Cancer genetics: Estimation of the needs of the population in France for the next ten years;Oncogénétique: Estimation des besoins de la population en France pour les dix ans à venir

Bulletin du Cancer

Volumn 96, Issue 9, 2009, Pages 875-900

  Bonaiti Pellie C ^a,b   Andrieu, N ^c,d,e   Arveux, P ^f   Bonadona, V ^g,h,i   Buecher, B ^d,j   Delpech, M ^a,k,l   Jolly, D ^m   Julian Reynier, C ^n,o,p   Luporsi, E ^q   Nogues C ^a,r   Nowak, F ^s   Olschwang, S ^p,t   Orsi, F ^n,o,p   Pujol, P ^u,v,w   Saurin, J C ^y   Sinilnikova, O ^g,h,i,x   Stoppa Lyonnet, D ^d,k   Thepot F ^y  

^a INSERM   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c INSERM U900   (France)

^d INSTITUT CURIE   (France)

^e PSL RESEARCH UNIVERSITY   (France)

^f CENTRE GEORGES FRANÇOIS LECLERC   (France)

^g UNIVERSITÉ DE LYON   (France)

^h CNRS   (France)

ⁱ CENTRE LÉON BÉRARD   (France)

^j HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^k UNIVERSITÉ PARIS DESCARTES   (France)

^l ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^m REIMS UNIVERSITY HOSPITAL   (France)

ⁿ AIX MARSEILLE UNIV   (France)

^o AIX MARSEILLE UNIVERSITY   (France)

^p INSTITUT PAOLI CALMETTES   (France)

^q CENTRE ALEXIS VAUTRIN   (France)

^r CENTRE RENÉ HUGUENIN   (France)

^s INSTITUT NATIONAL DU CANCER   (France)

^t AIX MARSEILLE UNIVERSITY   (France)

^u MONTPELLIER UNIVERSITY HOSPITAL   (France)

^v INSTITUT DE RECHERCHE EN CANCÉROLOGIE DE MONTPELLIER   (France)

^w CENTRE VAL D AURELLE   (France)

^x HOSPICES CIVILS DE LYON   (France)

^y Agence de la Biomedecine   (France)

more..

Author keywords

BRCA1; BRCA2; Cancer; Cancer genetics; Hereditary predisposition; Management; MMR genes; Mutation; MYH

Indexed keywords

CANCER GENETICS; CANCER INCIDENCE; CANCER MORTALITY; CANCER SCREENING; CANCER SUSCEPTIBILITY; FAMILIAL CANCER; FRANCE; GENETIC COUNSELING; GENETIC PREDISPOSITION; HIGH RISK POPULATION; HUMAN; MISMATCH REPAIR; ONCOGENE; OVARY CANCER; REVIEW; AGE; BREAST TUMOR; COLORECTAL TUMOR; FEMALE; FORECASTING; GENETIC SCREENING; GENETICS; HEALTH SERVICE; MALE; MUTATION; NEOPLASM; ORGANIZATION AND MANAGEMENT; OVARY TUMOR; PSYCHOLOGICAL ASPECT; STATISTICS; TUMOR SUPPRESSOR GENE;

AGE FACTORS; BREAST NEOPLASMS; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; FORECASTING; FRANCE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEALTH SERVICES NEEDS AND DEMAND; HUMANS; MALE; MUTATION; NEOPLASMS; OVARIAN NEOPLASMS;

EID: 70350072363     PISSN: 00074551     EISSN: 17696917     Source Type: Journal    
DOI: 10.1684/bdc.2009.0943     Document Type: Review

References (91)

1. Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003 ; 72 : 1117-1130 (Pubitemid 36530000)
2. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007 ; 25 : 1329-1333
3. Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, et al. RAD51 135G - >C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 2007 ; 81 : 1186-1200 (Pubitemid 350211449)
4. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 2008 ; 82 : 937-948
5. Eisinger F, Bressac B, Castaigne D, Cottu PH, Lansac J, Lefranc JP, et al. Identification et prise en charge des prédispositions héréditaires aux cancers du sein et de l'ovaire. Bull Cancer 2004 ; 91 : 219-237 (Pubitemid 38534706)
6. Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, Mathevet P, 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 2005 ; 43 : 404-413 (Pubitemid 40946475)
7. Alarcon F, Bourgain C, Gauthier-Villars M, Planté-Bordeneuve V, Stoppa-Lyonnet D, Bonaïti-Pellié C. PEL: an unbiased method for estimating age dependent genetic disease risk from pedigree data unselected for family history. Genet Epidemiol 2009 ; 33 : 379-385
8. Møller P, Hagen AI, Apold J, Maehle L, Clark N, Fiane B, et al. Genetic epidemiology of BRCA mutations - family history detects less than 50% of the mutation carriers. Eur J Cancer 2007 ; 43 : 1713-1717 (Pubitemid 47049678)
9. Recommandations pour la pratique clinique de Saint-Paul de Vence. Oncologie 2007 : 593-644.
10. Robson M, Offit K. Clinical practice. Management of an inherited predisposition to breast cancer. N Engl J Med 2007 ; 357 : 154-162 (Pubitemid 47057733)
11. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van't Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol 2004 ; 22 : 1055-1062 (Pubitemid 41095038)
12. Kauff ND, Domchek SM, Friebel TM, Robson ME, Lee J, Garber JE, et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2 - associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 2008 ; 26 : 1331-1337
13. Tilanus-Linthorst MM, Obdeijn IM, Bartels KC, de Koning HJ, Oudkerk M. First experiences in screening women at high risk for breast cancer with MR imaging. Breast Cancer Res Treat 2000 ; 63 : 53-60. (Pubitemid 30786991)
14. Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 2004 ; 292 : 1317-1325 (Pubitemid 39223222)
15. Plevritis SK, Kurian AW, Sigal BM, Daniel BL, Ikeda DM, Stockdale FE, et al. Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA 2006 ; 295 : 2374-2384 (Pubitemid 43788105)
16. Grann VR, Jacobson JS, Thomason D, Hershman D, Heitjan DF, Neugut AI. Effect of prevention strategies on survival and quality-adjusted survival of women with BRCA1/2 mutations: an updated decision analysis. J Clin Oncol 2002 ; 20 : 2520-2529 (Pubitemid 34525739)
17. Madalinska JB, Hollenstein J, Bleiker E, van Beurden M, Valdimarsdottir HB, Massuger LF, et al. Quality of life effects of prophylactic salpingo-oophorectomy versus gynecologic screening among women at increased risk of hereditary ovarian cancer. J Clin Oncol 2005 ; 23 : 6890-6898 (Pubitemid 46260275)
18. van Oostrom I, Meijers-Heijboer H, Lodder LN, Duivenvoorden HJ, van Gool AR, Seynaeve C, et al. Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol 2003 ; 21 : 3867-3874 (Pubitemid 46606243)
19. Tercyak KP, Peshkin BN, Brogan BM, DeMarco T, Pennanen MF, Willey SC, et al. Quality of life after controlateral prophylactic mastectomy in newly diagnosed high-risk breast cancer patients who underwent BRCA1/2 gene testing. J Clin Oncol 2007 ; 25 : 285-291 (Pubitemid 350003016)
20. Brandberg Y, Sandelin K, Erikson S, Jurell G, Liljegren A, Lindblom A, et al. Psychological reactions, quality of life and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study. J Clin Oncol 2008 ; 26 : 3943-3949
21. Meiser B, Butow P, Friedlander M, Barratt A, Schnieden V, Watson M, et al. Psychological impact of genetic testing in women from high-risk breast-cancer families. Eur J Cancer 2002 ; 38 : 2024-2031
22. Julian-Reynier C. Communication des risques en oncogéné tique: impact sur les croyances et comportements de santé. Revue Francophone de Psycho-Oncologie 2006 ; 5 : 9-13.
23. Foster C, Watson M, Eeles R, Eccles D, Ashley S, Davidson R, et al. Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up. Br J Cancer 2007 ; 96 : 718-724 (Pubitemid 46376618)
24. Dawson SJ, Price MA, Jenkins MA, McKinley JM, Butow PN, McLachlan SA, et al. Cancer risk management practices of noncarriers within BRCA1/2 mutation positive families in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. J Clin Oncol 2008 ; 26 : 225-232
25. Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997 ; 6 : 105-110 (Pubitemid 27033972)
26. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005 ; 42 : 491-496 (Pubitemid 40847237)
27. Jenkins MA, Baglietto L, Dowty JG, Van Vliet CM, Smith L, Mead LJ, et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 2006 ; 4 : 489-498
28. Alarcon F, Lasset C, Carayol J, Bonadona V, Perdry H, Desseigne F, et al. Estimating cancer risk in HNPCC by the GRL method. Eur J Hum Genet 2007 ; 15 : 831-836
29. Watson P, Vasen HFA, Mecklin JP, Bernstein I, Aarnio M, Järvinen HJ, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 2008 ; 123 : 444-449 (Pubitemid 351842032)
30. Bonadona V, Yhuel E, Olschwang S, Lasset C, Grandjouan S, Manouvrier-Hanu S, et al. Estimation des risques tumoraux dans le syndrome HNPCC : l'étude ERISCAM. Med Sci 2008 24 (HSno1) : 18.
31. Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005 ; 293 : 1979-1985 (Pubitemid 40570891)
32. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, et al. Inherited variants of MYH associated with somatic G:C→T: a mutations in colorectal tumors. Nat Genet 2002 ; 30 : 227-232 (Pubitemid 34887721)
33. Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, et al. Autosomal recessive colorectal adematous polyposis due to inherited mutations of MYH. Lancet 2003 ; 362 : 39-41. (Pubitemid 36835819)
34. Jenkins MA, Baglietto L, Dowty JG, Van Vliet CM, Smith L, Mead LJ, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 2006 ; 15 : 312-314
35. Olschwang S, Bonaïti C, Feingold J, Frébourg T, Grandjouan S, Lasset C, et al. Identification et prise en charge du syndrome HNPCC (hereditary nonpolyposis colon cancer), prédisposition héréditaire aux cancers du côlon, du rectum et de l'utérus. Bull Cancer 2004 ; 91 : 303-315 (Pubitemid 38662059)
36. Olschwang S. Germline mutation and genome instability. Eur J Cancer Prev 1999 ; 8 : S33-7.
37. Olschwang S, Paraf F, Laurent-Puig P, Wang Q, Lecuru F, Hamelin R, et al. Contributions récentes pour l'identification et le dépistage du syndrome de Lynch. Gastroenterol Clin Biol 2007 ; 31 : 136-140 (Pubitemid 46396422)
38. Vasen H, Mecklin JP, Meera-Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991 ; 34 : 424-425
39. Rodrigues-Bigas M, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997 ; 89 : 1758-1762
40. Vasen H, Watson P, Mecklin J-P, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999 ; 116 : 1453-1458 (Pubitemid 29258894)
41. Bonaïti-Pellié C, Eisinger F, Feingold J, Frébourg, Grandjouan S, Lasset C, et al. Prédispositions héréditaires au cancer colorectal. Gastroenterol Clin Biol 2005; 29 : 701-710
42. Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome. JAMA 2006 ; 296 : 1507-1517 (Pubitemid 44465515)
43. Vasen HFA, Möslein G, Alonso A, Berntein I, Bertario L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007 ; 44 : 353-362 (Pubitemid 46953715)
44. Mecklin JP, AArnio M, Läärä E, Kairaluoma MV, Pylvänäinen K, Peltomäki P, et al. Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology 2007; 133 : 1093-1098 (Pubitemid 47494464)
45. Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomäki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000 ; 118 : 829-834 (Pubitemid 30243745)
46. Renkonen-Sinisalo L, Bützow R, Leminen A, Lehtovirta P, Mecklin JP, Järvinen HJ. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer 2007 ; 120 : 821-824 (Pubitemid 46175402)
47. Aktan-Collan K, Haukkala A, Mecklin JP, Uutela A, Kääriä inen H. Psychological consequences of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a prospective follow-up study. Int J Cancer 2001 ; 93 : 608-611 (Pubitemid 32701422)
48. Gritz ER, Peterson SK, Vernon SW, Marani SK, Baile WF, Watts BG, et al. Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol 2005 ; 23 : 1902-1910 (Pubitemid 46211368)
49. Collins VR, Meiser B, Ukoumunne OC, Gaff C, St John DJ, Halliday JL. The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing. Genet Med 2007 ; 9 : 290-297 (Pubitemid 46788195)
50. Meiser B, Collins V, Warren R, Gaff C, St John DJ, Young MA, et al. Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer. Clin Genet 2004 ; 66 : 502-511 (Pubitemid 39562012)
51. Shiloh S, Koehly L, Jenkins J, Martin J, Hadley D. Monitoring coping style moderates emotional reactions to genetic testing for hereditary nonpolyposis colorectal cancer: a longitudinal study. Psychooncology 2008 ; 17 : 746-755
52. Christophe V, Leroy T, Adenis C, Reich M, Vennin P. Information spreading about hereditary carriage of a BRCA1/2 mutation and ovarian cancer and rate of consultation of the concerned relatives. Bull Cancer 2008 ; 95 : 395-402. (Pubitemid 351651703)
53. Schwartz MD, Lerman C, Brogan B, Peshkin BN, Halbert CH, DeMarco T, et al. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol 2004 ; 22 : 1823-1829 (Pubitemid 41095172)
54. Lodder L, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, et al. Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet 2001 ; 98 : 15-24. (Pubitemid 32041846)
55. Lodder L, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Seynaeve C, et al. One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Res Treat 2002 ; 73 : 97-112. (Pubitemid 34548153)
56. Lodder L, Frets PG, Trijsburg RW, Klijn JG, Seynaeve C, Tilanus MM, et al. Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing. Am J Med Genet A 2003 ; 119 : 266-272 (Pubitemid 37063852)
57. Phillips KA, Jenkins MA, Lindeman GJ, McLachlan SA, McKinley JM, Weideman PC, et al. Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Clin Genet 2006 ; 70 : 98-206.
58. Gronwald J, Byrski T, Huzarski T, Cybulski C, Stawicka M, Szwiec M, et al. A survey of preventive measures among BRCA1 mutation carriers from Poland. Clin Genet 2007 ; 71 : 153-157 (Pubitemid 46189219)
59. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Møller P, et al. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 2008 ; 2 : 2017-2022
60. Julian-Reynier C, Bouchard LJ, Evans DG, Eisinger FA, Foulkes WD, Kerr B, et al. Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another: differences among English, French, and Canadian women. Cancer 2001 ; 92 : 959-968 (Pubitemid 32783086)
61. Julian-Reynier C, Eisinger F, Moatti JP, Sobol H. Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines. Eur J Hum Genet 2000 ; 8 : 204-208 (Pubitemid 30189864)
62. Bish A, Sutton S, Jacobs C, Levene S, Ramirez A, Hodgson S. No news is (not necessarily) good news: impact of preliminary results for BRCA1 mutation searches. Genet Med 2002 ; 4 : 353-358 (Pubitemid 44698549)
63. Hallowell N, Foster C, Ardern-Jones A, Eeles R, Murday V, Watson M. Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching. Genet Test 2002 ; 6 : 79-87. (Pubitemid 34894235)
64. Dorval M, Gauthier G, Maunsell E, Dugas MJ, Rouleau I, Chiquette J, et al. No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result. Cancer Epidemiol Biomarkers Prev 2005 ; 14 : 2862-2867 (Pubitemid 43068816)
65. Cypowyj C, Eisinger F, Huiart L, Sobol H, Morin M, Julian-Reynier C. Subjective interpretation of inconclusive BRCA1/2 cancer genetic test results and transmission of information to the relatives. Psychooncology 2009 ; 18 : 209-215
66. Vos J, Otten W, van Asperen C, Jansen A, Menko F, Tibben A. The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life. Psychooncology 2008 ; 17 : 822-830
67. Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, et al. BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet 2000 ; 66 : 1259-1272 (Pubitemid 30468783)
68. Risch HA, McLaughlin JR, Cole DEC, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001 ; 68 : 700-710 (Pubitemid 32203724)
69. Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005 ; 104 : 2807-2816 (Pubitemid 41798292)
70. Jacobi CE, van Ierland Y, van Asperen CJ, Hallensleben E, Devilee P, Jan Fleuren G, et al. Prediction of BRCA1/2 mutation status in patients with ovarian cancer from a hospital-based cohort. Genet Med 2007 ; 9 : 173-179 (Pubitemid 46597714)
71. Brozek I, Ochman K, Debniak J, Morzuch L, Ratajska M, Stepnowska M, et al. High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland. Gynecol Oncol 2008 ; 108 : 433-437 (Pubitemid 351174286)
72. Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressacde-Paillerets B, Peyrat JP, et al. Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res 1998 ; 58 : 1588-1592 (Pubitemid 28215075)
73. Breast Cancer Linkage Consortium. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 1997 ; 349 : 1505-1510
74. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999 ; 91 : 943-949 (Pubitemid 29272520)
75. Antoniou A, Pharoah PP, Smith P, Easton DF. The BODICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 2004 ; 91 : 1580-1590 (Pubitemid 39486366)
76. Lahkani SR, van de Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2005 ; 20 : 2310-2318 (Pubitemid 34441658)
77. Litwiniuk MM, Roznowski K, Filas V, Godlewski DD, Stawicka M, Kaleta R, et al. Expression of estrogen receptor beta in breast carcinoma of BRCA1 mutation carriers. BMC Cancer 2008 ; 8 : 100. (Pubitemid 351727843)
78. Atchley DP, Albarracin CT, Lopez A, Valero V, Amos CI, Gonzalez-Angulo AM, et al. Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol 2008 ; 26 : 4282-4288
79. Jørgensen OD, Kronborg O, Fenger C. The Funen Adenoma Follow-Up Study. Characteristics of patients and initial adenomas in relation to severe dysplasia. Scand J Gastroenterol 1993 ; 28 : 239-243 (Pubitemid 23080682)
80. Neugut AI, Jacobson JS, Ahsan H, Santos J, Garbowski GC, Forde KA, et al. Incidence and recurrence rates of colorectal adenomas: a prospective study. Gastroenterology 1995 ; 108 : 402-408
81. Lieberman DA, Weiss DG, Bond JH, Ahnen DJ, Garewal H, Chejfec G. Use of colonoscopy to screen asymptomatic adults for colorectal cancer. Veterans Affairs Cooperative Study Group 380. N Engl J Med 2000 ; 343 : 162-168
82. Sampson JR, Jones S, Dolwani S, Cheadle JP. MutYH (MYH) and colorectal cancer. Biochem Soc Trans 2005 ; 33 : 679-683
83. 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 (Pubitemid 47014426)
84. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J, et al. Genome-wide association study provides evidence for a breast cancer locus at 6q22.33. Proc Natl Acad Sci USA 2008 ; 105 : 4340-4345 (Pubitemid 351754382)
85. Antoniou AC, Pharoah PDP, McMullan G, Day N, Stratton MS, Peto J, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002 ; 86 : 76-83. (Pubitemid 34146344)
86. Inserm-FNCLCC. Risques héréditaires de cancers du sein et de l'ovaire. Quelles prises en charge ? Paris : Inserm, 1998.
87. Pennec S. La place des familles à quatre générations en France. Population 1996 ; 1 : 31-60.
88. Bélot A, Grosclaude P, Bossard N, Jougla E, Benhamou E, Delafosse P, et al. Cancer incidence and mortality in France over the period 1980-2005. Rev Epidemiol Sante Publique 2008 ; 56 : 159-175
89. Bonaïti-Pellié C, Eisinger F, Feingold J, Frébourg, Grandjouan S, Lasset C, et al. Prédispositions héréditaires au cancer colorectal. Gastroenterol Clin Biol 2005; 29 : 701-710
90. Llor X, Pons E, Xicola RM, Castells A, Alenda C, Piñol V, et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res 2005 ; 11 : 7304-7310 (Pubitemid 41507688)
91. Salovaara R, Loukola A, Kristo P, Kääriäinen H, Ahtola H, Eskelinen M, et al. Population- based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000 ; 18 : 2193-2200 (Pubitemid 30350210)