Identifying hereditary cancer: Genetic counseling and cancer risk assessment

Current Problems in Cancer

Volumn 38, Issue 6, 2014, Pages 216-225

  Marie Lewis, Kimberly ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER GENETICS; CANCER RISK; CANCER SUSCEPTIBILITY; FAMILIAL CANCER; FAMILY HISTORY; FOLLOW UP; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HUMAN; INFORMED CONSENT; MEDICAL HISTORY; PSYCHOSOCIAL CARE; RISK ASSESSMENT; ANAMNESIS; GENETIC PREDISPOSITION; GENETICS; NEOPLASTIC SYNDROMES, HEREDITARY; PROCEDURES;

GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MEDICAL HISTORY TAKING; NEOPLASTIC SYNDROMES, HEREDITARY; RISK ASSESSMENT;

EID: 84915804424     PISSN: 01470272     EISSN: 15356345     Source Type: Journal    
DOI: 10.1016/j.currproblcancer.2014.10.002     Document Type: Article

References (46)

1. Riley B.D., Culver J.O., Skrzynia C., et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 2012, 21(2):151-161.
2. Trepanier A., Ahrens M., McKinnon W., et al. Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. J Genet Couns 2004, 13(2):83-114.
3. Meaney-Delman D., Bellcross C.A. Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. Obstet Gynecol Clin North Am 2013, 40(3):475-512.
4. Commission on Cancer. Cancer Program Standards 2012: ensuring patient-centered care.V1.1. 2012 Accessed 01.03.12. http://www.facs.org/cancer/coc/programstandards2012.pdf.
5. Bennett R.L., French K.S., Resta R.G., Doyle D.L. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008, 17(5):424-433.
6. Scheider K. Counseling About Cancer: Strategies for Genetic Counseling 2012, John Wiley & Sons, Hoboken, NJ. 3rd ed.
7. Weitzel J.N., Lagos V.I., Cullinane C.A., et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. J Am Med Assoc 2007, 297(23):2587-2595.
8. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 2005, 143(5):355-361. United States Preventive Services Task Force.
9. Moyer V.A. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 2014, 160(4):271-281.
10. National Comprehensive Cancer Network. NCCN Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2014. 2014 Accessed 01.09.14. http://www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf.
11. Amir E., Freedman O.C., Seruga B., Evans D.G. Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst 2010, 102(10):680-691.
12. Gail M.H., Mai P.L. Comparing breast cancer risk assessment models. J Natl Cancer Inst 2010, 102(10):665-668.
13. Antoniou A.C., Easton D.F. Risk prediction models for familial breast cancer. Future Oncol 2006, 2(2):257-274.
14. Bellcross C. Approaches to applying breast cancer risk models in clinical practice. Communuity Oncol 2009, 6(8):373-392.
15. Gail M.H., Brinton L.A., Byar D.P., et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989, 81(24):1879-1886.
16. Kastrinos F., Steyerberg E.W., Mercado R., et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2011, 140(1):73-81.
17. Barnetson R.A., Tenesa A., Farrington S.M., et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. New Engl J Med 2006, 354(26):2751-2763.
18. Chen S., Wang W., Lee S., et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. J Am Med Assoc 2006, 296(12):1479-1487.
19. Monzon J.G., Cremin C., Armstrong L., et al. Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer. Int J Cancer 2010, 126(4):930-939.
20. Pouchet C.J., Wong N., Chong G., et al. A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers. Ann Oncol 2009, 20(4):681-688.
21. Mercado R.C., Hampel H., Kastrinos F., et al. Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases. Genet Med 2012, 14(7):670-680.
22. Wang W., Chen S., Brune K.A., et al. PancPRO: risk assessment for individuals with a family history of pancreatic cancer. J Clin Oncol 2007, 25(11):1417-1422.
23. Wang W., Niendorf K.B., Patel D., et al. Estimating CDKN2A carrier probability and personalizing cancer risk assessments in hereditary melanoma using MelaPRO. Cancer Res 2010, 70(2):552-559.
24. Tan M.H., Mester J., Peterson C., et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 2011, 88(1):42-56.
25. Gilpin C.A., Carson N., Hunter A.G. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet 2000, 58(4):299-308.
26. Evans D.G., Eccles D.M., Rahman N., et al. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet 2004, 41(6):474-480.
27. Bellcross C.A., Lemke A.A., Pape L.S., Tess A.L., Meisner L.T. Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genet Med 2009, 11(11):783-789.
28. Bellcross C. Further development and evaluation of a breast/ovarian cancer genetics referral screening tool. Genet Med 2010, 12(4):240.
29. Hoskins K.F., Zwaagstra A., Ranz M. Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer 2006, 107(8):1769-1776.
30. Ashton-Prolla P., Giacomazzi J., Schmidt A.V., et al. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer 2009, 9:283.
31. Hampel H., Sweet K., Westman J.A., Offit K., Eng C. Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet 2004, 41(2):81-91.
32. National Cancer Institute. PDQ® Cancer genetics risk assessment and counseling. Accessed 01.09.14. http://www.cancer.gov/cancertopics/pdq/genetics/risk-assessment-and-counseling/HealthProfessional/.
33. Berliner J.L., Fay A.M., Cummings S.A., Burnett B., Tillmanns T. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 2013, 22(2):155-163.
34. Robson M.E., Storm C.D., Weitzel J., Wollins D.S., Offit K. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010, 28(5):893-901.
35. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol 2009, 113(4):957-966. American Congress of Obstetricians and Gynecologists.
36. Society of Gynecologic Oncology. SGO clinical practice statement: genetic testing for ovarian cancer. Accessed 01.09.14. http://www.sgo.org/clinical-practice/guidelines/genetic-testing-for-ovarian-cancer/.
37. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009, 11(1):35-41. Evaluation of Genetic Applications in Practice and Prevention.
38. National Comprehensive Cancer Network. NCCN genetic/familial high-risk assessment: colorectal. 2014; Version 2.2014. Accessed 01.09.14. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf.
39. Domchek S.M., Bradbury A., Garber J.E., Offit K., Robson M.E. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?. J Clin Oncol 2013, 31(10):1267-1270.
40. Rainville I.R., Rana H.Q. Next-generation sequencing for inherited breast cancer risk: counseling through the complexity. Curr Oncol Rep 2014, 16(3):371.
41. Hamilton J.G., Lobel M., Moyer A. Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review. Health Psychol 2009, 28(4):510-518.
42. National Human Genome Research Institute. Genetic discrimination. Accessed 01.09.14. http://www.genome.gov/10002077.
43. Hall J.P., Moore J.M. The Affordable Care Act[U+05F3]s pre-existing condition insurance plan: enrollment, costs, and lessons for reform. Issue Brief (Commonw Fund) 2012, 24:1-13.
44. Offit K., Thom P. Ethicolegal aspects of cancer genetics. Cancer Treat Res 2010, 155:1-14.
45. Offit K., Groeger E., Turner S., Wadsworth E.A., Weiser M.A. The "duty to warn" a patient[U+05F3]s family members about hereditary disease risks. J Am Med Assoc 2004, 292(12):1469-1473.
46. Meiser B. Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psychooncology 2005, 14(12):1060-1074.