T. Walsh, M. Lee, S. Casadei, A. Thornton, S. Stray et al., Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing, Proceedings of the National Academy of Sciences, vol.107, issue.28, pp.12629-12662, 2010.
DOI : 10.1101/gr.078212.108

D. Hanahan and R. Weinberg, Hallmarks of Cancer: The Next Generation. Cell, pp.646-74, 2011.

R. Numériques-en-biologie, La régulation du cycle cellulaire. [internet]

D. Stehelin, H. Varmus, J. Bishop, and P. Vogt, DNA related to the transforming gene(s) of avian sarcoma viruses is present in normal avian DNA, Nature, vol.3, issue.5547, pp.170-173, 1976.
DOI : 10.1016/0005-2787(73)90095-6

A. Knudson, Mutation and Cancer: Statistical Study of Retinoblastoma, Proceedings of the National Academy of Sciences, vol.68, issue.4, pp.820-823, 1971.
DOI : 10.1073/pnas.68.4.820

A. Cowppli-bony, Z. Uhry, L. Remontet, A. Guizard, N. Voirin et al., Survie des personnes atteintes de cancer en France métropolitaine, 1989.
DOI : 10.1016/j.respe.2016.06.084

A. Howell, A. Anderson, R. Clarke, S. Duffy, D. Evans et al., Risk determination and prevention of breast cancer, Breast Cancer Research, vol.4, issue.62, p.446, 2014.
DOI : 10.1126/scitranslmed.3003218

G. Colditz and K. Bohlke, Priorities for the primary prevention of breast cancer, CA: A Cancer Journal for Clinicians, vol.87, issue.6, pp.186-94
DOI : 10.2105/AJPH.87.10.1603

D. Parkin, L. Boyd, and L. Walker, The fraction of cancer attributable to lifestyle and environmental factors in the UK in 2010, Br J Cancer, vol.16105, issue.2, pp.77-81, 2011.

B. Lynch, H. Neilson, and C. Friedenreich, Physical activity and breast cancer prevention. Recent Results Cancer Res Fortschritte Krebsforsch Progres Dans Rech Sur Cancer, pp.13-42, 2011.

W. Chen, B. Rosner, S. Hankinson, G. Colditz, and W. Willett, Moderate Alcohol Consumption During Adult Life, Drinking Patterns, and Breast Cancer Risk, JAMA, vol.306, issue.17, pp.1884-90, 2011.
DOI : 10.1001/jama.2011.1590

R. Patterson, L. Cadmus, J. Emond, and J. Pierce, Physical activity, diet, adiposity and female breast cancer prognosis: A review of the epidemiologic literature, Maturitas, vol.66, issue.1, pp.5-15, 2010.
DOI : 10.1016/j.maturitas.2010.01.004

D. Preston, A. Mattsson, E. Holmberg, R. Shore, N. Hildreth et al., Radiation Effects on Breast Cancer Risk: A Pooled Analysis of Eight Cohorts, Radiation Research, vol.158, issue.2, 2002.
DOI : 10.1667/0033-7587(2002)158[0220:REOBCR]2.0.CO;2

T. Key, P. Verkasalo, and E. Banks, Epidemiology of breast cancer, The Lancet Oncology, vol.2, issue.3, pp.133-173, 2001.
DOI : 10.1016/S1470-2045(00)00254-0

K. Mcpherson, C. Steel, and J. Dixon, ABC of breast diseases: Breast cancer---epidemiology, risk factors, and genetics, BMJ, vol.321, issue.7261, pp.624-632, 2000.
DOI : 10.1136/bmj.321.7261.624

B. Cutuli, S. Kanoun, C. Tunon-de-lara, M. Baron, L. Livi et al., Breast cancer occurred after Hodgkin's disease: Clinico-pathological features, treatments and outcome: Analysis of 214 cases, Critical Reviews in Oncology/Hematology, vol.81, issue.1, pp.29-37
DOI : 10.1016/j.critrevonc.2011.01.005

J. Kelsey and L. Bernstein, Epidemiology and Prevention of Breast Cancer, Annual Review of Public Health, vol.17, issue.1, pp.47-67, 1996.
DOI : 10.1146/annurev.pu.17.050196.000403

L. Hartmann, T. Sellers, M. Frost, W. Lingle, A. Degnim et al., Benign Breast Disease and the Risk of Breast Cancer, New England Journal of Medicine, vol.353, issue.3, pp.229-266, 2005.
DOI : 10.1056/NEJMoa044383

J. Yager and N. Davidson, Estrogen Carcinogenesis in Breast Cancer, New England Journal of Medicine, vol.354, issue.3, pp.270-82, 2006.
DOI : 10.1056/NEJMra050776

M. Glade, Food, nutrition, and the prevention of cancer: a global perspective American Institute for Cancer Research/World Cancer Research Fund, American Institute for Cancer Research, 1997.

P. Layde, L. Webster, A. Baughman, P. Wingo, G. Rubin et al., The independent associations of parity, age at first full term pregnancy, and duration of breastfeeding with the risk of breast cancer, Journal of Clinical Epidemiology, vol.42, issue.10, pp.963-73, 1989.
DOI : 10.1016/0895-4356(89)90161-3

J. Rossouw, G. Anderson, R. Prentice, A. Lacroix, C. Kooperberg et al., Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results From the Women's Health Initiative randomized controlled trial, JAMA Jul, vol.17288, issue.3, pp.321-354, 2002.

V. Beral, M. Women-study, and . Collaborators, Breast cancer and hormone-replacement therapy: the Million Women Study, The Lancet, vol.362, issue.9392, pp.419-446, 2003.
DOI : 10.1016/S0140-6736(03)14596-5

P. Pharoah, N. Day, S. Duffy, D. Easton, and B. Ponder, Family history and the risk of breast cancer: A systematic review and meta-analysis, International Journal of Cancer, vol.48, issue.5, pp.800-809, 1997.
DOI : 10.1038/bjc.1990.23

R. Curtis, D. Freedman, R. E. Ries, L. Hacker, D. Edwards et al., New Malignancies Among Cancer Survivors: SEER Cancer Registries, National Cancer Institute. NIH Publ, pp.5-5302, 1973.

L. Mørch, E. Løkkegaard, A. Andreasen, S. Krüger-kjaer, and O. Lidegaard, Hormone therapy and ovarian cancer, JAMA. Jul, vol.15302, issue.3, pp.298-305, 2009.

V. Beral, K. Gaitskell, C. Hermon, K. Moser, and G. Reeves, Menopausal hormone use and ovarian cancer risk: individual participant meta-analysis of 52 epidemiological studies, Lancet Lond Engl, vol.385, issue.9980, pp.1835-1877, 2009.

M. Camargo, L. Stayner, K. Straif, M. Reina, U. Al-alem et al., Occupational exposure to asbestos and ovarian cancer: a meta-analysis. Environ Health Perspect, pp.1211-1218, 2011.
DOI : 10.1289/ehp.1003283

URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230399/pdf

L. Schouten, C. Rivera, D. Hunter, D. Spiegelman, H. Adami et al., Height, body mass index, and ovarian cancer: a pooled analysis of 12 cohort studies. Cancer Epidemiol Biomark Prev Publ Am Assoc Cancer Res Cosponsored Am Soc Prev Oncol, pp.902-914, 2008.

. Final-update and . Summary, BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing -US Preventive Services Task Force. [internet] [cited Available from: https://www.uspreventiveservicestaskforce.org/Page/Document/RecommendationSt atementFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic- testing, 2017.

C. Bonaïti-pellié, N. Andrieu, P. Arveux, V. Bonadona, B. Buecher et al., Cancer genetics: estimation of the needs of the population in France for the next ten years], Bull Cancer, vol.96, issue.9, pp.875-900, 2009.

L. Robertson, H. Hanson, S. Seal, M. Warren-perry, D. Hughes et al., BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years, British Journal of Cancer, vol.21, issue.6, pp.1234-1242, 2012.
DOI : 10.1186/1471-2407-9-86

URL : http://doi.org/10.1038/bjc.2012.31

F. Aloraifi, M. Boland, A. Green, and J. Geraghty, Gene analysis techniques and susceptibility gene discovery in??non-BRCA1/BRCA2 familial breast cancer, Surgical Oncology, vol.24, issue.2, pp.100-109
DOI : 10.1016/j.suronc.2015.04.003

J. Hall, M. Lee, B. Newman, J. Morrow, L. Anderson et al., Linkage of early-onset familial breast cancer to chromosome 17q21, Science, vol.250, issue.4988, pp.1684-1693, 1990.
DOI : 10.1126/science.2270482

Y. Miki, J. Swensen, D. Shattuck-eidens, P. Futreal, K. Harshman et al., A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, pp.66-71, 1994.

R. Wooster, S. Neuhausen, J. Mangion, Y. Quirk, D. Ford et al., Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science, pp.2088-90, 1994.

C. Szabo, L. Wagner, L. Francisco, J. Roach, R. Argonza et al., Human, canine and murine BRCA1 genes: sequence comparison among species, Human Molecular Genetics, vol.5, issue.9, pp.1289-98, 1996.
DOI : 10.1093/hmg/5.9.1289

URL : https://academic.oup.com/hmg/article-pdf/5/9/1289/1661461/5-9-1289.pdf

V. Joukov, J. Chen, E. Fox, J. Green, and D. Livingston, Functional communication between endogenous BRCA1 and its partner, BARD1, during Xenopus laevis development, Proceedings of the National Academy of Sciences, vol.36, issue.1, pp.12078-83, 2001.
DOI : 10.1016/S0091-679X(08)60270-8

URL : http://www.pnas.org/content/98/21/12078.full.pdf

P. Welcsh, K. Owens, and M. King, Insights into the functions of BRCA1 and BRCA2, Trends in Genetics, vol.16, issue.2, pp.69-74, 2000.
DOI : 10.1016/S0168-9525(99)01930-7

S. Anderson, B. Schlegel, T. Nakajima, E. Wolpin, and J. Parvin, BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A, Nat Genet, 1998.

S. West, Molecular views of recombination proteins and their control, Nature Reviews Molecular Cell Biology, vol.4, issue.6, pp.435-480, 2003.
DOI : 10.1038/nrm1127

A. Antoniou, P. Pharoah, S. Narod, H. Risch, J. Eyfjord 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, The American Journal of Human Genetics, vol.72, issue.5, pp.1117-1147, 2003.
DOI : 10.1086/375033

H. Nelson, R. Fu, K. Goddard, J. Mitchell, L. Okinaka-hu et al., Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: A Systematic Review to Update the U.S. Preventive Services Task Force Recommendation, Agency for Healthcare Research and Quality (US), 2013.
DOI : 10.7326/M13-1684

O. Jóhannsson, I. Idvall, C. Anderson, A. Borg, R. Barkardóttir et al., Tumour biological features of BRCA1-induced breast and ovarian cancer, European Journal of Cancer, vol.33, issue.3, pp.362-71, 1990.
DOI : 10.1016/S0959-8049(97)89007-7

S. Lakhani, S. Manek, F. Penault-llorca, A. Flanagan, L. Arnout et al., Pathology of Ovarian Cancers in BRCA1 and BRCA2 Carriers. Clin Cancer Res, pp.2473-81, 2004.

A. Chompret, A. Abel, D. Stoppa-lyonnet, L. Brugiéres, S. Pagés et al., Sensitivity and predictive value of criteria for p53germline mutation screening, Journal of Medical Genetics, vol.38, issue.1, pp.43-50, 2001.
DOI : 10.1136/jmg.38.1.43

M. Olivier, D. Goldgar, N. Sodha, H. Ohgaki, P. Kleihues et al., Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype, Cancer Res, vol.63, issue.20, pp.6643-50, 2003.

D. Alessi, K. Sakamoto, and J. Bayascas, LKB1-Dependent Signaling Pathways, Annual Review of Biochemistry, vol.75, issue.1, pp.137-63, 2006.
DOI : 10.1146/annurev.biochem.75.103004.142702

T. Mcgarrity, C. Amos, M. Baker, R. Pagon, M. Adam et al., Peutz-Jeghers syndrome, The American Journal of Gastroenterology, vol.34, issue.3, 1266.
DOI : 10.1210/jc.83.8.2972

M. Overduin, T. Harvey, S. Bagby, K. Tong, P. Yau et al., Solution structure of the epithelial cadherin domain responsible for selective cell adhesion, Science, vol.4, issue.6, 1995.
DOI : 10.1007/BF00398413

R. Weinberg, The Biology of Cancer. Garland Science, 2006.

G. Berx, A. Cleton-jansen, F. Nollet, W. De-leeuw, M. Van-de-vijver et al., E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers, EMBO J, vol.14, issue.24, pp.6107-6122, 1995.

T. Walsh and M. King, Ten genes for inherited breast cancer. Cancer Cell, Feb, vol.11, issue.2, pp.103-108, 2007.
DOI : 10.1016/j.ccr.2007.01.010

URL : https://doi.org/10.1016/j.ccr.2007.01.010

K. Khanna and S. Jackson, DNA double-strand breaks: signaling, repair and the cancer connection, Nature Genetics, vol.27, issue.3, pp.247-54, 2001.
DOI : 10.1038/85798

R. Williams, J. Williams, and J. Tainer, Mre11???Rad50???Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin templateThis paper is one of a selection of papers published in this Special Issue, entitled 28th International West Coast Chromatin and Chromosome Conference, and has undergone the Journal's usual peer review process., Biochemistry and Cell Biology, vol.4, issue.4, pp.509-529, 2007.
DOI : 10.1016/S0960-9822(01)00019-7

J. Bartek and J. Lukas, Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell, pp.421-430, 2003.
DOI : 10.1016/s1535-6108(03)00110-7

URL : https://doi.org/10.1016/s1535-6108(03)00110-7

F. Aloraifi, D. Mccartan, T. Mcdevitt, A. Green, A. Bracken et al., Proteintruncating variants in moderate-risk breast cancer susceptibility genes: a metaanalysis of high-risk case-control screening studies, Cancer Genet, 2015.

B. Xia, Q. Sheng, K. Nakanishi, A. Ohashi, J. Wu et al., Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2, Molecular Cell, vol.22, issue.6, pp.719-748, 2006.
DOI : 10.1016/j.molcel.2006.05.022

R. Buisson, A. Dion-côté, Y. Coulombe, H. Launay, H. Cai et al., Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination, Nature Structural & Molecular Biology, vol.269, issue.10, pp.1247-54, 2010.
DOI : 10.1016/S0921-8777(97)00028-1

E. Dray, J. Etchin, C. Wiese, D. Saro, G. Williams et al., Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2, Nat Struct Mol Biol, 2010.

S. Cantor, D. Bell, S. Ganesan, E. Kass, R. Drapkin et al., BACH1, a Novel Helicase-like Protein, Interacts Directly with BRCA1 and Contributes to Its DNA Repair Function, Cell, vol.105, issue.1, pp.149-60, 2001.
DOI : 10.1016/S0092-8674(01)00304-X

S. Seal, D. Thompson, A. Renwick, A. Elliott, P. Kelly et al., Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles, Nature Genetics, vol.42, issue.11, pp.1239-1280, 2006.
DOI : 10.1136/jmg.2004.022673

S. Ramus, H. Song, E. Dicks, J. Tyrer, A. Rosenthal et al., Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer, JNCI: Journal of the National Cancer Institute, vol.107, issue.11, 2015.
DOI : 10.1093/jnci/djv214

V. Bhaskara, A. Dupré, B. Lengsfeld, B. Hopkins, A. Chan et al., Rad50 Adenylate Kinase Activity Regulates DNA Tethering by Mre11/Rad50 Complexes, Molecular Cell, vol.25, issue.5, pp.647-61, 2007.
DOI : 10.1016/j.molcel.2007.01.028

URL : https://doi.org/10.1016/j.molcel.2007.01.028

M. De-jager, C. Wyman, D. Van-gent, and R. Kanaar, DNA end-binding specificity of human Rad50/Mre11 is influenced by ATP, Nucleic Acids Research, vol.30, issue.20, pp.4425-4456, 2002.
DOI : 10.1093/nar/gkf574

É. Raymond, Le concept de cible en cancérologie. Thérapie ciblée des cancers, 2009.

E. Rass, A. Grabarz, I. Plo, J. Gautier, P. Bertrand et al., Role of Mre11 in chromosomal nonhomologous end joining in mammalian cells, Nature Structural & Molecular Biology, vol.24, issue.8, pp.819-843, 2009.
DOI : 10.1128/MCB.16.5.2164

URL : https://hal.archives-ouvertes.fr/hal-00413788

L. Melchor and J. Benítez, The complex genetic landscape of familial breast cancer, Human Genetics, vol.134, issue.3, pp.845-63, 2013.
DOI : 10.1007/s10549-012-2141-2

R. Pilarski, Cowden Syndrome: A Critical Review of the Clinical Literature, Journal of Genetic Counseling, vol.69, issue.4, pp.13-27, 2009.
DOI : 10.3171/foc.2006.20.1.7

S. Gustafson, K. Zbuk, C. Scacheri, and C. Eng, Cowden syndrome. Semin Oncol, pp.428-462, 2007.

C. Eng, Will the real Cowden syndrome please stand up: revised diagnostic criteria, Journal of Medical Genetics, vol.37, issue.11, pp.828-858, 2000.
DOI : 10.1136/jmg.37.11.828

URL : http://jmg.bmj.com/content/jmedgenet/37/11/828.full.pdf

K. Lloyd and M. Dennis, Cowden's Disease, Annals of Internal Medicine, vol.58, issue.1, pp.136-178, 1963.
DOI : 10.7326/0003-4819-58-1-136

M. Nelen, G. Padberg, E. Peeters, A. Lin, B. Van-den-helm et al., Localization of the gene for Cowden disease to chromosome 10q22???23, Nature Genetics, vol.53, issue.1, pp.114-120, 1996.
DOI : 10.1016/0092-8674(91)90189-6

M. Nelen, V. Staveren, G. Wc, E. Peeters, B. Hassel et al., Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease, Human Molecular Genetics, vol.6, issue.8, pp.1383-1390, 1997.
DOI : 10.1093/hmg/6.8.1383

D. Marsh, V. Coulon, K. Lunetta, P. Rocca-serra, P. Dahia et al., Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation, Human Molecular Genetics, vol.7, issue.3, pp.507-522, 1998.
DOI : 10.1093/hmg/7.3.507

J. Chung and C. Eng, Nuclear-Cytoplasmic Partitioning of Phosphatase and Tensin Homologue Deleted on Chromosome 10 (PTEN) Differentially Regulates the Cell Cycle and Apoptosis, Cancer Research, vol.65, issue.18, pp.8096-100, 2005.
DOI : 10.1158/0008-5472.CAN-05-1888

J. Lee, H. Yang, M. Georgescu, D. Cristofano, A. Maehama et al., Crystal Structure of the PTEN Tumor Suppressor, Cell, vol.99, issue.3, pp.323-357, 1999.
DOI : 10.1016/S0092-8674(00)81663-3

L. Weng, J. Brown, and C. Eng, PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways, Human Molecular Genetics, vol.10, issue.3, pp.237-279, 2001.
DOI : 10.1093/hmg/10.3.237

URL : https://academic.oup.com/hmg/article-pdf/10/3/237/9464146/dde021.pdf

N. Leslie and C. Downes, PTEN function: how normal cells control it and tumour cells lose it, Biochemical Journal, vol.382, issue.1, pp.1-11, 2004.
DOI : 10.1042/BJ20040825

M. Davies, S. Kim, N. Parikh, Z. Dong, C. Bucana et al., Adenoviral-mediated expression of MMAC/PTEN inhibits proliferation and metastasis of human prostate cancer cells, Clin Cancer Res Off J Am Assoc Cancer Res, vol.8, issue.6, pp.1904-1918, 2002.

J. Liliental, S. Moon, R. Lesche, R. Mamillapalli, D. Li et al., Genetic deletion of the Pten tumor suppressor gene promotes cell motility by activation of Rac1 and Cdc42 GTPases, Current Biology, vol.10, issue.7, pp.401-405, 2000.
DOI : 10.1016/S0960-9822(00)00417-6

V. Stambolic, A. Suzuki, J. De-la-pompa, G. Brothers, C. Mirtsos et al., Negative Regulation of PKB/Akt-Dependent Cell Survival by the Tumor Suppressor PTEN, Cell, vol.95, issue.1, pp.29-39, 1998.
DOI : 10.1016/S0092-8674(00)81780-8

F. Vazquez and W. Sellers, The PTEN tumor suppressor protein: an antagonist of phosphoinositide 3-kinase signaling, Biochimica et Biophysica Acta (BBA) - Reviews on Cancer, vol.1470, issue.1, pp.21-35, 2000.
DOI : 10.1016/S0304-419X(99)00032-3

K. Podsypanina, L. Ellenson, A. Nemes, J. Gu, M. Tamura et al., Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems, Proceedings of the National Academy of Sciences, vol.8, issue.21, pp.1563-1571, 1999.
DOI : 10.1016/S0960-9822(07)00488-5

S. Uppal, D. Mistry, and A. Coatesworth, Cowden disease: a review, International Journal of Clinical Practice, vol.29, issue.1904-14, pp.645-52, 2007.
DOI : 10.1111/j.1524-4725.1989.tb03122.x

I. Sansal and W. Sellers, The biology and clinical relevance of the PTEN tumor suppressor pathway, J Clin Oncol Off J Am Soc Clin Oncol Jul, vol.1522, issue.14, pp.2954-63, 2004.

G. Mitchell, P. Farndon, P. Brayden, V. Murday, and R. Eeles, Genetic Predisposition to Cancer: The Consequences of a Delayed Diagnosis of Gorlin Syndrome, Clinical Oncology, vol.17, issue.8, pp.650-654, 2005.
DOI : 10.1016/j.clon.2005.07.014

K. Wolff, L. Goldsmith, S. Katz, B. Gilchrest, A. Paller et al., Fitzpatrick's Dermatology in General Medicine, 2008.

M. Rupprecht, C. Mensing, F. Barvencik, H. Ittrich, M. Heiland et al., Skelettale und kutane Charakteristika des n??voiden Basalzellkarzinomsyndroms (Gorlin-Goltz-Syndrom), R??Fo - Fortschritte auf dem Gebiet der R??ntgenstrahlen und der bildgebenden Verfahren, vol.179, issue.6, pp.618-644, 2007.
DOI : 10.1055/s-2007-963117

URL : http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2007-963117.pdf

R. Gorlin, Nevoid basal cell carcinoma (Gorlin) syndrome, Genet Med Off J Am Coll Med Genet, vol.6, issue.6, pp.530-539, 2004.
DOI : 10.1038/npg.els.0006082

L. Muzio and L. , Nevoid basal cell carcinoma syndrome (Gorlin syndrome), Orphanet Journal of Rare Diseases, vol.3, issue.1, p.32, 2008.
DOI : 10.1186/1750-1172-3-32

V. Kimonis, A. Goldstein, B. Pastakia, M. Yang, R. Kase et al., Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome, American Journal of Medical Genetics, vol.22, issue.3, pp.299-308, 1997.
DOI : 10.1001/archderm.1959.01560130069008

T. Stavrou, E. Dubovsky, G. Reaman, A. Goldstein, and G. Vezina, Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome, AJNR Am J Neuroradiol, vol.21, issue.4, pp.790-794, 2000.

H. Veenstra-knol, J. Scheewe, G. Van-der-vlist, M. Van-doorn, and M. Ausems, Early recognition of basal cell naevus syndrome, European Journal of Pediatrics, vol.73, issue.3, pp.126-156, 2005.
DOI : 10.1007/s00431-004-1597-4

P. Farndon, D. Mastro, R. Kilpatrick, M. Evans, and D. , Location of gene for Gorlin syndrome. The Lancet, pp.581-583, 1992.

H. Hahn, C. Wicking, P. Zaphiropoulous, M. Gailani, S. Shanley et al., Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome, Cell, vol.85, issue.6, pp.841-51, 1996.
DOI : 10.1016/S0092-8674(00)81268-4

R. Johnson, A. Rothman, J. Xie, L. Goodrich, J. Bare et al., Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome, Science, vol.272, issue.5268, pp.1668-71, 1996.
DOI : 10.1126/science.272.5268.1668

A. Bale and K. Yu, The hedgehog pathway and basal cell carcinomas, Human Molecular Genetics, vol.10, issue.7, pp.757-62, 2001.
DOI : 10.1093/hmg/10.7.757

N. Boutet, Y. Bignon, V. Drouin-garraud, P. Sarda, M. Longy et al., Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome, Journal of Investigative Dermatology, vol.121, issue.3, pp.478-81, 2003.
DOI : 10.1046/j.1523-1747.2003.12423.x

E. Lindström, T. Shimokawa, R. Toftgård, and P. Zaphiropoulos, PTCH mutations: distribution and analyses, Human Mutation, vol.57, issue.3, pp.215-224, 2006.
DOI : 10.1002/humu.20296

C. Wicking, S. Shanley, I. Smyth, S. Gillies, K. Negus et al., Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident, Am J Hum Genet, vol.60, issue.1, pp.21-27, 1997.

D. Evans, D. Oudit, M. Smith, D. Rutkowski, E. Allan et al., First evidence of genotype???phenotype correlations in Gorlin syndrome, Journal of Medical Genetics, vol.21, issue.4 Suppl, 2017.
DOI : 10.1136/jmedgenet-2017-104669

M. Taylor, L. Liu, C. Raffel, C. Hui, T. Mainprize et al., Mutations in SUFU predispose to medulloblastoma, Nature Genetics, vol.9, issue.3, pp.306-316, 2002.
DOI : 10.1016/S0960-9822(99)80482-5

L. Pastorino, P. Ghiorzo, S. Nasti, L. Battistuzzi, R. Cusano et al., Identification of a SUFU germline mutation in a family with Gorlin syndrome, Am J Med Genet A, vol.149, issue.7, pp.1539-1582, 2009.

J. Svärd, K. Heby-henricson, K. Henricson, M. Persson-lek, B. Rozell et al., Genetic Elimination of Suppressor of Fused Reveals an Essential Repressor Function in the Mammalian Hedgehog Signaling Pathway, Developmental Cell, vol.10, issue.2, pp.187-97, 2006.
DOI : 10.1016/j.devcel.2005.12.013

V. Bonadona, B. Bonaïti, E. Yhuel, C. Lasset, and C. Bonaïti-pellié, Estimation des risques tumoraux dans le syndrome de Lynch : résultats de l'étude française ERISCAM. Rev DÉpidémiologie Santé Publique, p.71, 2010.
DOI : 10.1016/j.respe.2010.06.080

. Olschwang, Cancer du colon héréditaire non polyposique (Syndrome HNPCC). Orphanet, 2004.

H. Autorité and D. Santé, Cancer colorectal : modalités de dépistage et de prévention chez les sujets à risque élevé et très élevé Recommandation de bonne pratique, 2017.

R. Kolodner, Biochemistry and genetics of eukaryotic mismatch repair., Genes & Development, vol.10, issue.12, pp.1433-1475, 1996.
DOI : 10.1101/gad.10.12.1433

URL : http://genesdev.cshlp.org/content/10/12/1433.full.pdf

H. Echols and M. Goodman, Fidelity Mechanisms in DNA Replication, Annual Review of Biochemistry, vol.60, issue.1, pp.477-511, 1991.
DOI : 10.1146/annurev.bi.60.070191.002401

R. Fishel, The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, pp.1027-1065, 1993.

C. Bronner, Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer, Nature, issue.6468, pp.368258-61, 1994.

M. Miyaki, M. Konishi, K. Tanaka, R. Kikuchi-yanoshita, M. Muraoka et al., Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer, Nature Genetics, vol.268, issue.3, pp.271-273, 1997.
DOI : 10.1038/382499a0

N. Nicolaides, N. Papadopoulos, B. Liu, Y. Weit, K. Carter et al., Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer, Nature, vol.371, issue.6492, pp.75-80, 1994.
DOI : 10.1038/371075a0

M. Kovacs, J. Papp, Z. Szentirmay, S. Otto, and E. Olah, constitute a distinct class of mutations predisposing to Lynch syndrome, Human Mutation, vol.5, issue.2, pp.197-203, 2009.
DOI : 10.3748/wjg.v12.i8.1192

M. Gail, L. Brinton, D. Byar, D. Corle, S. Green et al., Projecting Individualized Probabilities of Developing Breast Cancer for White Females Who Are Being Examined Annually, JNCI Journal of the National Cancer Institute, vol.81, issue.24, pp.1879-86, 1989.
DOI : 10.1093/jnci/81.24.1879

G. Parmigiani, D. Berry, and O. Aguilar, Determining Carrier Probabilities for Breast Cancer???Susceptibility Genes BRCA1 and BRCA2, The American Journal of Human Genetics, vol.62, issue.1, pp.145-58, 1998.
DOI : 10.1086/301670

URL : https://doi.org/10.1086/301670

A. Lee, A. Cunningham, K. Kuchenbaecker, N. Mavaddat, D. Easton et al., BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface, British Journal of Cancer, vol.91, issue.2, pp.535-580, 2014.
DOI : 10.1186/bcr2118

URL : http://www.nature.com/bjc/journal/v110/n2/pdf/bjc2013730a.pdf

F. Eisinger, B. Bressac, D. Castaigne, P. Cottu, J. Lansac et al., Identification et prise en charge des prédispositions héréditaires aux cancers du sein et de l'ovaire (mise à jour, Bull Cancer, vol.91, issue.3, pp.219-256, 2004.
DOI : 10.1016/j.patbio.2006.02.002

D. Evans, D. Eccles, N. Rahman, K. Young, M. Bulman et al., A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO, Journal of Medical Genetics, vol.41, issue.6, pp.474-80, 2004.
DOI : 10.1136/jmg.2003.017996

D. Evans, F. Lalloo, A. Wallace, and N. Rahman, Update on the Manchester Scoring System for BRCA1 and BRCA2 testing, Journal of Medical Genetics, vol.42, issue.7, p.39, 2005.
DOI : 10.1136/jmg.2005.031989

W. Mclaren, L. Gil, S. Hunt, H. Riat, G. Ritchie et al., The Ensembl Variant Effect Predictor, Genome Biology, vol.42, issue.8, p.122, 2016.
DOI : 10.1093/nar/gku1206

C. Xie and M. Tammi, CNV-seq, a new method to detect copy number variation using high-throughput sequencing, BMC Bioinformatics, vol.10, issue.1, p.80, 2009.
DOI : 10.1186/1471-2105-10-80

. Ensembl, Available from: https, Variant Effect Predictor. [Internet], 2017.

S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med Off J Am Coll Med Genet, 2015.

F. Couch, H. Shimelis, C. Hu, S. Hart, E. Polley et al., Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer, JAMA Oncology, vol.3, issue.9, pp.1190-1196, 2017.
DOI : 10.1001/jamaoncol.2017.0424

T. Heikkinen, H. Kärkkäinen, K. Aaltonen, R. Milne, P. Heikkilä et al., The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated with an Aggressive Tumor Phenotype, Clinical Cancer Research, vol.15, issue.9, pp.3214-3236, 2009.
DOI : 10.1158/1078-0432.CCR-08-3128

F. Ancot, S. Arcand, A. Mes-masson, D. Provencher, and P. Tonin, Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population, Oncology Letters, vol.9, issue.6, p.2015
DOI : 10.3892/ol.2015.3123

B. Downs, Y. Kim, F. Xiao, C. Snyder, P. Chen et al., Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer, Breast Cancer Research and Treatment, vol.490, issue.R1, pp.219-243
DOI : 10.1038/nature11412

N. Roberts, Y. Jiao, J. Yu, L. Kopelovich, G. Petersen et al., ATM mutations in hereditary pancreatic cancer patients. Cancer Discov, pp.41-47, 2012.

P. Fong, D. Boss, T. Yap, A. Tutt, P. Wu et al., Mutation Carriers, New England Journal of Medicine, vol.361, issue.2, pp.123-157, 2009.
DOI : 10.1056/NEJMoa0900212