Familial risks for cancer as the basis for evidence-based clinical referral and counseling

Oncologist

Volumn 13, Issue 3, 2008, Pages 239-247

  Hemminki, Kari ^a,b   Sundquist, Jan ^b   Bermejo, Justo Lorenzo ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Clinical genetic counseling; Familial risk; Genetic testing; Prevention; Referral of familial cancers

Indexed keywords

ADULT; AGED; ARTICLE; BLADDER CANCER; BREAST CANCER; CANCER EPIDEMIOLOGY; CANCER PATIENT; CANCER RISK; COLON CANCER; CONNECTIVE TISSUE TUMOR; ENDOMETRIUM CANCER; ESOPHAGUS CANCER; FAMILIAL CANCER; FAMILY COUNSELING; FEMALE; HODGKIN DISEASE; HUMAN; KIDNEY CANCER; LIVER CANCER; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MELANOMA; MYELOMA; NONHODGKIN LYMPHOMA; OVARY TUMOR; PANCREAS CANCER; PATIENT REFERRAL; PRIORITY JOURNAL; PROSTATE CANCER; RECTUM CANCER; SKIN CANCER; STOMACH CANCER; TESTIS CANCER; THYROID TUMOR; UTERINE CERVIX CANCER;

AGE FACTORS; EVIDENCE-BASED MEDICINE; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC SCREENING; HUMANS; INCIDENCE; NEOPLASMS; PILOT PROJECTS; REFERRAL AND CONSULTATION; REGISTRIES; RISK ASSESSMENT; RISK FACTORS; SWEDEN;

EID: 43549104916     PISSN: 10837159     EISSN: 1549490X     Source Type: Journal    
DOI: 10.1634/theoncologist.2007-0242     Document Type: Article

References (56)

1. Guttmacher AE, Collins FS, Carmona RH. The family history-more important than ever. N Engl J Med 2004;351:2333-2336.
2. Hemminki K, Lorenzo Bermejo J, Försti A. The balance between heritable and environmental aetiology of human disease. Nat Rev Genet 2006;7:958-965.
3. Hopper JL, Bishop DT, Easton DF. Population-based family studies in genetic epidemiology. Lancet 2005;366:1397-1406.
4. Center for Epidemiology. Cancer Incidence in Sweden 2002. Stockholm: The National Board of Health and Welfare, 2004:1-32.
5. Vogelstein B, Kinzler K. The Genetic Basis of Human Cancer, Second Edition. New York: McGraw-Hill, 2002:1-821.
6. Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol 2005;23:276-292.
7. Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004;23:6445-6470.
8. Hampel H, Sweet K, Westman J et al. Referral for cancer genetics consultation: A review and compilation of risk assessment criteria. J Med Genet 2004;41:81-91.
9. Hemminki K, Eng C. Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans. J Med Genet 2004;41:801-807.
10. Eng C, Hampel H, de la Chapelle A. Genetic testing for cancer predisposition. Annu Rev Med 2001;52:371-400.
11. Petersen G, Codori A-M. Genetic testing for familial cancer. In: Vogelstein B, Kinzler K, eds. The Genetic Basis of Human Cancer, Second Edition. New York: McGraw-Hill, 2002:643-656.
12. American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 2003;21:2397-2406.
13. Epplein M, Koon KP, Ramsey SD et al. Genetic services for familial cancer patients: A follow-up survey of National Cancer Institute Cancer Centers. J Clin Oncol 2005;23:4713-4718.
14. Hemminki K, Li X, Plna K et al. The nation-wide Swedish Family-Cancer Database: Updated structure and familial rates. Acta Oncol 2001;40:772-777.
15. Couto E, Chen B, Hemminki K. Association of childhood acute lymphoblastic leukaemia with cancers in family members. Br J Cancer 2005;93:1307-1309.
16. Hemminki K, Chen B. Familial risks for eye melanoma and retinoblastoma: Results from the Swedish Family-Cancer Database. Melanoma Res 2006;16:191-195.
17. Hemminki K, Li X. Familial risk of cancer by site and histopathology. Int J Cancer 2003;103:105-109.
18. Hemminki K, Granström C, Sundquist J et al. The updated Swedish Family-Cancer Database used to assess familial risks of prostate cancer during rapidly increasing incidence. Heredit Cancer Clin Pract 2006;4:186-192.
19. Hemminki K, Dong C. Population-based study of familial medullary thyroid cancer. Fam Cancer 2001;1:45-49.
20. Esteve J, Benhamou E, Raymond L. Statistical Methods in Cancer Research. Lyon, France: IARC, 1994:1-302.
21. Hemminki K, Vaittinen P, Dong C et al. Sibling risks in cancer: Clues to recessive or X-linked genes? Br J Cancer 2001;84:388-391.
22. Goldgar DE, Easton DF, Cannon-Albright LA et al. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 1994;86:1600-1607.
23. Gail MH, Brinton LA, Byar DP et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989;81:1879-1886.
24. Claus EB, Risch NJ, Thompson WD. Age at onset as an indicator of familial risk of breast cancer. Am J Epidemiol 1990;131:961-972.
25. Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004;23:1111-1130.
26. Thompson IM, Ankerst DP, Chi C et al. Assessing prostate cancer risk: Results from the Prostate Cancer Prevention Trial. J Natl Cancer Inst 2006;98:529-534.
27. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 2004;292:1480-1489.
28. Chang ET, Smedby KE, Hjalgrim H et al. Reliability of self-reported family history of cancer in a large case-control study of lymphoma. J Natl Cancer Inst 2006;98:61-68.
29. Lorenzo Bermejo J, Garcia Perez A, Hemminki K. Contribution of the defective BRCA1, BRCA2 and CHEK2 genes to the familial aggregation of breast cancer: A simulation study based on the Swedish Family-Cancer Database. Heredit Cancer Clin Pract 2004;2:185-191.
30. Lorenzo Bermejo J, Hemminki K. A population-based assessment of the clustering of breast cancer in families eligible for testing of BRCA1 and BRCA2 mutations. Ann Oncol 2005;16:322-329.
31. Bermejo JL, Eng C, Hemminki K. Cancer characteristics in Swedish families fulfilling criteria for hereditary nonpolyposis colorectal cancer. Gastroenterology 2005;129:1889-1899.
32. Lorenzo Bermejo J, Bc̈hner FL, Hemminki K. Familial risk of endometrial cancer after exclusion of families that fulfilled Amsterdam, Japanese or Bethesda criteria for HNPCC. Ann Oncol 2004;15:598-604.
33. Czene K, Hemminki K. Kidney cancer in the Swedish Family Cancer Database: Familial risks and second primary malignancies. Kidney Int 2002;61:1806-1813.
34. Bishop DT, Demenais F, Goldstein AM et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 2002;94:894-903.
35. Lindor NM, Greene MH. A concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst 1998;90:1039-1071.
36. Hemminki K, Li X. Familial risks in nervous system tumors. Cancer Epidemiol Biomarkers Prev 2003;12:1137-1142.
37. Malmer B, Iselius L, Holmberg E et al. Genetic epidemiology of glioma. Br J Cancer 2001;84:429-434.
38. Cybulski C, Gorski B, Huzarski T et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 2004;75:1131-1135.
39. Meijers-Heijboer H, Wijnen J, Vasen H et al. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 2003;72:1308-1314.
40. Cox A, Dunning AM, Garcia-Closas M et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007;39:352-358.
41. Easton DF, Pooley KA, Dunning AM et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007;447:1087-1093.
42. Erkko H, Xia B, Nikkila J et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007;446:316-319.
43. Renwick A, Thompson D, Seal S et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-875.
44. Seal S, Thompson D, Renwick A et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006;38:1239-1241.
45. Stacey SN, Manolescu A, Sulem P et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007;39:865-869.
46. Steffen J, Nowakowska D, Niwinska A et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 2006;119:472-475.
47. Tenesa A, Campbell H, Barnetson R et al. Association of MUTYH and colorectal cancer. Br J Cancer 2006;95:239-242.
48. Haiman CA, Le Marchand L, Yamamato J et al. A common genetic risk factor for colorectal and prostate cancer. Nat Genet 2007;39:954-956.
49. Amundadottir LT, Sulem P, Gudmundsson J et al. A common variant associated with prostate cancer in European and African populations. Nat Genet 2006;38:652-658.
50. Tomlinson I, Webb E, Carvajal-Carmona L et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007;39:984-988.
51. Hemminki K, Bermejo JL. Constraints for genetic association studies imposed by attributable fraction and familial risk. Carcinogenesis 2007;28:648-656.
52. Hemminki K, Li X. Familial risks of cancer as a guide to gene identification and mode of inheritance. Int J Cancer 2004;110:291-294.
53. Bermejo JL, Hemminki K. Familial risk of cancer shortly after diagnosis of the first familial tumor. J Natl Cancer Inst 2005;97:1575-1579.
54. Hemminki K, Li X. Familial risk in testicular cancer as a clue to a heritable and environmental aetiology. Br J Cancer 2004;90:1765-1770.
55. Rapley EA, Crockford GP, Teare D et al. Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet 2000;24:197-200.
56. Smith RA, Cokkinides V, Eyre HJ. American Cancer Society guidelines for the early detection of cancer, 2006. CA Cancer J Clin 2006;56:11-25; quiz 49-50.