Institut National du Cancer. Les cancers en France-Edition 2015 [en ligne]

Disponible sur :

http://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Les-cancers-en-France-Edition-2015 (consulté le 16/02/2017)

2. Institut National du Cancer. Anatomie du sein [en ligne]. Disponible sur :

www.e-cancer.fr/Patients-et-proches/Les-cancers/Cancer-du-sein/Anatomie-du-sein

3. Naassila Mickaël. La glande mammaire. Université de Pichardie, 2011 [en ligne].

Disponible sur : http://gdelg.free.fr/La%20glande%20mammaire%202011.pdf (consulté le

16/02/2017)

4. Organisation Mondiale de la Santé. Types histologiques des tumeurs du sein. 2ème edition

Genève, 1981 [en ligne]. Disponible sur : http://apps.who.int/iris/handle/10665/37660

(consulté le 16/02/2017)

5. Inserm. Cancer et environnement. Classification histologique et pathologie moléculaire

(chapitre 26), 2008 [en ligne]. Disponible sur :

www.ipubli.inserm.fr/bitstream/handle/10608/102/?sequence=38 (consulté le 16/02/2017)

6. Ridolfi RL, Rosen PP, Port A, Kinne D, Mike V. Medullary carcinoma of the breast: a

clinicopathologic study with 10 year follow-up. Cancer. 1977 ;40: 1365-1385.

7. Anne Croué. Anatomie pathologique des tumeurs malignes du sein. Laboratoire d’anatomie

pathologique. CHU Angers.

8. European guidelines for quality assurance in breast cancer screening and diagnosis. European

Union. Guidelines for pathology. 2006.

9. Ellis IO, Coleman D, Wells C, et al. Impact of a national external quality assessment scheme

for breast pathology in the UK. J Clin Pathol. 2006 ;59:138-45.

10.European Society for Medical Oncology. Cancer du sein : un guide pour les patientes-Basé

sur les recommandations de l’ESMO. ESMO 2013. 46 pages. [en ligne]. Disponible sur :

https://www.esmo.org/content/download/6595/114967/file/FR-Cancer-du-Sein-Guide-pour-les-Patients.pdf (consulté le 16/02/2017).

11.World Health Organization Classification of Tumors. Pathology and Genetics. Tumours of

the Breast and Female Genital organs. Lyon : IARC Press. 2003. Pp 9-110. Disponible sur :

https://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb4/BB4.pdf

12.Oncologik. Interregion :Sein (principes de prise en charge). Disponible sur :

www.oncologik.fr/index.php/Interregion:Sein_(principes_de_prise_en_charge) (consulté le

16/02/2017)

183

13.Ravichandran D, Kocjan G, Falzon M, et al. Imprint cytology of the sentinel lymph node in

the assessment of axillary node status in breast carcinoma. Eur J Surg Oncol.

2004;30:238-42.

14.Prédispositions génétiques au cancer du sein. La lettre du sénologue. 2009 ; 43 :1-40.

15.

www.e-cancer.fr/Patients-et-proches/Les-cancers/Cancer-du-sein/Hormonotherapie/Anti-aromatases

16.Goldhirsch A, Glick JH, Gelber RD, et al. Meeting highlights : International expert

consensus on the primary therapy of early breast cancer 2005. Ann Oncol. 2005;16:1569-83.

17.Romond EH, Perez EA, Bryant J, et al. Trastuzumab plus adjuvant chemotherapy for

operable HER2-positive breast cancer. N Engl J Med. 2005;353:1673-84.

18.Smith I, Procter M, Gelber RD, et al. Two-year follow-up of trastuzumab after adjuvant

chemotherapy in HER2-positive breast cancer : A randomised controlled trial. Lancet.

2007;369:29-36.

19.Arnould L, Denoux Y, McGrogan G, et al. Agreement between chromogenic in situ

hybridisation (CISH) and FISH in the determination of HER2 status in breast cancer. Br J

Cancer. 2003;88:1587-91.

20.Wolff AC, Hammond ME, Schwartz JN, et al. Guideline recommendations for human

epidermal growth factor receptor 2 testing in breast cancer. Arch Pathol Lab Med.

2007;131:18.

21.Galant C, Berlière M, Leconte I, Marbaix E. Nouveautés dans les facteurs histopronostiques

des cancers du sein. Imagerie de la Femme. 2010 ; 20 (1) : 9-17.

22.Reproduction et environnement. Méthodes d’études in vitro. Inserm 2011; 171-178.

23.Arber J.M., Riggs M.W., Arber D.A. Correlation among MiB-1 paraffin section proliferation

index and recurrence in low stage breast cancer Appl Immunohistochem. 1998;5: 17-124.

24.Mathieu MC. Les sous-types moléculaires des cancers du sein. La lettre du sénologue.

2007;38:33-34.

25.Perou CM, Sorlie T, Eisen MB, et al. Molecular portraits of human breast tumours. Nature.

2000;406:747-52.

26.Sorlie T, Tibshirani R, Parker J, et al. Repeated observation of breast tumor subtypes in

independant gene expression data sets. Proc Natl Acad Sci. 2003;100:8418-23.

27.Nielsen TO, Hsu FD, Jensen K, et al. Immunohistochemical and clinical characterization of

the basal-like subtype of invasive breast carcinoma. Clin Cancer Res. 2004;10:5367-74.

28.Livasy CA, Karaca G, Nanda R, et al. Phenotypic evaluation of the basal- like subtype of

invasive breast carcinoma. Mod Pathol. 2006;19:264-71.

29.Benlemlih A, Bendahou M, Znati K, Sekkal M, et al. Metaplastic breast carcinoma with

extensive bone differentiation: report of a case. Pan Afr Med J. 2013;16:36.

30.Rouzier R, Perou CM, Symmans WF, et al. Breast cancer molecular subtypes respond

differently to preoperative chemotherapy. Clin Cancer Res. 2005;11:5678-85.

31.Goldhirsch A, Winer EP, Coates AS, Gelber RD, Piccart-Gebhart M, et al. Personalizing the

treatement of women with early breast cancer: highlights of the St Gallen International

184

Expert Consensus on the Primary Therapy of Early Breast Cancer 2013. Annals of Oncology.

2013;24:2206-2223.

32.Benlemlih A, Bendahou M, Znati K, et al. Carcinome métaplasique du sein avec

différentiation osseuse extensive : à propos d’un cas. Pan Afr Med J 2013 ;16(36) :1-5.

33.Inserm. Cancer et environnement. Classification histologique et pathologie moléculaire

(chapitre 32), 2008 [en ligne]. Disponible sur :

http://www.ipubli.inserm.fr/bitstream/handle/10608/102/?sequence=45 (consulté le

16/02/2017)

34.Faculté de Médecine Pierre&Marie Curie. Cancérologie. Niveau DCEM3, 2002-2003 [en

ligne]. Disponible sur :

http://www.chups.jussieu.fr/polys/cancero/index.html (consulté le 16/02/2017)

35.Driancourt MA, Thatcher WW, Terqui M, Andrieu D. Dynamics of ovarian follicular

development in cattle during the œstrous cycle, early pregnancy and in response to PMSG.

Domest Anim Endocrinol. 1991; 8 : 209-221.

36.Bazot M, Nassar J, Jonard S, Rocourt N, Robert Y. Ovaire normal, variations physiologiques

et pathologies fonctionnelles de l’ovaire. EMC-Radiologie. 2004 ; 1 :647–664.

37.Seidman JD, Kurdman RJ. Pathology of ovarian carcinoma. Hematol Oncol Clin North Am.

2003;17:909-925.

38.Scully RE. Ovarian tumors. A review. Am J Pathol. 1977 ; 87 : 686-720.

39.Cancer de l’ovaire: un guide pour les patientes. Information basée sur les recommandations

de l’ESMO (European Society for Medical Oncology) 2014, 47 pages.

40.Steffensen KD, Waldstrøm M, Grove A, Lund B, Pallisgård N, Jakobsen A. Improved

classification of epithelial ovarian cancer: results of 3 danish cohorts. Int J Gynecol Cancer.

2011 ; 21(9) :1592–600.

41.Kurman RJ, Shih IeM.The origin and pathogenesis of epithelial ovarian cancer: a proposed

unifying theory. Am J Surg Pathol. 2010; 34(3):433-43.

42.Oncologik. Interregion : Ovaire [en ligne]. Disponible sur :

www.oncologik.fr/index.php/Interregion:Ovaire

43.Institut National du Cancer. CancerInfo. Les traitements des cancers de l’ovaire, collection

guide patients 2010, 80p.

44.Inserm. Cancers Pronostics à long terme. Inserm 2005. 323p [en ligne]. Disponible sur :

www.inserm.fr/content/download/8535/63848/file/cancers_pronostics_2006.pdf (consulté

le 16/02/2017)

45.Amram-Benamran ML, Cochet S, Sappino AP, Petignat P. Dépistage du cancer de l’ovaire :

recommandations pour la pratique clinique. Rev Med Suisse 2010;1062-1068.

46.Jacobs I, Bast RC Jr.The CA 125 tumour-associated antigen: a review of the literature. Hum

Reprod. 1989 Jan;4(1):1-12.

47.Bast RC Jr, Klug TL, St John E, Jenison E, Niloff JM, Lazarus H, et al. A radioimmunoassay

using a monoclonal antibody to monitor the course of epithelial ovarian cancer. N Engl J

Med. 1983 Oct 13;309(15):883-7.

185

48.Lynch HT., Katz DA, Bogard PJ, Lynch, JF. The sarcoma, breast cancer, lung cancer, and

adrenocortical carcinoma syndrome revisited. Am. J. Dis. Child. 1985;139:134-136.

49.Broca P. Traité des tumeurs. Paris 1866.

50.Warthin AS. Heredity with reference to carcinoma as shown by the study of the cases

examined in the pathologicallaboratory of the University of Michigan, 1895-1913. Arch

Intern Med 1913;12: 546-555.

51.Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and

steroid hormone study. Am J Hum Genet 1991;48(2):232-42.

52.Brown TA. Genomes. Oxford : IOS Scientific Publishers ltd, 1999.

53.Williams WR, Anderson DE. Genetic epidemiology of breast cancer : Segregation analysis of

200 Danish pedigrees. Genet Epidemiol 1994;1:7-20.

54.. Bonaiti-Pellié C, Essioux L, Stoppa-Lyonnet D, Feingold J. Epidémiologie génétique et

modèles de prédisposition. In : Risques héréditaires de cancers du sein et de l’ovaire. Inserm,

1998, 93-104. Disponible sur :

http://www.ipubli.inserm.fr/bitstream/handle/10608/201/?sequence=14

55.Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC. Linkage of

early-onset familial breast cancer to chromosome 17q21. Science. 1990;250:1684-1689.

56.Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q,

Cochran C, Bennett LM, Ding W, et al. A strong candidate for the breast and ovarian cancer

susceptibility gene BRCA1. Science. 1994;266:66-71.

57.Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran

T, Averill D, et al. Localization of a breast cancer susceptibility gene, BRCA2, to

chromosome 13q12-13. Science. 1994; 265 (5181):2088-2090.

58.Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the

breast cancer susceptibility gene BRCA2. Nature. 1995 ;378 : 789-92.

59.Chompret A. Diagnostic génétique du cancer du sein et de l’ovaire héréditaire. J Gynecol

Obstet Biol Reprod 2003;32:101-119.

60.Foulkes WD. Inherited susceptibility to common cancers. N Engl J Med 2008;

359:2143-2153.

61.Walsh T, Lee M, Casadei S, Thornton A, Stray S, et al. Detection of inherited mutations for

breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc

Natl Acad Sci U S A. 2010; 107(28): 12629–12633.

62.Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R et

al. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer

using genomic capture targeting multiple candidate genes. Eur J Hum

Genet. 2014;22(11):1305-13.

63.Pilarski R. Risk perception among women at risk for hereditary breast and ovarian cancer. J

Genet Couns 2009; 18: 303-312.

64.Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR et al. Localization

of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996 ; 13: 114-116.

186

65. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z et al. Mutation

spectrum and genotype-phenotype analyses in Cowden disease and Bannayan Zonana

syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998;

7: 507-515.

66.Krahn Martin. Bases moléculaires des mutations et Bases moléculaires du mode de

transmission des maladies génétiques. Département de Génétique Médicale - Hôpital Timone

Enfants, AP-HM, Et INSERM UMR910 - Faculté de Médecine, Université de la

Méditerranée Marseille, 2010-2011, 16 pages.

http://campus.cerimes.fr/genetique-medicale/enseignement/genetique26/site/html/cours.pdf.

67.Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M et al.

Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered

Cancer Clin Pract 2010; 8: 6.

68.Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in

individuals with germline PTEN mutations. Clin Cancer Res 2012; 18: 400-407.

69.Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V et al. Hereditary

diffuse gastric cancer: updated consensus guidelines for clinical management and directions

for future research. J Med Genet 2010 ; 47: 436-444.

70.Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ et al.

Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998;

128: 896-899.

71.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: 1258-1264.

72.Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al.

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. J Clin

Oncol. 2015;33(21):2345-52.

73.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: 1125-1130.

74.Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de SA, Oldenburg R et

al. Low-penetrance susceptibility to breast cancer due to CHEK2 (*)1100delC in noncarriers

of BRCA1 or BRCA2 mutations. Nat Genet 2002; 31: 55-59.

75.CHEK2 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: 1175-1182.

76.Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG.

CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: metaanalyses of

26,000 patient cases and 27,000 controls. J Clin Oncol 2008; 26: 542-548.

187

77.Cybulski C, Wokolorczyk D, Jakubowska A, Huzarski T, Byrski T, Gronwald J et al. Risk of

breast cancer in women with a CHEK2 mutation with and without a family history of breast

cancer. J Clin Oncol 2011; 29: 3747-3752.

78.Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxiatelangiectasia

heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996; 92: 130-134.

79.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: 813-822.

80.Easton DF. Cancer risks in A-T heterozygotes. Int J Radiat Biol 1994; 66: S177-S182.

81.Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S et al. The BRCA1-associated protein

BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl

Acad Sci U S A 2004; 101: 2357-2362.

82.Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A et al. PALB2, which encodes

a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007; 39:

165-167.

83.Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R et al. Truncating mutations in

the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat

Genet 2006; 38: 1239-1241.

84.Antoniou A, Casadei S, Heikkinen T, Barrowdale D et al. Breast-Cancer Risk in Families

with Mutations in PALB2. N Engl J Med 2014; 371:497-506.

85.Stratton JF, Thompson D, Bobrow L, Dalal N, Gore M, Bishop DT et al. The genetic

epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am J Hum

Genet 1999; 65: 1725-1732.

86.de PA, Jolissaint L, Freneaux P, Rouleau E, Stoppa-Lyonnet D, Buecher B. Hereditary forms

of ovarian cancer. Bull Cancer 2012; 99: 453-462.

87.Win AK, Young JP, Lindor NM, Tucker KM, Ahnen DJ, Young GP et al. Colorectal and

other cancer risks for carriers and noncarriers from families with a DNA mismatch repair

gene mutation: a prospective cohort study. J Clin Oncol 2012; 30: 958-964.

88.Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D et al. A germline mutation in

the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat

Genet 1992; 2: 132-134.

89.Lobaccaro JM, Lumbroso S, Belon C, Galtier-Dereure F, Bringer J, Lesimple T et

al.Androgen receptor gene mutation in male breast cancer. Hum Mol Genet 1993;

2:1799-1802.

90.Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E et

al.Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet

2012; 44: 312-318.

91.Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG et al.

Genome-wide association study identifies novel breast cancer susceptibility loci. Nature

2007; 447: 1087-1093.

188

92.Mcinerney N, Colleran G, Rowan A, Walther A, Barclay E, Spain S et al. Low penetrance

breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat 2009; 117:

151-159.

93.Easton DF, How many more breast cancer predisposition genes are there? Breast Cancer Res.

1999; 14-7.

94.Meijers-Heijboer H, van den OA, Klijn J, Wasieleswski M, de Snoo A, Oldenburg R, et al.

Low-penetrance susceptibility to breast cancer due to CHEK2 (*)1100delC in non carriers of

BRCA1 or BRCA2 mutations. Nat Genet 2002; 1:55-9.

95.Fortin Jessyka. Analyses génomique et transcriptionelle des gènes de susceptibilité aux

cancers du sein et de l'ovaire BRCA1 et BRCA2 chez les Canadiennes françaises. Maîtrise en

physiologie-endocrinologie. Laval : Université de Laval, 2005. Disponible sur:

Theses.ulaval.ca/archimede/fichiers/23063/ch01.html (16/02/2017)

96.Claus EB, Schildkraut JM, Thompson WD, Risch NJ: The genetic attributable risk of breast

and ovarian cancer. Cancer. 1996, 77:2318–2324.

97.Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE: Breast Cancer Linkage Consortium:

Risks of cancer in BRCA1-mutation carriers. Lancet. 1994, 343:692–695.

98.Whittemore AS, Gong G, Itnyre J: Prevalence and contribution of BRCA1 mutations in

breast cancer and ovarian cancer: results from three U.S. population-based case–control

studies of ovarian cancer. Am J Hum Genet. 1997, 60:496–504.

99.Pluta R, Golub, R. BRCA genes and breast cancer. The Journal of the American Medical

Association. 2011;305(21): 2244.

100. Bonaiti-Pellié C, Andrieu N, Arveux P, Bonadona V, Buecher B, Delpech M, Jolly D,

Julian-Rynier C, Luporsi E, Noguès C, et al. Oncogénétique : estimation des besoins de la

population en France pour les dix ans à venir. Bull Cancer. 2009 ; 96:875-900.

101. Pujol P, This P, Stoppa-Lyonnet D, Maudelonde T. Les formes héréditaires de cancer du

sein liées à BRCA1 et BRCA2 sont-elles sensible aux œstrogènes ? Bull Cancer. 2004 ;

91(7-8) :583-91.

102. Coutanson C. A la recherche des facteurs génétiques à l’origine du cancer du sein dans les

familles à cas multiples : grands réarrangements des gènes BRCA1/2 et mutations des gènes

candidats CHEK2 et ACACA. 2003 ; 1-28.

103. Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, et al. Average risks of breast

and ovarian 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;

72:1117-1130.

104. Probst-Hensch NM, Morabia A. Epidémiologie génétique et susceptibilité génétique au

cancer du sein. Rev Med Suisse. 2002, N2378.

105. Thompson D, Easton D; Breast Cancer Linkage Consortium. Variation in cancer risks, by

mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001 ; 68(2) :410-9.

106. Thompson D, Easton D; Breast Cancer Linkage Consortium. Variation in BRCA1 cancer

risks by mutation position. Cancer Epidemiol Biomarkers Prev. 2002, Apr ; 11(4):329-36.

189

107. Lecarpentier J, Noguès C, Mouret-Fourme E, Stoppa-Lyonnet D, Lasset C, et al.

Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray

history, in the French National BRCA1/2 carrier cohort (GENEPSO). Breast Cancer Res

Treat. 2012 ; 14:1-13.

108. Antoniou A, Rookus M, Andrieu N, Brochet R, Chang-Claude J, Peock S, Cook M, et al.

Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2

mutation carriers: results from the international BRCA1/2 carrier cohort study. Cancer

Epidemiology Biomarkers and Prevention. 2009; 18:601.

109. Chang-Claude J, Andrieu N, Rookus M, Brochet R, Antoniou A, et al. Age at menarche

and menopause and breast cancer risk in the international BRCA1/2 carrier cohort study.

Cancer Epidemiology Biomarkers and Prevention. 2009 ; 16:740.

110. Rebbeck TR. Inherited predisposition and breast cancer: modifiers of

BRCA1/2-associated breast cancer risk. Environ Mol Mutagen 2002; 2-3:228-34.

111. Robson ME, Chappuis PO, Satagopan J, et al.: A combined analysis of outcome following

breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and

administration of adjuvant treatment. Breast Cancer Res. 2004; 6:R8-R17.

112. Tan DSP, Rothermundt C, Thomas K, et al. “BRCAness” syndrome in ovarian cancer: a

case-control study describing the clinical features and outcome of patients with epithelial

ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol. 2008; 26:5530 –

5536.

113. Byrd LM, Shenton A, Maher ER, et al. Better life expectancy in women with BRCA2

compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian

cancer. Cancer Epidemiol Biomarkers Prev. 2008 ; 17:1535–1542.

114. Pal T, Permuth-Wey J, Kapoor R, Cantor A, Sutphen R. Improved survival in BRCA2

carriers with ovarian cancer. Fam Cancer. 2007 ; 6:113–119.

115. Mullan PB, Quinn JE and Harkin DP. The role of BRCA1 in transcriptional regulation

and cell cycle control. Oncogene. 2006 ; 25:5844-586.

116. Knudson AG. Hereditary cancer, oncogenes, and antioncogenes. Cancer Res. 1985 ;

45(4): 1437-43.

117. Kinzler KW, Vogelstein B. Cancer-susceptibility genes. Gatekeepers and caretakers.

Nature. 1997 ; 386(6627):761,763.

118. Stewart B, Kleihues P. World cancer report. Lyon, IARC Press. 2003. 350 pages.

119. Feunteun J. BRCA1 et BRCA2 : des échafaudages de réparation des lésions de l’ADN ?

Médecine/sciences 2001 ;17 :1070-1071.

120. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC. Linkage of

early-onset familial breast cancer to chromosome 17q21. Science. 1990; 250:1684-1689.

121. Pujol P. Prédispositions génétiques aux cancers. Faculté de Médecine Montpellier-Nîmes,

2004 [en ligne]. Disponible sur :

www.med.univmontp1.fr/enseignement/cycle_2/MIB/Ressources_locales/cancero/MIB_canc

ero_139_predisposition_genetique_sept2004.pdf (consulté en mai 2016)

190

122. Fricker JP, Muller D, Cutuli B, Rodier JF, Janser JC, Jung GM, Mors R, Petit T, Haegele

P and Abecassis J. Germ-line mutations at BRCA1 in northeastern France. Bulletin du

Cancer. 2000;87(10):739-744

123. Uhrhammer N, Bornes S, Bignon J. Quelle place tiennent les gènes BRCA1 et BRCA2

dans les risques héréditaires de cancer de l’ovaire ? Oncologie. 2005 ;7 :526-530.

124. Koonin EV, Altschul SF, Bork P. BRCA1 protein products ... Functional motifs...Nat

Genet. 1996;13(3):266-8.

125. Huyton T, Bates PA, Zhang X, Sternberg MJ, Freemont PS. The BRCA1 C-terminal

domain:structure and function. Mutat Res. 2000 Aug 30;460(3-4):319-32.

126. Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, Yao J, Farid LM, Couch FJ,

Wilson RB, Weber BL. Localization of BRCA1 and a splice variant identifies the nuclear

localization signal. Mol Cell Biol. 1997;17(1):444-52.

127. Chen CF, Li S, Chen Y, Chen PL, Sharp ZD, Lee WH.The nuclear localization sequences

of the BRCA1 protein interact with the importin-alpha subunit of the nuclear transport signal

receptor. JBiol Chem. 1996;271(51):32863-8.

128. Rodriguez JA, Henderson BR. Identification of a functional nuclear export sequence in

BRCA1. JBiol Chem. 2000;275(49):38589-96.

129. Scully R, Livingston DM. In search of the tumour-suppressor functions of BRCA1 and

BRCA2. Nature. 2000;408 (6811): 429-32.

130. Paull TT, Rogakou EP, Yamazaki V, et al. A critical role for histone H2AX in recruitment

of repair factors to nuclear foci after DNA damage. Curr Biol. 2000; 10 (15):886-95.

131. Zheng L, Pan H, Li S, et al. Sequencespecific transcriptional corepressor function for

BRCA1 through a novel zinc finger protein, ZBRK1. Mol Cell. 2000; 6 (4): 757-68

132. Hashizume R, Fukuda M, Maeda I, et al. The RING heterodimer BRCA1- BARD1 is a

ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem. 2001;276 (18):

14537-40.

133. Yarden RI, Pardo-Reoyo S, Sgagias M, et al. BRCA1 regulates the G2/M checkpointby

activating Chk1 kinase upon DNA damage. Nat Genet. 2002;30 (3): 285-9

134. Lotti LV, Ottini L, D’Amico C, et al. Subcellular localization of the BRCA1 gene product

in mitotic cells. Genes Chromosomes Cancer. 2002;35 (3): 193-203

135. Welcsh PL, King MC.BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.

Hum MolGenet. 2001;10(7):705-13.

136. Bork P, Blomberg N, Nilges M. Internal repeats in the BRCA2 protein sequence. Nat

Genet. 1996;13(1):22-3.

137. Spain BH, Larson CJ, Shihabuddin LS, Gage FH, Verma IM. Truncated BRCA2 is

cytoplasmic: implications for cancer-linked mutations. Proc Natl Acad Sci USA.

1999;96(24):13920-5.

138. Xia F, Taghian DG, DeFrank JS, et al. Deficiency of human BRCA2 leads to impaired

homologous recombination but maintains normal non homologous end joining. Proc Natl

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