Genetic counseling and testing for common hereditary breast cancer syndromes a Paper from the 2007 William Beaumont hospital symposium on molecular pathology

Journal of Molecular Diagnostics

Volumn 10, Issue 5, 2008, Pages 383-395

  Allain, Dawn C ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; PROTEIN P53; TAMOXIFEN;

BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME 17Q; CLINICAL FEATURE; COWDEN SYNDROME; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFORMED CONSENT; OVARY CANCER; PENETRANCE; REVIEW; RISK ASSESSMENT; RISK BENEFIT ANALYSIS; SOCIAL SUPPORT;

EID: 52249093054     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2008.070161     Document Type: Review

References (165)

1. Ries L, Harkins D, Krapcho M, Miller B, Feuer E, Clegg L, Horner M, Howlader N, Eisner M, Reichman M, Edwards BE: SEER Cancer Statistics Review, 1975-2004. Rockville, National Cancer Institute, 2006
2. Feuer EJ, Wun LM, Boring CC, Flanders WD, Timmel MJ, Tong T: The lifetime risk of developing breast cancer. J Natl Cancer Inst 1993, 85:892-897
3. Fearon ER, Vogelstein B: A genetic model for colorectal tumorigenesis. Cell 1990, 61:759-767
4. Frank TS: Hereditary risk of breast and ovarian carcinoma: the role of the oncologist. Oncologist 1998, 3:403-412
5. Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, Weber B, Strong LC, Rieger P, McClure M, Ward B, Shattuck-Eidens D, Oliphant A, Skolnick M, Thomas A: Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998, 16:2417-2425
6. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M, Consortium at BCL: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium Am J Hum Genet 1998, 62:676-689
7. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF: 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
8. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE: Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994, 343:692-695
9. King MC, Marks JH, Mandell JB: Breast and ovarian cancer risks due to inherited mutations In BRCA1 and BRCA2. Science 2003, 302:643-646
10. Chen S, Parmigiani G: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007, 25:1329-1333
11. McDonnell SK, Schaid DJ, Myers JL, Grant CS, Donohue JH, Woods JE, Frost MH, Johnson JL, Sitta DL, Slezak JM, Crotty TB, Jenkins RB, Sellers TA, Hartmann LC: Efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. J Clin Oncol 2001, 19:3938-3943
12. Verhoog LC, Brekelmans CT, Seynaeve C, Meijers-Heijboer EJ, Klijn JG: Contralateral breast cancer risk is influenced by the age at onset In BRCA1-associated breast cancer. Br J Cancer 2000, 83:384-386
13. Robson M, Svahn T, McCormick B, Borgen P, Hudis CA, Norton L, Offit K: Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2: a clinic-based series. Cancer 2005, 103:44-51
14. Metcalfe KA, Lynch HT, Ghadirian P, Tung N, Olivotto IA, Foulkes WD, Warner E, Olopade O, Eisen A, Weber B, McLennan J, Sun P, Narod SA: The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol 2005, 96:222-226
15. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL: Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002, 94:1365-1372
16. Thompson D, Easton D: Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001, 68:410-419
17. Liede A, Karlan BY, Narod SA: Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 2004, 22:735-742
18. Struewing JP, Coriaty ZM, Ron E, Livoff A, Konichezky M, Cohen P, Resnick MB, Lifzchiz-Mercerl B, Lew S, Iscovich J: Founder BRCA1/2 mutations among male patients with breast cancer in Israel. Am J Hum Genet 1999, 65:1800-1802
19. Ottini L, Masala G, D'Amico C, Mancini B, Saieva C, Aceto G, Gestri D, Vezzosi V, Falchetti M, De Marco M, Paglierani M, Cama A, Bianchi S, Mariani-Costantini R, Paili D: BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy. Cancer Res 2003, 63:342-347
20. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC: Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002, 20:1480-1490
21. Tai YC, Domchek S, Parmigiani G, Chen S: Breast cancer risk among male BRCA1 and BRCA2 mutation carriers J Natl Cancer Inst 2007, 99:1811-1814
22. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA: 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
23. Thompson D, Easton DF: Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002, 94:1358-1365
24. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HF, Ausems MG, Menko FH, Gomez Garcia EB, Klijn JG, Hogervorst FB, van Houwelingen JC, van't Veer LJ, Rookus MA, van Leeuwen FE: Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 2005, 42:711-719
25. Easton D, Thompson D, McGuffog L, Haites N, Schofield A, Scott RJ, King MC, Schubert E, Bignon Y, Stratton M, Ford D, Peto J, Eeles R, Ponder B, Gayther S, Chang-Claude J, Weber BHF, Hamann U, Osorio A, Eerola H, Nevanlinna H, Lynch HT, Narod S, Goldgar D, Lenoir G, Stoppa-Lyonnet D, Arason A, Barkardottir R, Egilsson V, Eyfjord J, Tulinius H, Bishop DT, Borg A, Loman N, Johannsson O, Olsson H, Tonin P, Foulkes W, Ghadirian P, Mes-Masson AM, Provencher D, Weber B, Devilee P, Vasen H, Cornelisse CJ, Meijers-Hejboer H, Klijn JGM, Brunet JS, Moslehi R, Neuhausen S, Cannon-Albright L: Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999, 91:1310-1316
26. Ozcelik H, Schmocker B, Di Nicola N, Shi XH, Langer B, Moore M, Taylor BR, Narod SA, Darlington G, Andrulis IL, Gallinger S, Redston M: Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet 1997, 16:17-18
27. Lakhani S, Van de Vijver MJ, Jacquemier J, Anderson T, Osin P, McGuffog L, Easton D: 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 2002, 20:2310-2318
28. Lakhani SR, Easton D, Stratton M: Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet 1997, 349:1505-1510
29. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, Bishop T, Benitez J, Rivas C, Bignon YJ, Chang-Claude J, Hamann U, Comelisse CJ, Devilee P, Beckmann MW, Nestle-Kramling C, Daly PA, Haites N, Varley J, Lalloo F, Evans G, Maugard C, Meijers-Heijboer H, Klijn JG, Olah E, Gusterson BA, Pilotti S, Radice P, Scherneck S, Sobol H, Jacquemier J, Wagner T, Peto J, Stratton MR, McGuffog L, Easton DF: Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res 2005, 11:5175-5180
30. Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, van de Vijver MJ, Farid LM, Venter D, Antoniou A, Storfer-lsser A, Smyth E, Steel CM, Haites N, Scott RJ, Goldgar D, Nehausen S, Daly PA, Ormiston W, McManus R, Scherneck S, Ponder BA, Ford D, Peto J, Stoppa-Lyonnet D, Bignon YJ, Struewing JP, Spurr NK, Bishop DT, Klijn JG, Devilee P, Comelisse CJ, Lasset C, Lenoir G, Barkardottir RB, Egilsson V, Hamann U, Chang-Claude J, Sobol H, Weber B, Stratton MR, Easton DF: Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations, J Natl Cancer Inst 1998, 90:1138-1145
31. Chappuis P, Nethercot V, Foulkes W: Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer. Semin Surg Oncol 2000, 18:287-295
32. Palacios J, Honrado E, Osorio A, Cazorla A, Sarrio D, Barroso A, Rodriguez S, Cigudosa JC, Diez O, Alonso C, Lerma E, Sanchez L, Rivas C, Benitez J: Immunohistochemical characteristics defined by tissue microarray of hereditary breast cancer not attributable to BRCA1 or BRCA2 mutations: differences from breast carcinomas arising in BRCA1 and BRCA2 mutation carriers. Clin Cancer Res 2003, 9:3606-3614
33. Werness BA, Ramus SJ, Whittemore AS, Garlinghouse-Jones K, Oakley-Girvan I, Dicioccio RA, Tsukada Y, Ponder BA, Piver MS: Histopathology of familial ovarian tumors in women from families with and without germline BRCA1 mutations. Hum Pathol 2000, 31:1420-1424
34. Shaw PA, McLaughlin JR, Zweemer RP, Narod SA, Risch H, Verheijen RH, Ryan A, Menko FH, Kenemans P, Jacobs IJ: Histopathologic features of genetically determined ovarian cancer. Int J Gynecol Pathol 2002, 21:407-411
35. Hogg R, Friedlander M: Biology of epithelial ovarian cancer: implications for screening women at high genetic risk. J Clin Oncol 2004, 22:1315-1327
36. Boyd J, Sonada Y, Federico M, Bogomolniy F, Rhei E, Maresco D, Saigo P, Almadrones L, Barakat RR, Brown C, Chi D, Curtin J, Poyner E, Hoskins W: Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 2000, 283:2260-2265
37. Lakhani SR, Manek S, Penault-Llorca F, Flanagan A, Arnout L, Merrett S, McGuffog L, Steele D, Devilee P, Klijn JG, Meijers-Heijboer H, Radice P, Pilotti S, Nevanlinna H, Butzow R, Sobol H, Jacquemier J, Lyonet DS, Neuhausen SL, Weber B, Wagner T, Winqvist R, Bignon YJ, Monti F, Schmitt F, Lenoir G, Seitz S, Hamman U, Pharoah P, Lane G, Ponder B, Bishop DT, Easton DF: Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004, 10:2473-2481
38. Gotlieb WH, Chetrit A, Menczer J, Hirsh-Yechezkel G, Lubin F, Friedman E, Modan B, Ben-Baruch G: Demographic and genetic characteristics of patients with borderline ovarian tumors as compared to early stage invasive ovarian cancer. Gynecol Oncol 2005, 97:780-783
39. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Goholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen SL, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266:66-71
40. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G: Identification of the breast cancer susceptibility gene BRCA2. Nature 1995, 378:789-792
41. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir G, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis CM, Cannon-Albright L, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Goldgar DE, Stratton M: Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994, 265:2088-2090
42. Narod SA, Foulkes WD: BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004, 4:665-676
43. Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, Ashley T, Livingston DM: Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 1997, 88:265-275
44. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997, 336:1401-1408
45. Gudmundsson J, Johannesdottir G, Arason A, Bergthorsson JT, Ingvarsson S, Egilsson V, Barkardottir RB: Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. Am J Hum Genet 1996, 58:749-756
46. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjord JE: A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996, 13:117-119
47. Tonin PN, Mes-Masson AM, Futreal PA, Morgan K, Mahon M, Foulkes WD, Cole DE, Provencher D, Ghadirian P, Narod SA: Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 1998, 63:1341-1351
48. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc JF, Belanger C, Dion F, Liu Q, Skolnick M, Goldgar D, Shattuck-Eidens D, Labrie F, Narod SA: Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 1994, 8:392-398
49. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van't Veer LJ, Bakker E, van Ommen GJ, Devilee P: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997, 17:341-345
50. Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland AM, Hogervorst F, Brohet R, Ligtenberg MJ, Teugels E, van der Luijt R, van der Hout AH, Gille JJ, Pals G, Jedema I, Olmer R, van Leeuwen I, Newman B, Plandsoen M, van der Est M, Brink G, Hageman S, Arts PJ, Bakker MM, Willems HW, van der Looij E, Neyns B, Bonduelle M, Jansen R, Oosterwijk JC, Sijmons RH, Smeets HJM, Van Asperen CJ, Meijers-Heijboer H, Klijn M, de Greve J, King MC, Menko FH, Brunner HG, Halley D, van Ommen GJB, Vasen HFA, Cornelisse CJ, van't Veer LJ, de Knijff P, Bakker E, Devilee P: A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 1997, 60:1041-1049
51. Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F: Evidence for a BRCA1 founder mutation in families of West African ancestry. Am J Hum Genet 1999, 65:575-578
52. Gao Q, Tomlinson G, Das S, Cummings S, Sveen L, Fackenthal J, Schumm P, Olopade Ol: Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer. Hum Genet 2000, 107:186-191
53. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC: Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006, 295:1379-1388
54. Nagy R, Sweet K, Eng C: Highly penetrant hereditary cancer syndromes. Oncogene 2004, 23:6445-6470
55. Burke W, Daly M, Garber J, Botkin J, Kahn MJ, Lynch P, McTiernan A, Offit K, Perlman J, Petersen G, Thomson E, Varricchio C: Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2 Cancer Genetics Studies Consortium. JAMA 1997, 277:997-1003
56. Daly MB, Axilbund JE, Bryant E, Buys S, Eng C, Friedman S, Esserman LJ, Farrell CD, Ford JM, Graber JE, Jeter JM, Kohlmann W, Lynch PM, Marcom PK, Nabell LM, Offit K, Osarogiagbon RU, Pasche B. Reiser G, Sutphen R, Weitzel JN: National Comprehensive Cancer Network: Genetic/Familial High-Risk Assessment: Breast and Ovarian Clinical Practice Guidelines. J Natl Compr Cane Netw 2006, 4:156-76
57. Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, Morris E, Pisano E, Schnall M, Sener S, Smith RA, Warner E, Yaffe M, Andrews KS, Russell CA: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 2007, 57:75-89
58. Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, Stoppa-Lyonnet D, Lerman C, Pasini B, de los Rios P, Weber B, Lynch H: Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 2000, 356:1876-1881
59. Gronwald J, Tung N, Foulkes W, Offict K, Gershoni R, Daly M, Kim-Sing C, Olsson H, Ainsworth P, Eisen A, Saal H, Friedman E, Olopade O, Osborne M, Weitzel J, Lynch H, Ghadirian P, Lubinski J, Sun P, Narod S, Group THBCCS: Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 2005, 118:2281-2284
60. Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL, Frost MH, Grant CS, Donohue JH, Woods JE, McDonnell SK, Vockley CW, Deffenbaugh A, Couch FJ, Jenkins RB: Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 2001, 93:1633-1637
61. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van't Veer L, Garber JE, Evans GR, Narod SA, Isaacs C. Matloff E, Daly MB, Olopade Ol, Weber BL: Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004, 22:1055-1062
62. Meijers-Heijboer H, van Geel B, van Putten WL, Henzen-Logmans SC, Seynaeve C, Menke-Pluymers MB, Bartels CC, Verhoog LC, van den Ouweland AM, Niermeijer MF, Brekelmans CT, Klijn JG: Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001, 345:159-164
63. Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Castiel M, Nafa K, Offit K: Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002, 346:1609-1615
64. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE, Evans G, Isaacs C, Daly MB, Matloff E, Olopade Ol, Weber BL: Prophylactic oophorectomy In carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002, 346:1616-1622
65. Rutter JL, Wacholder S, Chetrit A, Lubin F, Menczer J, Ebbers S, Tucker MA, Struewing JP, Hartge P: Gynecologic surgeries and risk of ovarian cancer In women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study. J Natl Cancer Inst 2003, 95:1072-1078
66. Domchek SM, Friebel TM, Neuhausen SL, Wagner T, Evans G, Isaacs C, Garber JE, Daly MB, Eeles R, Matloff E, Tomlinson GE, Van't Veer L, Lynch HT, Olopade Ol, Weber BL, Rebbeck TR: Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 2006, 7:223-229
67. Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA: Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005, 23:7491-7496
68. McGuire V, Felberg A, Mills M, Ostrow KL, DiCioccio R, John EM, West DW, Whittemore AS: Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations. Am J Epidemiol 2004, 160:613-618
69. Bosetti C, Negri E, Trichopoulos D, Franceschi S, Beral V, Tzonou A, Parazzini F, Greggi S, La Vecchia C: Long-term effects of oral contraceptives on ovarian cancer risk. Int J Cancer 2002, 102:262-265
70. Narod SA, Risch H, Moslehi R, Dorum A, Neuhausen S, Olsson H, Provencher D, Radice P, Evans G, Bishop S, Brunet JS, Ponder BA: Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 1998, 339:424-428
71. McLaughlin JR, Risch HA, Lubinski J, Moller P, Ghadinan P, Lynch H, Karlan B, Fishman D, Rosen B, Neuhausen SL, Offit K, Kauff N, Domchek S, Tung N, Friedman E, Foulkes W, Sun P, Narod SA: Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol 2007, 8:26-34
72. Eng C: Cowden syndrome. J Genet Couns 1997, 6:181-192
73. Eng C: Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000, 37:828-830
74. Hanssen AM, Fryns JP: Cowden syndrome. J Med Genet 1995, 32:117-119
75. Pilarski R, Eng C: Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumor syndrome. J Med Genet 2007, 2004:323-326
76. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW: The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986, 29:222-233
77. Brownstein MH, Wolf M, Bikowski JB: Cowden's disease: a cutaneous marker of breast cancer. Cancer 1978, 41:2393-2398
78. Eng C: PTEN: one gene, many syndromes. Hum Mutat 2003, 22:183-198
79. Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, Olopade Ol: Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001, 38:159-164
80. Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC: Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neural 1991, 29:517-523
81. Eng C, Murday V, Seal S, Mohammed S, Hodgson SV, Chaudary MA, Fentiman IS, Ponder BA, Eeles RA: Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? J Med Genet 1994, 31:458-461
82. Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M: Clinical and pathological features of breast disease In Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 1998, 29:47-53
83. Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M: Similarities of cutaneous and breast pathology in Cowden's syndrome. Exp Dermatol 1998, 7:380-390
84. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R: Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997, 16:64-67
85. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulous C, Olopade Ol, Sobol H, Tishler S, Woods CG, Robinson BG, Weber C, Parsons R, Peacocke M, Longy M, Eng C: 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
86. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV: Identification of a candidate tumour suppressor gene. MMAC1, at chromosome 10q233 that is mutated in multiple advanced cancers. Nat Genet 1997, 15:356-362
87. Eng C: Genetics of Cowden syndrome: through the looking glass of oncology. Int J Oncol 1998, 12:701-710
88. Li DM, Sun H: TEP1, encoded by a candidate tumor suppressor locus, Is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res 1997, 57:2124-2129
89. Waite KA, Eng C: Protean PTEN: form and function. Am J Hum Genet 2002, 70:829-844
90. Sansal I, Sellers WR: The biology and clinical relevance of the PTEN tumor suppressor pathway. J Clin Oncol 2004, 22:2954-2963
91. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Ger-aghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Tolmie JL, Trembath R, Winter RM, Zackai EH, Zori RT, Weng LP, Dahia PL, Eng C: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome Hum Mol Genet 1999, 8:1461-1472
92. Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C: Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 2001, 358:210-211
93. Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, Shelton B, Prestigiacomo L, Vogelstein B, Davidson N: Inherited p53 gene mutations in breast cancer. Cancer Res 1992. 52:2984-2986
94. Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW: A cancer family syndrome in twenty-four kindreds. Cancer Res 1988, 48:5358-5362
95. LI FP, Fraumeni JF Jr: Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann intern Med 1969, 71:747-752
96. Lynch HT, Mulcahy GM, Hams RE, Guirgis HA, Lynch JF: Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, iung, laryngeal, and adrenal cortical carcinoma. Cancer 1978, 41:2055-2064
97. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, Friend SH: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990, 250:1233-1238
98. Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP: Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 2001, 10:83-87
99. Hartley AL, Birch JM, Marsden HB, Harris M: Malignant melanoma In families of children with osteosarcoma, chondrosarcoma, and adrenal cortical carcinoma. J Med Genet 1987, 24:664-668
100. Jay M, McCartney AC: Familial malignant melanoma of the uvea and p53: a Victorian detective story. Surv Ophthalmol 1993, 37:457-462
101. Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, Eden OB, Varley JM: Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001, 20:4621-4628
102. Hwang SJ, Lozano G, Amos Cl, Strong LC: Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet 2003, 72:975-983
103. Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC: Segregation analysis of cancer In families of childhood soft-tissue-sarcoma patients. Am J Hum Genet 1992, 51:344-356
104. Hisada M, Garber JE, Fung CY, Fraumeni JF Jr, Li FP: Multiple primary cancers In families with Li-Fraumeni syndrome. J Natl Cancer Inst 1998, 90:606-611
105. Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frebourg T, Lemerle J, Bonaiti-Pellie C, Feunteun J: P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000, 82:1932-1937
106. Le Bihan C, Bonaiti-Pellie C: A method for estimating cancer risk in p53 mutation carriers. Cancer Detect Prev 1994, 18:171-178
107. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A, Crowther D, Craft AW, Eden OB, Evans GR, Thompson E, Mann JR, Martin J, Mitchell ELD, Santibanez-Koref MF: Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994, 54:1298-1304
108. Eeles RA: Germline mutations in the TP53 gene. Cancer Surv 1995, 25:101-124
109. Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001, 38:43-47
110. Srivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH: Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 1990, 348:747-749
111. Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ, Evans DG, Birch JM: Germ-line mutations of TP53 In Li-Fraumeni families: an extended study of 39 families. Cancer Res 1997, 57:3245-3252
112. Levine AJ: p53, the cellular gatekeeper for growth and division. Cell 1997, 88:323-331
113. Lane DP: Cancer. p53, guardian of the genome. Nature 1992, 358:15-16
114. Soussi T, Caron de Fromentel C, May P: Structural aspects of the p53 protein In relation to gene evolution. Oncogene 1990, 5:945-952
115. Varley JM, Evans DG, Birch JM: Li-Fraumeni syndrome - a molecular and clinical review. Br J Cancer 1997, 76:1-14
116. Frebourg T, Barbier N, Yan YX, Garber JE, Dreyfus M, Fraumeni J Jr, Li FP, Friend SH: Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 1995, 56:608-615
117. Greenblatt MS, Bennett WP, Hollstein M, Harris CC: Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res 1994, 54:4855-4878
118. Brugiéres L, Gardes M, Moutou C, Chompret A, Meresse V, Martin A, Poisson N, Flamant F, Bonaiti-Pellie C, Lemerle J, Feunteun J: Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer. Cancer Res 1993, 53:452-455
119. Bougeard G, Limacher JM, Martin C, Charbonnier F, Killian A, Delattre O, Longy M, Jonveaux P, Fricker JP, Stoppa-Lyonnet D, Flaman JM, Frebourg T: Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. J Med Genet 2001, 38:253-257
120. Varley J, Evans DG, Birch JM: Li-Fraumeni syndrome-a molecular and clinical review. Br J Cancer, 1997, 76:1-14
121. Vahteristo P, Bartkova J, Eerola H, Syrjakoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomaki K, Heikkila P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H: A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002, 71:432-438
122. Lee SB, Kim SH, Bell DW, Wahrer DC, Schiripo TA, Jorczak MM, Sgroi DC, Garber JE, LI FP, Nichols KE, Varley JM, Godwin AK, Shannon KM, Harlow E, Haber DA: Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni syndrome. Cancer Res 2001, 61:8062-8067
123. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999, 286:2528-2531
124. Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aattonen LA, Blomqvist C, Aittomaki K, Nevanlinna H: p53, CHK2, and CHK1 genes In Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res 2001, 61:5718-5722
125. Royds JA, Lacopetta B: p53 and disease: when the guardian angel falls. Cell Death Differ 2006, 13:1017-1026
126. Allinen M, Huusko P, Mantyniemi S, Launonen V, Winqvist R: Mutation analysis of the CHK2 gene in families with hereditary breast cancer. Br J Cancer 2001, 85:209-212
127. Siddiqui R, Onel K, Facio F, Nafa K, Diaz LR, Kauff N, Huang H, Robson M, Ellis N, Offit K: The TP53 mutational spectrum and frequency of CHEK2*1100delC In Li-Fraumeni-like kindreds. Fam Cancer 2005, 4:177-181
128. Limacher JM, Frebourg T, Natarajan-Ame S, Bergerat JP: Two meta-chronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. Int J Cancer 2001, 96:238-242
129. Nutting C, Camplejohn RS, Gilchrist R, Tait D, Blake P, Knee G, Yao WQ, Ross G, Fisher C, Eeles R: A patient with 17 primary tumours and a germ line mutation in TP53: tumour induction by adjuvant therapy? Clin Oncol (R Coll Radiol) 2000, 12:300-304
130. Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW: Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors. J Genet Couns 2004, 13:83-114
131. Allain D: Genetic counseling and testing for hereditary breast and colorectal cancer syndromes: an overview. Contemp Oncol 2005, 1:1-10
132. Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan CK, Resta RG, Lochner-Doyle D, Markel DS, Vincent V, Hamanishi J: Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 1995, 56:745-752
133. Love RR, Evans AM, Josten DM: The accuracy of patient reports of a family history of cancer. J Chronic Dis 1985, 38:289-293
134. Theis B, Boyd N, Lockwood G, Tritchler D: Accuracy of family cancer history in breast cancer patients. Eur J Cancer Prev 1994, 3:321-327
135. Douglas FS, O'Dair LC, Robinson M, Evans DG, Lynch SA: The accuracy of diagnoses as reported in families with cancer: a retrospective study. J Med Genet 1999, 36:309-312
136. Bennett RL, Hampel HL, Mandell JB, Marks JH: Genetic counselors: translating genomic science Into clinical practice. J Clin Invest 2003, 112:1274-1279
137. Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ: Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989, 81:1879-1886
138. Claus EB, Risch N, Thompson WD: Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994, 73:643-651
139. Parmigiani G, Berry D, Aguilar O: Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998, 62:145-158
140. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, Ganguly A, Rebbeck T, Weber BL: BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer, N Engl J Med 1997, 336:1409-1415
141. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujimura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Gilewski T, Norton L, Brown K, Schulz C, Hampel H, Schluger A, Giulotto E, Zoli W, Ravaioli A, Nevanlinna H, Pyrhonen S, Rowley PT, Loader S, Osborne MP, Daly M, Tepler I, Weinstein PL, Scalia JL, Michaelson R, Scott RJ, Radice P, Pierotti MA, Garber JE, Isaacs C, Peshkin B, Lippman ME, Dosik MH, Caligo MA, Greenstein RM, Pilarski R, Weber B, Burgemeister R, Frank TS, Skolnick MH, Thomas A: BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 1997, 278:1242-1250
142. Tyrer J, Duffy SW, Cuzick J: A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004, 23:1111-1130
143. Kang HH, Williams R, Leary J, Ringland C, Kirk J, Ward R: Evaluation of models to predict BRCA germline mutations. Br J Cancer 2006, 95:914-920
144. Barcenas CH, Hosain GM, Arun B, Zong J, Zhou X, Chen J, Cortada JM, Mills GB, Tomlinson GE, Miller AR, Strong LC, Amos Cl: Assessing BRCA carrier probabilities in extended families. J Clin Oncol 2006, 24:354-360
145. James PA, Doherty R, Harris M, Mukesh BN, Milner A, Young MA, Scott C: Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. J Clin Oncol 2006, 24:707-715
146. Hopwood P: Psychological issues in cancer genetics: current research and future priorities. Patient Educ Couns 1997, 32:19-31
147. Biesecker BB: Psychological Issues in cancer genetics. Semin Oncol Nurs 1997, 13:129-134
148. Biesecker BB, Ishibe N, Hadley DW, Giambarresi TR, Kase RG, Lerman C, Struewing JP: Psychosocial factors predicting BRCA1/ BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. Am J Med Genet 2000, 93:257-263
149. Lerman C, Croyle RT: Emotional and behavioral responses to genetic testing for susceptibility to cancer. Oncology (Williston Park) 1996, 10:191-200
150. Offit K, Bertagnolli MM, Bombard AT, Come S, Eng C, Garber JE, Joffe S, Greene MH, Tucker MA, Gruber SB, Guillem JG, Robson M, Halberg FE, Hampel H, Olopade Ol, Rieger PT, Rodriquez-Bigas MG, Tomlinson G, Watson MS, Weber BL, Weitzel J, Wiesner GL: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 2003, 21:2397-2406
151. Foundation ACoMG: Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines. New York, American College of Medical Genetics Foundation, 1999
152. Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, Iddenden R, Woodward ER, Lalloo F, Maher ER, Evans DG: Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet 2007, 44:10-15
153. Rowan E, Poll A, Narod SA: A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriers. J Med Genet 2007, 44:e89; author reply e88
154. Gronwald J, Cybulski C, Lubinski J, Narod SA: Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling. J Med Genet 2007, 44:e76
155. van Dijk S, van Asperen CJ, Jacobi CE, Vink GR, Tibben A, Breuning MH, Often W: Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk message. Genet Test 2004, 8:235-239
156. Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C: Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol 2002, 20:514-520
157. Croyle RT, Smith KR, Botkin JR, Baty B, Nash J: Psychological responses to BRCA1 mutation testing: preliminary findings. Health Psychol 1997, 16:63-72
158. Bredart A, Autier P, Audisio RA, Geragthy J: Psycho-social aspects of breast cancer susceptibility testing: a literature review. Eur J Cancer Care (Engl) 1998, 7:174-180
159. Lerman C, Hughes C, Lemon SJ, Main D, Snyder C, Durham C, Narod S, Lynch HT: What you don't know can hurt you: adverse psychologic effects in members of BRCA1 -linked and BRCA2-linked families who decline genetic testing. J Clin Oncol 1998, 16:1650-1654
160. Lerman C, Croyle R: Psychological issues in genetic testing for breast cancer susceptibility. Arch Intern Med 1994. 154:609-616
161. Biesecker BB, Boehnke M, Calzone K, Markel DS, Garber JE, Collins FS, Weber BL: Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA 1993, 269:1970-1974
162. Smith KR, West JA, Croyle RT, Botkin JR: Familial context of genetic testing for cancer susceptibility: moderating effect of siblings' test results on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomarkers Prev 1999, 8:385-392
163. Hall MA, Rich SS: Laws restricting health insurers' use of genetic information: impact on genetic discrimination. Am J Hum Genet 2000, 66:293-307
164. Lapham EV, Kozma C, Weiss JO: Genetic discrimination: perspectives of consumers. Science 1996, 274:621-624
165. Health Insurance Portability and Accountability Act. Pub L 1996, 110:104-191