H. Lynch and A. De-la-chapelle, Genetic susceptibility to nonpolyposis colorectal cancer, J Med Genet, vol.36, pp.801-818, 1999.

H. Vasen, J. Mecklin, P. Khan, and H. Lynch, The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC), Diseases of the Colon & Rectum, vol.34, issue.5, pp.424-425, 1991.
DOI : 10.1007/BF02053699

H. Vasen, P. Watson, J. Mecklin, and H. Lynch, New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC???, Gastroenterology, vol.116, issue.6, pp.1453-1456, 1999.
DOI : 10.1016/S0016-5085(99)70510-X

M. Aarnio, J. Mecklin, L. Aaltonen, M. Nyström-lahti, and H. Järvinen, Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (hnpcc) syndrome, International Journal of Cancer, vol.6, issue.6, pp.430-433, 1995.
DOI : 10.1002/ijc.2910640613

D. Voskuil, H. Vasen, and E. Kampman, Colorectal cancer risk in HNPCC families: Development during lifetime and in successive generations, International Journal of Cancer, vol.71, issue.2, pp.205-209, 1997.
DOI : 10.1002/(SICI)1097-0215(19970717)72:2<205::AID-IJC1>3.0.CO;2-V

H. Vasen, J. Wijnen, and F. Menko, Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis, Gastroenterology, vol.110, issue.4, pp.1020-1027, 1996.
DOI : 10.1053/gast.1996.v110.pm8612988

K. Lin, M. Shashidharan, and A. Thorson, Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer, Journal of Gastrointestinal Surgery, vol.2, issue.1, pp.67-71, 1979.
DOI : 10.1016/S1091-255X(98)80105-4

M. Aarnio, R. Sankila, and E. Pukkala, Cancer risk in mutation carriers of DNA???mismatch???repair genes, International Journal of Cancer, vol.81, issue.2, pp.214-218, 1999.
DOI : 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.3.CO;2-C

H. Vasen, A. Stormorken, and F. Menko, Mutation Carriers: A Study of Hereditary Nonpolyposis Colorectal Cancer Families, Journal of Clinical Oncology, vol.19, issue.20, pp.4074-4080, 2001.
DOI : 10.1200/JCO.2001.19.20.4074

J. Carayol, M. Khlat, J. Maccario, and C. Bona?¨tibona?¨ti-pellié, Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated, Journal of Medical Genetics, vol.39, issue.5, pp.335-339, 2002.
DOI : 10.1136/jmg.39.5.335

M. Dunlop, S. Farrington, and A. Carothers, Cancer risk associated with germline DNA mismatch repair gene mutations, Human Molecular Genetics, vol.6, issue.1, pp.105-110, 1997.
DOI : 10.1093/hmg/6.1.105

Y. Parc, C. Boisson, G. Thomas, and S. Olschwang, Cancer risk in 348 French MSH2 or MLH1 gene carriers, Journal of Medical Genetics, vol.40, issue.3, pp.208-213, 2003.
DOI : 10.1136/jmg.40.3.208

F. Quehenberger, H. Vasen, and H. Van-houwelingen, Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment, Journal of Medical Genetics, vol.42, issue.6, pp.491-496, 2005.
DOI : 10.1136/jmg.2004.024299

J. Carayol and C. Bona?¨tibona?¨ti-pellié, Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset, Genetic Epidemiology, vol.72, issue.Suppl, pp.109-117, 2004.
DOI : 10.1002/gepi.20007

URL : https://hal.archives-ouvertes.fr/inserm-00359199

P. Kraft and D. Thomas, Bias and Efficiency in Family-Based Gene-Characterization Studies: Conditional, Prospective, Retrospective, and Joint Likelihoods, The American Journal of Human Genetics, vol.66, issue.3, pp.1119-1131, 2000.
DOI : 10.1086/302808

R. Sposto, Cure model analysis in cancer: an application to data from the Children's Cancer Group, Statistics in Medicine, vol.1, issue.2, pp.293-312, 2002.
DOI : 10.1002/sim.987

V. Planté-bordeneuve, J. Carayol, and A. Ferreira, Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families, Journal of Medical Genetics, vol.40, issue.11, p.120, 2003.
DOI : 10.1136/jmg.40.11.e120

J. Lalouel, GEMINI ? a computer program for optimization of general non linear functions, 1979.

Q. Wang, C. Lasset, and F. Desseigne, Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer, Human Genetics, vol.105, issue.1-2, pp.79-85, 1999.
DOI : 10.1007/s004399900064

L. Remontet, J. Esteve, and A. Bouvier, Cancer incidence and mortality in France over the period, Rev Epidemiol Sante Publique, vol.51, pp.3-30, 1978.
URL : https://hal.archives-ouvertes.fr/hal-00428273

M. Ponz-de-leon, P. Benatti, D. Gregorio, and C. , Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer, British Journal of Cancer, vol.90, issue.4, pp.882-887, 2004.
DOI : 10.1038/sj.bjc.6601529

L. Abel and G. Bonney, A time-dependent logistic hazard function for modeling variable age of onset in analysis of familial diseases, Genetic Epidemiology, vol.39, issue.4, 1990.
DOI : 10.1002/gepi.1370070602

F. Alarcon, C. Lasset, J. Carayol, V. Bonadona, H. Perdry et al., Estimating cancer risk in HNPCC by the GRL method, European Journal of Human Genetics, vol.90, issue.8, pp.831-836, 2007.
DOI : 10.1038/sj.ejhg.5201843

URL : https://hal.archives-ouvertes.fr/inserm-00150114

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.1117-1130, 2003.
DOI : 10.1086/375033

V. Bonadona, O. Sinilnikova, S. Chopin, A. Antoniou, H. Mignotte et al., Contribution ofBRCA1 andBRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France, Genes, Chromosomes and Cancer, vol.378, issue.4, pp.404-413, 2005.
DOI : 10.1002/gcc.20199

C. Cannings and E. Thompson, Ascertainment in the sequential sampling of pedigrees, Clinical Genetics, vol.23, issue.4, pp.208-212, 1977.
DOI : 10.1111/j.1399-0004.1977.tb00928.x

J. Carayol and C. Bonaiti-pellie, Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset, Genetic Epidemiology, vol.72, issue.Suppl, pp.109-117, 2004.
DOI : 10.1002/gepi.20007

URL : https://hal.archives-ouvertes.fr/inserm-00359199

J. Carayol, M. Khlat, J. Maccario, and C. Bonaiti-pellie, Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated, Journal of Medical Genetics, vol.39, issue.5, pp.335-339, 2002.
DOI : 10.1136/jmg.39.5.335

A. Chompret, A. Abel, D. Stoppa-lyonnet, L. Brugieres, S. Pages et al., Sensitivity and predictive value of criteria for p53germline mutation screening, Journal of Medical Genetics, vol.38, issue.1, pp.43-47, 2001.
DOI : 10.1136/jmg.38.1.43

J. Crow, J. Neel, M. Shaw, and W. Schull, Problems of ascertainment in the analysis of family data, Genetics and the Epidemiology of Chronic Disease, 1965.

M. Dunlop, S. Farrington, A. Carothers, A. Wyllie, L. Sharp et al., Cancer risk associated with germline DNA mismatch repair gene mutations, Human Molecular Genetics, vol.6, issue.1, pp.105-110, 1997.
DOI : 10.1093/hmg/6.1.105

D. Easton, D. Ford, and D. Bishop, Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium, Am J Hum Genet, vol.56, pp.265-271, 1995.

F. Eisinger, N. Alby, A. Bremond, J. Dauplat, M. Espie et al., Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee, Annals of Oncology, vol.9, issue.9, pp.939-950, 1998.
DOI : 10.1023/A:1008389021382

R. Elston and J. Stewart, A General Model for the Genetic Analysis of Pedigree Data, Human Heredity, vol.21, issue.6, pp.523-542, 1971.
DOI : 10.1159/000152448

R. Fisher, THE EFFECT OF METHODS OF ASCERTAINMENT UPON THE ESTIMATION OF FREQUENCIES, Annals of Eugenics, vol.25, issue.1, pp.13-25, 1934.
DOI : 10.1111/j.1469-1809.1934.tb02105.x

D. Ford, D. Easton, M. Stratton, S. Narod, D. Goldgar et al., Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families, The American Journal of Human Genetics, vol.62, issue.3, pp.676-689, 1998.
DOI : 10.1086/301749

M. Gail, D. Pee, J. Benichou, and R. Carroll, Designing studies to estimate the penetrance of an identified autosomal dominant mutation: cohort, case?control, and genotyped-proband designs, 1999.

G. Gong and A. Whittemore, Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene, Genetic Epidemiology, vol.16, issue.3, 2003.
DOI : 10.1002/gepi.10219

P. Kraft and D. Thomas, Bias and Efficiency in Family-Based Gene-Characterization Studies: Conditional, Prospective, Retrospective, and Joint Likelihoods, The American Journal of Human Genetics, vol.66, issue.3, pp.1119-1131, 2000.
DOI : 10.1086/302808

J. Lalouel, GEMINI: a computer program for optimization of general non linear function, 1979.

L. Bihan, C. Moutou, C. Brugieres, L. Feunteun, J. Bonaiti-pellie et al., ARCAD: A method for estimating age-dependent disease risk associated with mutation carrier status from family data, Genetic Epidemiology, vol.326, issue.3, pp.13-25, 1995.
DOI : 10.1002/gepi.1370120103

N. Morton, Genetic tests under incomplete ascertainment, Am J Hum Genet, vol.11, pp.1-16, 1959.

S. Pennec, La place des familles a quatre generations en France, Population (French Edition), vol.51, issue.1, pp.31-60, 1996.
DOI : 10.2307/1534657

V. Plante-bordeneuve, J. Carayol, A. Ferreira, D. Adams, F. Clerget-darpoux et al., Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families, Journal of Medical Genetics, vol.40, issue.11, p.120, 2003.
DOI : 10.1136/jmg.40.11.e120

D. Stoppa-lyonnet, P. Laurent-puig, L. Essioux, S. Pages, G. Ithier et al., BRCA1 sequence variations in 160 individuals referred to a breast/ ovarian family cancer clinic, 1997.

V. Vieland and S. Hodge, Inherent intractability of the ascertainment problem for pedigree data: a general likelihood framework, 1995.

S. Wacholder, P. Hartge, J. Struewing, D. Pee, M. Mcadams et al., The Kin-Cohort Study for Estimating Penetrance, American Journal of Epidemiology, vol.148, issue.7, 1998.
DOI : 10.1093/aje/148.7.623

T. Wagner, D. Stoppa-lyonnet, E. Fleischmann, D. Muhr, S. Pages et al., Denaturing High-Performance Liquid Chromatography Detects Reliably BRCA1 and BRCA2 Mutations, Genomics, vol.62, issue.3, pp.369-376, 2000.
DOI : 10.1006/geno.1999.6026

W. Weinberg, Method und Fehlerquellen der Untersuchung auf Mendleschen Zahlen Beim Menschen, Arch Rass u Ges Biol, vol.9, pp.165-174, 1912.

R. 1. Plante-bordeneuve, V. Said, and G. , Transthyretin related familial amyloid polyneuropathy, Current Opinion in Neurology, vol.13, issue.5, pp.569-573, 2000.
DOI : 10.1097/00019052-200010000-00011

O. Suhr, A. Danielsson, G. Holmgren, and L. Steen, Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy, Journal of Internal Medicine, vol.79, issue.Suppl. 590, pp.479-485, 1994.
DOI : 10.1111/j.1365-2796.1994.tb01106.x

O. Suhr, G. Holmgren, L. Steen, L. Wikstrom, G. Norden et al., LIVER TRANSPLANTATION IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY FOLLOW-UP OF THE FIRST 20 SWEDISH PATIENTS, Transplantation, vol.60, issue.9, pp.933-938, 1995.
DOI : 10.1097/00007890-199511150-00009

D. Adams, D. Samuel, C. Goulon-goeau, M. Nakazato, P. Costa et al., The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation, Brain, vol.123, issue.7, pp.1495-1504, 2000.
DOI : 10.1093/brain/123.7.1495

C. Andrade, A PECULIAR FORM OF PERIPHERAL NEUROPATHY, Brain, vol.75, issue.3, pp.408-427, 1952.
DOI : 10.1093/brain/75.3.408

M. Reilly, D. Adams, D. Booth, M. Davis, G. Said et al., Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy, Brain, vol.118, issue.4, pp.849-856, 1995.
DOI : 10.1093/brain/118.4.849

S. Ikeda, M. Nakazato, Y. Ando, and G. Sobue, Familial transthyretin-type amyloid polyneuropathy in Japan: Clinical and genetic heterogeneity, Neurology, vol.58, issue.7, pp.1001-1007, 2002.
DOI : 10.1212/WNL.58.7.1001

A. Sousa, R. Andersson, U. Drugge, G. Holmgren, and O. Sandgren, Familial Amyloidotic Polyneuropathy in Sweden: Geographical Distribution, Age of Onset, and Prevalence, Human Heredity, vol.43, issue.5, pp.288-294, 1993.
DOI : 10.1159/000154146

M. Saraiva, Transthyretin mutations in hyperthyroxinemia and amyloid diseases, Human Mutation, vol.1, issue.6, pp.493-503, 2001.
DOI : 10.1002/humu.1132

A. Sousa, T. Coelho, J. Barros, and J. Sequeiros, Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in P??voa do Varzim and Vila do Conde (north of Portugal), American Journal of Medical Genetics, vol.116, issue.6, pp.512-521, 1995.
DOI : 10.1002/ajmg.1320600606

G. Holmgren, P. Costa, C. Andersson, K. Asplund, L. Steen et al., Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate., Journal of Medical Genetics, vol.31, issue.5, pp.351-354, 1994.
DOI : 10.1136/jmg.31.5.351

U. Drugge, R. Andersson, F. Chizari, M. Danielsson, G. Holmgren et al., Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis., Journal of Medical Genetics, vol.30, issue.5, pp.388-392, 1993.
DOI : 10.1136/jmg.30.5.388

V. Plante-bordeneuve, J. Carayol, A. Ferreira, D. Adams, F. Clerget-darpoux et al., Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families, Journal of Medical Genetics, vol.40, issue.11, p.120, 2003.
DOI : 10.1136/jmg.40.11.e120

G. Holmgren, S. Bergstrom, U. Drugge, E. Lundgren, C. Nording-sikstrom et al., Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences, Clinical Genetics, vol.125, issue.Suppl 3, pp.39-41, 1992.
DOI : 10.1111/j.1399-0004.1992.tb03627.x

U. Fuchs, A. Zittermann, O. Suhr, G. Holmgren, G. Tenderich et al., Heart Transplantation in a 68-Year-Old Patient with Senile Systemic Amyloidosis, American Journal of Transplantation, vol.317, issue.5, pp.1159-1162, 2005.
DOI : 10.1016/j.healun.2003.08.027

R. Sposto, Cure model analysis in cancer: an application to data from the Children's Cancer Group, Statistics in Medicine, vol.1, issue.2, pp.293-312, 2002.
DOI : 10.1002/sim.987

Y. Ando, N. Nyhlin, O. Suhr, G. Holmgren, K. Uchida et al., Oxidative Stress Is Found in Amyloid Deposits in Systemic Amyloidosis, Biochemical and Biophysical Research Communications, vol.232, issue.2, pp.497-502, 1997.
DOI : 10.1006/bbrc.1996.5997

N. Nyhlin, Y. Ando, R. Nagai, O. Suhr, E. Sahly et al., Advanced glycation end product in familial amyloidotic polyneuropathy (FAP), Journal of Internal Medicine, vol.92, issue.4, pp.485-492, 2000.
DOI : 10.1006/bbrc.1996.5997

L. Hardell, G. Holmgren, L. Steen, M. Fredrikson, and O. Axelson, Occupational and Other Risk Factors for Clinically Overt Familial Amyloid Polyneuropathy, Epidemiology, vol.6, issue.6, pp.598-601, 1995.
DOI : 10.1097/00001648-199511000-00006

G. Holmgren, L. Wikstrom, H. Lundgren, and O. Suhr, Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins, Journal of Internal Medicine, vol.58, issue.4, pp.453-456, 2004.
DOI : 10.1111/j.1365-2796.2004.01399.x

K. Yamamoto, S. Ikeda, N. Hanyu, S. Takeda, and N. Yanagisawa, A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy., Journal of Medical Genetics, vol.35, issue.1, pp.23-30, 1998.
DOI : 10.1136/jmg.35.1.23

G. Said, A. Ropert, and N. Faux, Length-dependent degeneration of fibers in Portuguese amyloid poly neuropathy: A clinicopathologic study, Neurology, vol.34, issue.8, pp.1025-1032, 1984.
DOI : 10.1212/WNL.34.8.1025

V. Planté-bordeneuve, J. Carayol, A. Ferreira, D. Adams, F. Clerget-darpoux et al., Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families, Journal of Medical Genetics, vol.40, issue.11, p.120, 2003.
DOI : 10.1136/jmg.40.11.e120

U. Hellman, F. Alarcon, H. Lundgren, O. Suhr, C. Bonaiti-pellié et al., Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population, Amyloid, vol.6, issue.3, pp.181-187, 2008.
DOI : 10.1136/jmg.35.1.23

URL : https://hal.archives-ouvertes.fr/inserm-00359758

G. Holmgren, P. Costa, C. Andersson, K. Asplund, L. Steen et al., Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate., Journal of Medical Genetics, vol.31, issue.5, pp.351-354, 1994.
DOI : 10.1136/jmg.31.5.351

A. Sousa, T. Coelho, J. Barros, and J. Sequeiros, Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in P??voa do Varzim and Vila do Conde (north of Portugal), American Journal of Medical Genetics, vol.116, issue.6
DOI : 10.1002/ajmg.1320600606

F. Alarcon, C. Bourgain, M. Gauthier-villars, V. Planté-bordeneuve, D. Stoppa-lyonnet et al., PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history, Genetic Epidemiology, vol.9, issue.5
DOI : 10.1002/gepi.20390

URL : https://hal.archives-ouvertes.fr/inserm-00358140

K. Okamura, Y. Hagiwara-takeuchi, T. Li, T. Vu, M. Hirai et al., Comparative Genome Analysis of the Mouse Imprinted Gene Impact and Its Nonimprinted Human Homolog IMPACT: Toward the Structural Basis for Species-Specific Imprinting, Genome Research, vol.10, issue.12, pp.1878-1889, 2000.
DOI : 10.1101/gr.139200

F. Alarcon, C. Bourgain, M. Gautier-villars, V. Planté-bordeneuve, D. Stoppa-lyonnet et al., PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history, Genetic Epidemiology, vol.9, issue.5, 2008.
DOI : 10.1002/gepi.20390

URL : https://hal.archives-ouvertes.fr/inserm-00358140

P. Bertail, H. Harari-kermadec, and D. Ravaille, ?? -Divergence empirique et vraisemblance empirique g??n??ralis??e, Annales d'??conomie et de Statistique, vol.85, issue.85, pp.131-157, 2007.
DOI : 10.2307/20079183

V. Bonadona, O. Sinilnikova, S. Chopin, A. Antoniou, H. Mignotte et al., Contribution ofBRCA1 andBRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France, Genes, Chromosomes and Cancer, vol.378, issue.4, pp.404-413, 2005.
DOI : 10.1002/gcc.20199

J. Carayol and C. Bona?¨tibona?¨ti-pellié, Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset, Genetic Epidemiology, vol.72, issue.Suppl, pp.109-117, 2004.
DOI : 10.1002/gepi.20007

URL : https://hal.archives-ouvertes.fr/inserm-00359199

E. Claus, N. Risch, and W. Thompson, AGE AT ONSET AS AN INDICATOR OF FAMILIAL RISK OF BREAST CANCER, American Journal of Epidemiology, vol.131, issue.6, pp.961-972, 1990.
DOI : 10.1093/oxfordjournals.aje.a115616

J. Crow, J. Neel, M. Shaw, and W. Schull, Problems of ascertainment in the analysis of family data Genetics and the Epidemiology of Chronic Disease, 1965.

M. Dunlop, S. Farrington, A. Carothers, A. Wyllie, L. Sharp et al., Cancer risk associated with germline DNA mismatch repair gene mutations, Human Molecular Genetics, vol.6, issue.1, pp.105-110, 1997.
DOI : 10.1093/hmg/6.1.105

P. Kraft and T. D. , Bias and Efficiency in Family-Based Gene-Characterization Studies: Conditional, Prospective, Retrospective, and Joint Likelihoods, The American Journal of Human Genetics, vol.66, issue.3, pp.1119-1131, 2000.
DOI : 10.1086/302808

J. Lalouel, GEMINI: a computer program for optimization of general nonlinear functions, 1979.

L. Bihan, C. Moutou, C. Brugieres, L. Feunteun, J. Bona?¨tibona?¨ti-pellié et al., ARCAD: A method for estimating age-dependent disease risk associated with mutation carrier status from family data, Genetic Epidemiology, vol.326, issue.3, pp.13-25, 1995.
DOI : 10.1002/gepi.1370120103

A. Owen, Empirical likelihood. Boca Raton, 2001.

V. Plante-bordeneuve, J. Carayol, A. Ferreira, D. Adams, F. Clerget-darpoux et al., Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families, Journal of Medical Genetics, vol.40, issue.11, pp.793-796, 2003.
DOI : 10.1136/jmg.40.11.e120

. Weinberg, Methode und Fehlerquellen der Untersuchung auf Mendleschen Zahlen beim Menschen, Arch Rass u Ges Biol, vol.9, pp.165-174, 1912.

F. Alarcon, C. Lasset, J. Carayol, V. Bonadona, H. Perdry et al., Publications Revues à comité de lecture, articles publiés ou sous presse

C. Pellié, Estimating cancer risk in HNPCC by the GRL method, European Journal of Human Genetics, vol.15, pp.831-836, 2007.

F. Alarcon, C. Bonaïti-pellié, and H. Harari-kermadec, A nonparametric method for penetrance function estimation, Genetic Epidemiology, vol.9, issue.1, pp.38-44, 2008.
DOI : 10.1002/gepi.20354

URL : https://hal.archives-ouvertes.fr/inserm-00359205

C. Bonaïti-pellié, PEL : An unbiased method for estimating age-dependence genetic disease risk from pedigree data unselected for family history, Online) [J4] Hellman, 2008.

A. F. Communications-orales, B. Bourgain-c, N. C. , C. J. , A. F. et al., Quantifying the bias in disease risk estimates associated with a deleterious mutation using families ascertained through one affected individual, European Mathematical Genetics Meeting, 2006.

L. D. , B. P. , F. Jp, . Le-groupe-génétique, A. N. Cancer et al., Estimation du risque de cancer associé aux gènes BRCA : étude GE- NECAN, Congrès ADELF-EPITER Rev Epidemiol Sante Publique, vol.54, issue.HS2, pp.2-16, 2006.

P. , B. B. Alarcon-f, and B. , Parentof-origin effect in Transthyretin related amyloid polyneuropathy, International Amyloidosis Symposium, pp.2-5, 2008.

A. F. Bourgain-c, P. , and S. C. Bonaïti-pellié, Importance du choix de la méthode dans l'estimation des risques associés à des mutations génétiques, pp.17-19

P. , B. B. Alarcon-f, and B. , Parentof-origin effect in Transthyretin related amyloid polyneuropathy. Meeting de l, pp.25-27, 2009.

A. , L. And-bonney, and G. , A Time-Dependent Logistic Hazard Function for Modeling Variable Age of Onset in Analysis of Familial Diseases, Genetic Epidemiology, vol.7, pp.391-407, 1990.

A. , F. Lasset, C. Carayol, J. Bonadona, V. Perdry et al., Estimating cancer risk in HNPCC by the GRL method, European Journal of Human Genetics, vol.15, pp.831-836, 2007.
URL : https://hal.archives-ouvertes.fr/inserm-00150114

B. , A. Grosclaude, P. Bossard, N. Jougla, E. Benhamou et al., Cancer incidence and mortality in France over the period, 1980.
URL : https://hal.archives-ouvertes.fr/hal-00538673

B. , P. Harari-kermadec, H. And-ravaille, and D. , ?-Divergence empirique et vraisemblance empirique generalisee, Ann Econ Stat, vol.85, pp.131-157, 2007.

B. , V. Sinilnikova, O. Chopin, S. Antoniou, A. Mignotte et al., Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women : results from a prospective population-based study in France, Genes Chromosomes Cancer, vol.43, issue.4, pp.404-417, 2005.

G. Bonney, Regressive Logistic Models for Familial Disease and Other Binary Traits, Biometrics, vol.42, issue.3, pp.611-636, 1986.
DOI : 10.2307/2531211

C. , C. And-thompson, and E. , Ascertainment in the sequential sampling of pedigrees, Clinical Genetics, vol.12, issue.4, pp.208-212, 1977.

C. , J. And-bonaiti-pellie, and C. , Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset, Genetic Epidemiology, vol.27, issue.2, pp.109-117, 2004.

C. , J. Khlat, M. Maccario, J. And-bonaiti-pellie, and C. , Hereditary nonpolyposis colorectal cancer : current risks of colorectal cancer largely overestimated, 2002.

C. , A. Abel, A. Stoppa-lyonnet, D. Brugiere, L. Pages et al., Sensitivity and predictive value of criteria for p53 germline mutation screening, J Med Genet, vol.38, issue.1, pp.43-50, 2001.

C. , A. Brugiere, L. Gardes, M. Dessarps-freichey, F. Abel et al., P53 germline mutations in childhood cancers and cancer risk for carrier individuals, Br J Cancer, vol.82, issue.1, pp.1932-1937, 2000.

C. , F. Bonaiti-pellie, C. And-hochez, and J. , Effects of misspecifying genetic parameters in lod score analysis, Biometrics, vol.42, issue.2, pp.393-402, 1986.

D. , U. Andersson, R. Chizari, F. Danielsson, M. Holmgren et al., Familial amyloidotic polyneuropathy in Sweden : a pedigree analysis, Journal of Medical Genetics, vol.30, issue.5, pp.388-392, 1993.

D. , M. Farrington, S. Carothers, A. Wyllie, A. Sharp et al., Cancer risk associated with germline DNA mismatch repair gene mutations, Hum Mol Genet, vol.6, issue.1, pp.105-110, 1997.

E. , D. Ford, D. And-bishop, and T. , Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium, American Journal of Human Genetics, vol.56, issue.1, p.265, 1995.

E. , R. And-stewart, and J. , A general model for the genetic analysis of pedigree data, Hum Hered, vol.21, issue.6, pp.523-565, 1971.

F. , D. Easton, D. Stratton, M. Narod, S. Goldgar et al., Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families, The American Journal of Human Genetics, vol.62, issue.3, pp.676-689, 1998.

G. , M. Pee, D. Benichou, J. And, C. et al., Designing studies to estimate the penetrance of an identified autosomal dominant mutation : cohort, case-control, and genotyped-proband designs, Genetic epidemiology, vol.16, issue.1, p.15, 1999.

G. , G. And-whittemore, and A. , Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene, Genetic Epidemiology, vol.24, issue.3, pp.173-180, 2003.

G. , J. Driscoll, M. Barnes, A. Maher, E. Bridge et al., Impact of Gender and Parent of Origin on the Phenotypic Expression of Hereditary Nonpolyposis Colorectal Cancer in a Large Newfoundland Kindred With a Common MSH2 Mutation, Colon and Rectum, vol.45, pp.9-1223, 2002.

H. , L. Holmgren, G. Steen, L. Fredrikson, M. And-axelson et al., Occupational and other risk factors for clinically overt familial amyloid polyneuropathy, Epidemiology, vol.6, issue.6, pp.598-601, 1995.

H. , G. Costa, P. Andersson, C. Asplund, K. Steen et al., Geographical distribution of TTR met 30 carriers in northern Sweden, J Med Genetic, pp.31-351, 1994.

P. Kraft and D. And-thomas, Bias and Efficiency in Family-Based

L. and J. Gemini, A Computer Program for Optimization of General Nonlinear Functions, 1979.

L. , J. Rao, D. Morton, N. And-elston, and R. , A unified model for complex segregation analysis, American Journal of Human Genetics, vol.35, pp.5-816, 1983.

L. Bihan, C. Moutou, C. Brugieres, L. Feunteun, J. And-bonaiti-pellie et al., ARCAD: A method for estimating age-dependent disease risk associated with mutation carrier status from family data, Genetic Epidemiology, vol.326, issue.3, pp.13-25, 1995.
DOI : 10.1002/gepi.1370120103

M. , N. And-maclean, and C. , Analysis of family resemblance. 3. Complex segregation of quantitative traits, American Journal of Human Genetics, vol.26, issue.4, p.489, 1974.

O. , M. Hellman, U. Planté-bordeneuve, V. Jonasson, J. Lang et al., Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in swedish and french patients, Clinical Genetics Sous presse, 2008.

Q. , J. And-lawless, and J. , Empirical likelihood and general estimating equations, Annals of Statistics, vol.22, pp.300-300, 1994.

A. Sousa, T. Coelho, J. Barros, and J. And-sequeiros, Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in P??voa do Varzim and Vila do Conde (north of Portugal), American Journal of Medical Genetics, vol.116, issue.6, pp.60-512, 1995.
DOI : 10.1002/ajmg.1320600606

. Van-der and A. Vaart, Asymptotic statistics Cambridge Series in Statistical and Probabilistic Mathematics, 1998.

V. , H. Mecklin, J. Meera-khan, P. And-lynch, and H. , The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC), Diseases of the Colon & Rectum, vol.34, issue.5, pp.424-425, 1991.

W. , S. Hartge, P. Struewing, J. Pee, D. Mcadams et al., The Kin-Cohort Study for Estimating Penetrance, American Journal of Epidemiology, vol.148, issue.7, pp.623-630, 1998.

. Weinberg, Method und Fehlerquellen der Untersuchung auf Mendleschen Zahlen Beim Menschen, Arch. Rass.u.Ges.Biol, vol.9, pp.165-174, 1912.