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. 2002 Dec;39(12):865–871. doi: 10.1136/jmg.39.12.865

Risk assessment and management of high risk familial breast cancer

D Evans 1, F Lalloo 1
PMCID: PMC1757211  PMID: 12471197

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Selected References

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  1. Antoniou A. C., Pharoah P. D. P., McMullan G., Day N. E., Stratton M. R., Peto J., Ponder B. J., Easton D. F. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002 Jan 7;86(1):76–83. doi: 10.1038/sj.bjc.6600008. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Baxter N., Canadian Task Force on Preventive Health Care Preventive health care, 2001 update: should women be routinely taught breast self-examination to screen for breast cancer? CMAJ. 2001 Jun 26;164(13):1837–1846. [PMC free article] [PubMed] [Google Scholar]
  3. Benichou J., Gail M. H., Mulvihill J. J. Graphs to estimate an individualized risk of breast cancer. J Clin Oncol. 1996 Jan;14(1):103–110. doi: 10.1200/JCO.1996.14.1.103. [DOI] [PubMed] [Google Scholar]
  4. Brekelmans C. T., Seynaeve C., Bartels C. C., Tilanus-Linthorst M. M., Meijers-Heijboer E. J., Crepin C. M., van Geel A. A., Menke M., Verhoog L. C., van den Ouweland A. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol. 2001 Feb 15;19(4):924–930. doi: 10.1200/JCO.2001.19.4.924. [DOI] [PubMed] [Google Scholar]
  5. Brown J., Buckley D., Coulthard A., Dixon A. K., Dixon J. M., Easton D. F., Eeles R. A., Evans D. G., Gilbert F. G., Graves M. Magnetic resonance imaging screening in women at genetic risk of breast cancer: imaging and analysis protocol for the UK multicentre study. UK MRI Breast Screening Study Advisory Group. Magn Reson Imaging. 2000 Sep;18(7):765–776. doi: 10.1016/s0730-725x(00)00167-3. [DOI] [PubMed] [Google Scholar]
  6. Chaliki H., Loader S., Levenkron J. C., Logan-Young W., Hall W. J., Rowley P. T. Women's receptivity to testing for a genetic susceptibility to breast cancer. Am J Public Health. 1995 Aug;85(8 Pt 1):1133–1135. doi: 10.2105/ajph.85.8_pt_1.1133. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Chaudary M. A., Millis R. R., Bulbrook R. D., Hayward J. L. Family history and bilateral primary breast cancer. Breast Cancer Res Treat. 1985;5(2):201–205. doi: 10.1007/BF01805995. [DOI] [PubMed] [Google Scholar]
  8. Chenevix-Trench Georgia, Spurdle Amanda B., Gatei Magtouf, Kelly Helena, Marsh Anna, Chen Xiaoqing, Donn Karen, Cummings Margaret, Nyholt Dale, Jenkins Mark A. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst. 2002 Feb 6;94(3):205–215. doi: 10.1093/jnci/94.3.205. [DOI] [PubMed] [Google Scholar]
  9. Claus E. B., Risch N., Thompson W. D. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994 Feb 1;73(3):643–651. doi: 10.1002/1097-0142(19940201)73:3<643::aid-cncr2820730323>3.0.co;2-5. [DOI] [PubMed] [Google Scholar]
  10. Colditz G. A. Relationship between estrogen levels, use of hormone replacement therapy, and breast cancer. J Natl Cancer Inst. 1998 Jun 3;90(11):814–823. doi: 10.1093/jnci/90.11.814. [DOI] [PubMed] [Google Scholar]
  11. Drew P. J., Monson J. R. Magnetic resonance mammography. Br J Surg. 1996 Oct;83(10):1316–1318. doi: 10.1002/bjs.1800831003. [DOI] [PubMed] [Google Scholar]
  12. Dupont W. D., Page D. L. Relative risk of breast cancer varies with time since diagnosis of atypical hyperplasia. Hum Pathol. 1989 Aug;20(8):723–725. doi: 10.1016/0046-8177(89)90063-4. [DOI] [PubMed] [Google Scholar]
  13. Dupont W. D., Page D. L. Risk factors for breast cancer in women with proliferative breast disease. N Engl J Med. 1985 Jan 17;312(3):146–151. doi: 10.1056/NEJM198501173120303. [DOI] [PubMed] [Google Scholar]
  14. Easton D. F., Ford D., Bishop D. T. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995 Jan;56(1):265–271. [PMC free article] [PubMed] [Google Scholar]
  15. Eccles D. M., Evans D. G., Mackay J. Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. UK Cancer Family Study Group (UKCFSG). J Med Genet. 2000 Mar;37(3):203–209. doi: 10.1136/jmg.37.3.203. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Eisinger F., Alby N., Bremond A., Dauplat J., Espié M., Janiaud P., Kuttenn F., Lebrun J. P., Lefranc J. P., Pierret J. Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee. Ann Oncol. 1998 Sep;9(9):939–950. doi: 10.1023/A:1008389021382. [DOI] [PubMed] [Google Scholar]
  17. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000 Nov;37(11):828–830. doi: 10.1136/jmg.37.11.828. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Evans D. G., Anderson E., Lalloo F., Vasen H., Beckmann M., Eccles D., Hodgson S., Møller P., Chang-Claude J., Morrison P. Utilisation of prophylactic mastectomy in 10 European centres. Dis Markers. 1999 Oct;15(1-3):148–151. doi: 10.1155/1999/605917. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Evans D. G., Blair V., Greenhalgh R., Hopwood P., Howell A. The impact of genetic counselling on risk perception in women with a family history of breast cancer. Br J Cancer. 1994 Nov;70(5):934–938. doi: 10.1038/bjc.1994.423. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Evans D. G., Fentiman I. S., McPherson K., Asbury D., Ponder B. A., Howell A. Familial breast cancer. BMJ. 1994 Jan 15;308(6922):183–187. doi: 10.1136/bmj.308.6922.183. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Evans D., Lalloo F., Shenton A., Boggis C., Howell A. Uptake of screening and prevention in women at very high risk of breast cancer. Lancet. 2001 Sep 15;358(9285):889–890. doi: 10.1016/S0140-6736(01)06039-1. [DOI] [PubMed] [Google Scholar]
  22. Fackenthal J. D., Marsh D. J., Richardson A. L., Cummings S. A., Eng C., Robinson B. G., Olopade O. I. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet. 2001 Mar;38(3):159–164. doi: 10.1136/jmg.38.3.159. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Feldman J. G., Carter A. C., Nicastri A. D., Hosat S. T. Breast self-examination, relationship to stage of breast cancer at diagnosis. Cancer. 1981 Jun 1;47(11):2740–2745. doi: 10.1002/1097-0142(19810601)47:11<2740::aid-cncr2820471133>3.0.co;2-4. [DOI] [PubMed] [Google Scholar]
  24. Fisher B., Costantino J. P., Wickerham D. L., Redmond C. K., Kavanah M., Cronin W. M., Vogel V., Robidoux A., Dimitrov N., Atkins J. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst. 1998 Sep 16;90(18):1371–1388. doi: 10.1093/jnci/90.18.1371. [DOI] [PubMed] [Google Scholar]
  25. Ford D., Easton D. F., Bishop D. T., Narod S. A., Goldgar D. E. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 Mar 19;343(8899):692–695. doi: 10.1016/s0140-6736(94)91578-4. [DOI] [PubMed] [Google Scholar]
  26. Ford D., Easton D. F., Stratton M., Narod S., Goldgar D., Devilee P., Bishop D. T., Weber B., Lenoir G., Chang-Claude J. 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 Mar;62(3):676–689. doi: 10.1086/301749. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Foster R. S., Jr, Costanza M. C. Breast self-examination practices and breast cancer survival. Cancer. 1984 Feb 15;53(4):999–1005. doi: 10.1002/1097-0142(19840215)53:4<999::aid-cncr2820530429>3.0.co;2-n. [DOI] [PubMed] [Google Scholar]
  28. Foulkes W. D., Wong N., Brunet J. S., Bégin L. R., Zhang J. C., Martinez J. J., Rozen F., Tonin P. N., Narod S. A., Karp S. E. Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer. Clin Cancer Res. 1997 Dec;3(12 Pt 1):2465–2469. [PubMed] [Google Scholar]
  29. Gail M. H., Brinton L. A., Byar D. P., Corle D. K., Green S. B., Schairer C., Mulvihill J. J. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989 Dec 20;81(24):1879–1886. doi: 10.1093/jnci/81.24.1879. [DOI] [PubMed] [Google Scholar]
  30. Gayther S. A., Mangion J., Russell P., Seal S., Barfoot R., Ponder B. A., Stratton M. R., Easton D. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet. 1997 Jan;15(1):103–105. doi: 10.1038/ng0197-103. [DOI] [PubMed] [Google Scholar]
  31. Goodnight J. E., Jr, Quagliana J. M., Morton D. L. Failure of subcutaneous mastectomy to prevent the development of breast cancer. J Surg Oncol. 1984 Jul;26(3):198–201. doi: 10.1002/jso.2930260313. [DOI] [PubMed] [Google Scholar]
  32. Hartmann L. C., Schaid D. J., Woods J. E., Crotty T. P., Myers J. L., Arnold P. G., Petty P. M., Sellers T. A., Johnson J. L., McDonnell S. K. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999 Jan 14;340(2):77–84. doi: 10.1056/NEJM199901143400201. [DOI] [PubMed] [Google Scholar]
  33. Hopper J. L., Southey M. C., Dite G. S., Jolley D. J., Giles G. G., McCredie M. R., Easton D. F., Venter D. J. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev. 1999 Sep;8(9):741–747. [PubMed] [Google Scholar]
  34. Hopwood P., Lee A., Shenton A., Baildam A., Brain A., Lalloo F., Evans G., Howell A. Clinical follow-up after bilateral risk reducing ('prophylactic') mastectomy: mental health and body image outcomes. Psychooncology. 2000 Nov-Dec;9(6):462–472. doi: 10.1002/1099-1611(200011/12)9:6<462::aid-pon485>3.0.co;2-j. [DOI] [PubMed] [Google Scholar]
  35. Jernström H., Lerman C., Ghadirian P., Lynch H. T., Weber B., Garber J., Daly M., Olopade O. I., Foulkes W. D., Warner E. Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2. Lancet. 1999 Nov 27;354(9193):1846–1850. doi: 10.1016/s0140-6736(99)04336-6. [DOI] [PubMed] [Google Scholar]
  36. Kampert J. B., Whittemore A. S., Paffenbarger R. S., Jr Combined effect of childbearing, menstrual events, and body size on age-specific breast cancer risk. Am J Epidemiol. 1988 Nov;128(5):962–979. doi: 10.1093/oxfordjournals.aje.a115070. [DOI] [PubMed] [Google Scholar]
  37. Lalloo F., Baildam A., Brain A., Hopwood P., Evans D. G., Howell A. A protocol for preventative mastectomy in women with an increased lifetime risk of breast cancer. Eur J Surg Oncol. 2000 Nov;26(7):711–713. doi: 10.1053/ejso.2000.0986. [DOI] [PubMed] [Google Scholar]
  38. Lalloo F., Boggis C. R., Evans D. G., Shenton A., Threlfall A. G., Howell A. Screening by mammography, women with a family history of breast cancer. Eur J Cancer. 1998 May;34(6):937–940. doi: 10.1016/s0959-8049(98)00005-7. [DOI] [PubMed] [Google Scholar]
  39. Lalloo F., Cochrane S., Bulman B., Varley J., Elles R., Howell A., Evans D. G. An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews. J Med Genet. 1998 Jan;35(1):10–12. doi: 10.1136/jmg.35.1.10. [DOI] [PMC free article] [PubMed] [Google Scholar]
  40. Law J. Cancers detected and induced in mammographic screening: new screening schedules and younger women with family history. Br J Radiol. 1997 Jan;70:62–69. doi: 10.1259/bjr.70.829.9059297. [DOI] [PubMed] [Google Scholar]
  41. Lerman C., Daly M., Masny A., Balshem A. Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol. 1994 Apr;12(4):843–850. doi: 10.1200/JCO.1994.12.4.843. [DOI] [PubMed] [Google Scholar]
  42. Lerman C., Narod S., Schulman K., Hughes C., Gomez-Caminero A., Bonney G., Gold K., Trock B., Main D., Lynch J. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA. 1996 Jun 26;275(24):1885–1892. [PubMed] [Google Scholar]
  43. Liaw D., Marsh D. J., Li J., Dahia P. L., Wang S. I., Zheng Z., Bose S., Call K. M., Tsou H. C., Peacocke M. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997 May;16(1):64–67. doi: 10.1038/ng0597-64. [DOI] [PubMed] [Google Scholar]
  44. MacMahon B., Cole P., Brown J. Etiology of human breast cancer: a review. J Natl Cancer Inst. 1973 Jan;50(1):21–42. doi: 10.1093/jnci/50.1.21. [DOI] [PubMed] [Google Scholar]
  45. Malkin D., Li F. P., Strong L. C., Fraumeni J. F., Jr, Nelson C. E., Kim D. H., Kassel J., Gryka M. A., Bischoff F. Z., Tainsky M. A. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990 Nov 30;250(4985):1233–1238. doi: 10.1126/science.1978757. [DOI] [PubMed] [Google Scholar]
  46. Meijers-Heijboer E. J., Verhoog L. C., Brekelmans C. T., Seynaeve C., Tilanus-Linthorst M. M., Wagner A., Dukel L., Devilee P., van den Ouweland A. M., van Geel A. N. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet. 2000 Jun 10;355(9220):2015–2020. doi: 10.1016/s0140-6736(00)02347-3. [DOI] [PubMed] [Google Scholar]
  47. Meijers-Heijboer H., van Geel B., van Putten W. L., Henzen-Logmans S. C., Seynaeve C., Menke-Pluymers M. B., Bartels C. C., Verhoog L. C., van den Ouweland A. M., Niermeijer M. F. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2001 Jul 19;345(3):159–164. doi: 10.1056/NEJM200107193450301. [DOI] [PubMed] [Google Scholar]
  48. Miki Y., Swensen J., Shattuck-Eidens D., Futreal P. A., Harshman K., Tavtigian S., Liu Q., Cochran C., Bennett L. M., Ding W. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994 Oct 7;266(5182):66–71. doi: 10.1126/science.7545954. [DOI] [PubMed] [Google Scholar]
  49. Miller A. B., To T., Baines C. J., Wall C. Canadian National Breast Screening Study-2: 13-year results of a randomized trial in women aged 50-59 years. J Natl Cancer Inst. 2000 Sep 20;92(18):1490–1499. doi: 10.1093/jnci/92.18.1490. [DOI] [PubMed] [Google Scholar]
  50. Møller P., Evans G., Haites N., Vasen H., Reis M. M., Anderson E., Apold J., Hodgson S., Eccles D., Olsson H. Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer. Dis Markers. 1999 Oct;15(1-3):207–211. doi: 10.1155/1999/920109. [DOI] [PMC free article] [PubMed] [Google Scholar]
  51. Narod S. A., Risch H., Moslehi R., Dørum A., Neuhausen S., Olsson H., Provencher D., Radice P., Evans G., Bishop S. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med. 1998 Aug 13;339(7):424–428. doi: 10.1056/NEJM199808133390702. [DOI] [PubMed] [Google Scholar]
  52. Nelen M. R., Padberg G. W., Peeters E. A., Lin A. Y., van den Helm B., Frants R. R., Coulon V., Goldstein A. M., van Reen M. M., Easton D. F. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996 May;13(1):114–116. doi: 10.1038/ng0596-114. [DOI] [PubMed] [Google Scholar]
  53. Newman B., Austin M. A., Lee M., King M. C. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci U S A. 1988 May;85(9):3044–3048. doi: 10.1073/pnas.85.9.3044. [DOI] [PMC free article] [PubMed] [Google Scholar]
  54. O'Driscoll D., Warren R., MacKay J., Britton P., Day N. E. Screening with breast ultrasound in a population at moderate risk due to family history. J Med Screen. 2001;8(2):106–109. doi: 10.1136/jms.8.2.106. [DOI] [PubMed] [Google Scholar]
  55. Oddoux C., Struewing J. P., Clayton C. M., Neuhausen S., Brody L. C., Kaback M., Haas B., Norton L., Borgen P., Jhanwar S. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet. 1996 Oct;14(2):188–190. doi: 10.1038/ng1096-188. [DOI] [PubMed] [Google Scholar]
  56. Powles T. J., Tillyer C. R., Jones A. L., Ashley S. E., Treleaven J., Davey J. B., McKinna J. A. Prevention of breast cancer with tamoxifen--an update on the Royal Marsden Hospital pilot programme. Eur J Cancer. 1990;26(6):680–684. doi: 10.1016/0277-5379(90)90116-b. [DOI] [PubMed] [Google Scholar]
  57. Powles T., Eeles R., Ashley S., Easton D., Chang J., Dowsett M., Tidy A., Viggers J., Davey J. Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial. Lancet. 1998 Jul 11;352(9122):98–101. doi: 10.1016/S0140-6736(98)85012-5. [DOI] [PubMed] [Google Scholar]
  58. Rebbeck T. R., Levin A. M., Eisen A., Snyder C., Watson P., Cannon-Albright L., Isaacs C., Olopade O., Garber J. E., Godwin A. K. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999 Sep 1;91(17):1475–1479. doi: 10.1093/jnci/91.17.1475. [DOI] [PubMed] [Google Scholar]
  59. Rebbeck Timothy R., Lynch Henry T., Neuhausen Susan L., Narod Steven A., Van't Veer Laura, Garber Judy E., Evans Gareth, Isaacs Claudine, Daly Mary B., Matloff Ellen. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002 May 20;346(21):1616–1622. doi: 10.1056/NEJMoa012158. [DOI] [PubMed] [Google Scholar]
  60. Roa B. B., Boyd A. A., Volcik K., Richards C. S. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996 Oct;14(2):185–187. doi: 10.1038/ng1096-185. [DOI] [PubMed] [Google Scholar]
  61. Ross R. K., Paganini-Hill A., Wan P. C., Pike M. C. Effect of hormone replacement therapy on breast cancer risk: estrogen versus estrogen plus progestin. J Natl Cancer Inst. 2000 Feb 16;92(4):328–332. doi: 10.1093/jnci/92.4.328. [DOI] [PubMed] [Google Scholar]
  62. Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D. A., Smith S., Uziel T., Sfez S. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995 Jun 23;268(5218):1749–1753. doi: 10.1126/science.7792600. [DOI] [PubMed] [Google Scholar]
  63. Schairer C., Lubin J., Troisi R., Sturgeon S., Brinton L., Hoover R. Menopausal estrogen and estrogen-progestin replacement therapy and breast cancer risk. JAMA. 2000 Jan 26;283(4):485–491. doi: 10.1001/jama.283.4.485. [DOI] [PubMed] [Google Scholar]
  64. Shapiro D. E., Boggs S. R., Melamed B. G., Graham-Pole J. The effect of varied physician affect on recall, anxiety, and perceptions in women at risk for breast cancer: an analogue study. Health Psychol. 1992;11(1):61–66. doi: 10.1037//0278-6133.11.1.61. [DOI] [PubMed] [Google Scholar]
  65. 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 May 15;52(10):2984–2986. [PubMed] [Google Scholar]
  66. Skolnick M. H., Cannon-Albright L. A., Goldgar D. E., Ward J. H., Marshall C. J., Schumann G. B., Hogle H., McWhorter W. P., Wright E. C., Tran T. D. Inheritance of proliferative breast disease in breast cancer kindreds. Science. 1990 Dec 21;250(4988):1715–1720. doi: 10.1126/science.2270486. [DOI] [PubMed] [Google Scholar]
  67. Steinberg K. K., Thacker S. B., Smith S. J., Stroup D. F., Zack M. M., Flanders W. D., Berkelman R. L. A meta-analysis of the effect of estrogen replacement therapy on the risk of breast cancer. JAMA. 1991 Apr 17;265(15):1985–1990. [PubMed] [Google Scholar]
  68. Struewing J. P., Abeliovich D., Peretz T., Avishai N., Kaback M. M., Collins F. S., Brody L. C. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995 Oct;11(2):198–200. doi: 10.1038/ng1095-198. [DOI] [PubMed] [Google Scholar]
  69. Struewing J. P., Hartge P., Wacholder S., Baker S. M., Berlin M., McAdams M., Timmerman M. M., Brody L. C., Tucker M. A. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997 May 15;336(20):1401–1408. doi: 10.1056/NEJM199705153362001. [DOI] [PubMed] [Google Scholar]
  70. Struewing J. P., Watson P., Easton D. F., Ponder B. A., Lynch H. T., Tucker M. A. Prophylactic oophorectomy in inherited breast/ovarian cancer families. J Natl Cancer Inst Monogr. 1995;(17):33–35. [PubMed] [Google Scholar]
  71. Sutcliffe S., Pharoah P. D., Easton D. F., Ponder B. A. Ovarian and breast cancer risks to women in families with two or more cases of ovarian cancer. Int J Cancer. 2000 Jul 1;87(1):110–117. doi: 10.1002/1097-0215(20000701)87:1<110::aid-ijc16>3.0.co;2-6. [DOI] [PubMed] [Google Scholar]
  72. Swift M., Reitnauer P. J., Morrell D., Chase C. L. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. 1987 May 21;316(21):1289–1294. doi: 10.1056/NEJM198705213162101. [DOI] [PubMed] [Google Scholar]
  73. Tabar L., Fagerberg G., Chen H. H., Duffy S. W., Smart C. R., Gad A., Smith R. A. Efficacy of breast cancer screening by age. New results from the Swedish Two-County Trial. Cancer. 1995 May 15;75(10):2507–2517. doi: 10.1002/1097-0142(19950515)75:10<2507::aid-cncr2820751017>3.0.co;2-h. [DOI] [PubMed] [Google Scholar]
  74. Tabár L., Fagerberg C. J., Gad A., Baldetorp L., Holmberg L. H., Gröntoft O., Ljungquist U., Lundström B., Månson J. C., Eklund G. Reduction in mortality from breast cancer after mass screening with mammography. Randomised trial from the Breast Cancer Screening Working Group of the Swedish National Board of Health and Welfare. Lancet. 1985 Apr 13;1(8433):829–832. doi: 10.1016/s0140-6736(85)92204-4. [DOI] [PubMed] [Google Scholar]
  75. Teh W., Wilson A. R. The role of ultrasound in breast cancer screening. A consensus statement by the European Group for Breast Cancer Screening. Eur J Cancer. 1998 Mar;34(4):449–450. doi: 10.1016/s0959-8049(97)10066-1. [DOI] [PubMed] [Google Scholar]
  76. Thompson D., Easton D., Breast Cancer Linkage Consortium Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001 Jan 19;68(2):410–419. doi: 10.1086/318181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  77. Tobacman J. K., Greene M. H., Tucker M. A., Costa J., Kase R., Fraumeni J. F., Jr Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian-cancer-prone families. Lancet. 1982 Oct 9;2(8302):795–797. doi: 10.1016/s0140-6736(82)92681-2. [DOI] [PubMed] [Google Scholar]
  78. Trichopoulos D., MacMahon B., Cole P. Menopause and breast cancer risk. J Natl Cancer Inst. 1972 Mar;48(3):605–613. [PubMed] [Google Scholar]
  79. Varley J. M., Evans D. G., Birch J. M. Li-Fraumeni syndrome--a molecular and clinical review. Br J Cancer. 1997;76(1):1–14. doi: 10.1038/bjc.1997.328. [DOI] [PMC free article] [PubMed] [Google Scholar]
  80. Varley J. M., McGown G., Thorncroft M., James L. A., Margison G. P., Forster G., Evans D. G., Harris M., Kelsey A. M., Birch J. M. Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. Am J Hum Genet. 1999 Oct;65(4):995–1006. doi: 10.1086/302575. [DOI] [PMC free article] [PubMed] [Google Scholar]
  81. Warner E., Plewes D. B., Shumak R. S., Catzavelos G. C., Di Prospero L. S., Yaffe M. J., Goel V., Ramsay E., Chart P. L., Cole D. E. Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol. 2001 Aug 1;19(15):3524–3531. doi: 10.1200/JCO.2001.19.15.3524. [DOI] [PubMed] [Google Scholar]
  82. Watson M., Murday V., Lloyd S., Ponder B., Averill D., Eeles R. Genetic testing in breast/ovarian cancer (BRCA1) families. Lancet. 1995 Aug 26;346(8974):583–583. doi: 10.1016/s0140-6736(95)91424-2. [DOI] [PubMed] [Google Scholar]
  83. Wonderling D., Hopwood P., Cull A., Douglas F., Watson M., Burn J., McPherson K. A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics. Br J Cancer. 2001 Jul 20;85(2):166–170. doi: 10.1054/bjoc.2001.1893. [DOI] [PMC free article] [PubMed] [Google Scholar]
  84. 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 Dec 21;378(6559):789–792. doi: 10.1038/378789a0. [DOI] [PubMed] [Google Scholar]

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