 2007 Dec 26;298(24):2869-76.

46. Russo A, Calò V, Agnese V, Bruno L, Corsale S, Augello C, Gargano G, Barbera F, Cascio S, Intrivici C, Rinaldi G, Gulotta G, Macaluso M, Surmacz E, Giordano A, Gebbia N, Bazan V. BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses. Breast Cancer Res Treat. 27 sept 2007;105(3):267?76.

47. Muller D, Bonaiti-Pelié C, Abecassis J, Stoppa-Lyonnet D, Fricker J-P. BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. Fam Cancer. 2002;3(1):15?20.

48. Struewing JP, Abeliovich D Fau - Peretz T, Peretz T Fau - Avishai N. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genetics. oct 1995;11:198–200.

49. Bar-Sade R. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet. 1 mai 1998;7(5):801?5.

50. Dillenburg CV, Bandeira IC, Tubino TV, Rossato LG, Dias ES, Bittelbrunn AC, Leistner-Segal S. Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil. Genet Mol Biol. 2012;35(3):599?602.

51. Ibrahim SS, Hafez EE, Hashishe MM. Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection. J Exp Clin Cancer Res [Internet]. déc 2010 [cité 14 mai 2019];29(1). Disponible sur:

52. El-Debaky F.S, Azab N. I, Alhusseini N. F, Eliwa S. K, and Musalam H.R. Breast cancer gene 1 (Brca 1) mutation in female patients with or without family history in Qalubia Governorate. Journal of American Science. 2011;7(2):82–93.

53. Laraqui A, Uhrhammer N, Rhaffouli HE, Sekhsokh Y, Lahlou-Amine I, Bajjou T, Hilali F, El Baghdadi J, Al Bouzidi A, Bakri Y, Amzazi S, Bignon YJ. BRCA Genetic Screening in Middle Eastern and North African: Mutational Spectrum and Founder BRCA1 Mutation (c.798_799delTT) in North African. Dis Markers. 2015;2015:1?8.

54. Tudini E, Moghadasi S, Parsons MT, van der Kolk L, van den Ouweland AMW, Niederacher D, Feliubadaló L, Wappenschmidt B, Spurdle AB, Lazaro C.. Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val). Breast Cancer Res Treat. nov 2018;172(2):497?503.

55. Janavi?ius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J. sept 2010;1(3):397?412.

56. Cherbal F, Bakour R, Adane S, Boualga K. BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries. Breast Dis. 19 févr 2013;34(1):1?8.

57. Møller P, Heimdal K, Apold J, Fredriksen A, Borg A, Hovig E, Hagen A, Hagen B, Pedersen JC, Maehle L. Genetic epidemiology of BRCA1 mutations in Norway. Eur J Cancer. déc 2001;37(18):2428?34.

58. Malacrida S, Agata S, Callegaro M, Casella C, Barana D, Scaini MC, Manoukian S, Oliani C, Radice P, Barile M, Menin C, D'Andrea E, Montagna M. BRCA1 p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy. J ClinOncol. janv 2008;26(1):26?31.

59. Williams RS, Chasman DI, Hau DD, Hui B, Lau AY, Glover JNM. Detection of Protein Folding Defects Caused by BRCA1-BRCT Truncation and Missense Mutations. J Biol Chem. 26 déc 2003;278(52):53007?16.

60. Vallon-Christersson J. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet. 1 févr 2001;10(4):353?60.

61. Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN. Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis. Cancer Res. 15 févr2007;67(4):1494?501.

62. Anczuków O, Buisson M, Salles MJ, Triboulet S, Longy M, Lidereau R, Sinilnikova OM, Mazoyer S. Unclassified variants identified in BRCA1 exon 11: Consequences on splicing. Genes Chromosomes Cancer. mai 2008;47(5):418?26.

63. van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, et al. a DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat. 2006;27(7):654–66.

64. Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D. Sun W; development and validation of a next-generation sequencing assay for BRCA1 and BRCA2 variants for the clinical laboratory. PLoS One. 2015;10(8):e0136419.

65. Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P. BRCA1 and BRCA2 Unclassified Variants and Missense Polymorphisms in Algerian Breast/Ovarian Cancer Families. Dis Markers. 2012;32(6):343?53.

66. Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE. Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing. Peterlongo P, éditeur. PLoS ONE. 11 avr2014;9(4):e94554.

67. Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R; French BRCA GGC Consortium. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res. 1 janv 2012;40(D1):D992?1002.

68. Romdhane L, Kefi R, Azaiez H, Ben Halim N, Dellagi K, Abdelhak S. Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East. Orphanet J Rare Dis. 2012;7(1):52.

69. Younes N, Zayed H. Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review. Gene. févr 2019;684:154?64.

70. Zajkowska M, Lubowicka E, Malinowski P, Szmitkowski M, ?awicki S. Plasma levels of VEGF-A, VEGF B, and VEGFR-1 and applicability of these parameters as tumor markers in diagnosis of breast cancer. Acta Biochim Pol [Internet]. 13 déc 2018 [cité 18 mai 2019]; Disponible sur:

71. Gómez-Díaz B, DE LA Luz Ayala-Madrigal M, Gutiérrez-Angulo M, Valle-Solis AE, Linares-González LM, González-Guzmán R, Cruz-Guillén D, Cedeño-Garcidueñas AL, Canto P, López-Hernández LB. Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer. OncolLett. avr 2015;9(4):1657?61.

72. Shadrina AS, Ermolenko NA, Boyarskikh UA, Sinkina TV, Lazarev AF, Petrova VD, Filipenko ML. Polymorphisms in DNA repair genes and breast cancer risk in Russian population: a case–control study. ClinExp Med. févr 2016;16(1):21?8.

73. Zhang L, Zhang Z, Yan W. Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. ClinChimActa. sept 2005;359(1?2):150?5.

74. He BS, Xu T, Pan YQ, Wang HJ, Cho WC, Lin K, Sun HL, Gao TY, Wang SK. Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population. Oncotarget [Internet]. 20 déc 2016 [cité 18 mai 2019];7(51). Disponible sur:

75. Debniak T, Scott RJ, Huzarski T, Byrski T, Masoj? B, van de Wetering T, Serrano-Fernandez P, Górski B, Cybulski C, Gronwald J, Debniak B, Maleszka R, K?adny J, Bieniek A, Nagay L, Haus O, Grzybowska E, Wandzel P, Niepsuj S, Narod SA, et al. XPD Common Variants and their Association with Melanoma and Breast Cancer Risk. Breast Cancer Res Treat. juill 2006;98(2):209?15.

76. Zhao R, Ying MF. Association between ERCC1 and ERCC2 polymorphisms and breast cancer risk in a Chinese population. Genet Mol Res [Internet]. 2016 [cité 19 mai 2019];15(1). Disponible sur:

77. Iniesta MD, Gorin MA, Chien LC, Thomas SM, Milliron KJ, Douglas JA, Merajver SD. Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America. Cancer Genet Cytogenet. oct 2010;202(2):136?40.

78. Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H. A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer. Am J Hum Genet. août 2002;71(2):432?8.

79. Kreile M, Rots D, Piekuse L, Cebura E, Grutupa M, Kovalova Z, Lace B. Lack of Association between Polymorphisms in Genes MTHFR and MDR1 with Risk of Childhood Acute Lymphoblastic Leukemia. Asian Pac J Cancer Prev. 18 déc 2014;15(22):9707?11.

80. Fawzy MS, Awad HA, Ahmad HS, Kamel LM, Tom MM. Multi-drug resistance 1 genetic polymorphisms gene expression and prediction of chemotherapy response in breast cancer Egyptian patients. Egypt J BiochemMol Biol. 2014;32(1):75–98.

81. Kazemi M, Salehi Z, Chakosari RJ: TP53 codon 72 polymorphism and breast cancer in northern Iran. Oncol Res FeaturPreclinClin Cancer Ther 2009; 18: 25–30.

82. Proestling K, Hebar A, Pruckner N, Marton E, Vinatzer U, Schreiber M: The Pro allele of the p53 codon 72 polymorphism is associated with decreased intratumoral expression of BAX and p21, and increased breast cancer risk. PLoS One 2012; 7:e47325.

83. Yadav P, Masroor M, Tanwer K, Mir R, Javid J, Ahmad I, Zuberi M, Kaza RC, Jain SK, Khurana N, Ray PC, Saxena A. Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients. Clin TranslOncol. juill2016;18(7):728?34.

84. Noma C, Miyoshi Y, Taguchi T, Tamaki Y, Noguchi S. Association of p53 genetic polymorphism (Arg72Pro) with estrogen receptor positive breast cancer risk in Japanese women. Cancer Lett 2004; 210: 197–203.

85. Själander A, Birgander R, Hallmans G, Cajander S, Lenner P, Athlin L, Beckman G, Beckman L. p 53 polymorphisms and haplotypes in breast cancer. Carcinogenesis. 1996;17(6):1313?6

86. Hossain A, Murshid GMM, Zilani MNH, Islam F, Sultana R, Sultana T, Hossain MG, Rahman MM. TP53 codon 72 polymorphism and breast cancer risk in Bangladeshi population. Breast Cancer. juill 2017;24(4):571?8

87. Akkiprik M, Sonmez O, Gulluoglu BM, Caglar HB, Kaya H, Demirkalem P, Abacioglu U, Sengoz M, Sav A, Ozer A. Analysis of p53 Gene Polymorphisms and Protein Over-expression in Patients with Breast Cancer. PatholOncolRes. sept 2009;15(3):359?68.

88. Rodrigues P, Furriol J, Tormo E, Ballester S, Lluch A, Eroles P: Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival. Mol Cell Biochem 2013; 379:181–190.

89. Wang-Gohrke S, Rebbeck TR, Besenfelder W, Kreienberg R, Runnebaum IB: p53 germline polymorphisms are associated with an increased risk for breast cancer in German women. Anticancer Res 1998; 18: 2095–2099.

90. Weston A, Pan C, Ksieski HB, Wallenstein S, Berkowitz SG, Turtter PI, Bleiweiss IJ, Brower ST, Senie RT, Wolff MS: p53 haplotype determination in breast cancer. Cancer Epidemiol Biomarkers Prev 1997; 6: 105–112.

91. Franekova M,Zubor P, Stanclova A, Dussan CA, Bohussova T, Galo S, Dobrota D, Kajo K, Pec M, Racay P: Association of p53 polymorphisms with breast cancer: a case-control study in Slovak population. Neoplasma 2007; 54: 155–161.

92. Gonçalves ML, Borja SM, Cordeiro JA, Saddi VA, Ayres FM, Vilanova-Costa CA, Silva AM. Association of the TP53 codon 72 polymorphism and breast cancer risk: a meta-analysis. SpringerPlus. 2014;3(1):749

93. Arfaoui A, Douik H, Kablouti G, Chaaben AB, Handiri N, Zid Z, Ouni N, Zouiouch F, Ayari F, Mamoughli T, Bouassida J, Abazza H, Harzallaha L, Guemira F. Role of p53 Codon72 SNP in Breast Cancer Risk and Anthracycline Resistance. ANTICANCER Res. 2015;7

94. Krajinovic M, Ghadirian P, Richer C, Sinnett H, Gandini S, Perret C, Lacroix A, Labuda D, Sinnett D. Genetic susceptibility to breast cancer in French-Canadians: role of carcinogen-metabolizing enzymes and gene-environment interactions. Int. J. cancer 92, 220–5.<::aid-ijc1184>;2-h.

95. Wu D, Zhang Z, Chu H, Xu M, Xue Y, Zhu H, Zhang Z. Intron 3 Sixteen Base Pairs Duplication Polymorphism of P53 Contributes to Breast Cancer Susceptibility: Evidence from Meta-Analysis. Woloschak GE, éditeur. PLoS ONE. 19 avr2013;8(4):e61662.