Hereditary Risk for Cancer
- 361 Downloads
Cancer prevention consists of understanding cancer incidence in populations, identifying appropriate risk factors for specific cancers, stratifying individuals according to these risk factors, and applying effective interventions to individuals (and sometimes populations) according to their risk status. Evaluation of hereditary risk of cancer is a vital component of risk stratification. Appropriate assessment of hereditary genetic risk can lead to significant changes in the clinical management of individuals who are found to have a hereditary cancer syndrome; conversely, it can identify individuals who are not at elevated risk despite having a strong familial history of cancer. Through cancer risk evaluation, with or without genetic testing for hereditary cancer syndromes, individuals with inherited genetic changes associated with increased predisposition of cancer can be identified prior to the development or diagnosis of cancer. Determining that an individual has a strong inherited predisposition to cancer provides an opportunity to intervene with prevention and screening strategies documented to reduce cancer incidence, morbidity, or mortality.
KeywordsGenetic counseling Hereditary cancers Cancer risk assessment BRCA Hereditary breast and ovarian cancer Lynch syndrome Hereditary nonpolyposis colorectal cancer
The authors are indebted to Katherine S. Hunt, CGC, and Jessica Ray, CGC, for their work on previous versions of this chapter.
- Ad Hoc Committee on Genetic Counseling (1975) Genetic counseling. Am J Hum Genet 27(2):240–242Google Scholar
- Ajani JA et al (2017) Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Gastric Cancer V.5.2017. © National Comprehensive Cancer Network, Inc. 2017. All rights reserved. Accessed 4 Mar 2018. To view the most recent and complete version of the guideline, go online to NCCN.org.
- Amos C, Frazier M, McGarrity T (2007) Peutz-Jeghers syndrome. In: GeneReviews. www.genetests.org, University of Washington. Accessed 27 Mar 2008
- ASHG (1994) Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet 55(5):i–ivGoogle Scholar
- Daly MB et al (2018) Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast and Ovarian V.1.2018. © National Comprehensive Cancer Network, Inc. 2018. All rights reserved. Accessed 4 Mar 2018. To view the most recent and complete version of the guideline, go online to NCCN.org.
- Franks LM, Teich NM (1997) Introduction to the cellular and molecular biology of cancer. Oxford University Press, LondonGoogle Scholar
- Kapoor NS, Curcio LD et al (2015) Multigene panel testing detects equal rates of pathogenic BRCA 1/2 mutations and has a higher diagnostic yield compared to limited BRCA 1/2 analysis alone in patients at risk for hereditary breast cancer. Ann Surg Oncol 22(10):3282–3288PubMedCrossRefPubMedCentralGoogle Scholar
- NCI (1998) Breast cancer risk assessment tool for health care providers. N. C. I. Office of Cancer Communication, BethesdaGoogle Scholar
- NCI (2007) Breast cancer risk assessment tool. http://bcra.nci.nih.gov/brc/. Accessed 21 Feb 2018
- Nelson HD, Huffman LH, Fu R, Harris EL, U.S. Preventive Services Task Force (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence for review for the US Preventive Services Task Force. Ann Intern Med 143:362–379PubMedCrossRefPubMedCentralGoogle Scholar
- Nussbaum RL, McInnes RR, Willard HF (2001) Thompson and Thompson genetics in medicine. W.B. Saunders Company, PhiladelphiaGoogle Scholar
- Offit K (1997) Clinical cancer genetics: risk counseling and management. Wiley-Liss, New YorkGoogle Scholar
- Parmigiani G, Wang W (2004) BRCAPRO. B. Lab, http://astor.som.jhmi.edu/BayesMendel/brcapro.html. Accessed 10 Nov 2004
- Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113(4):1146–1158PubMedCrossRefPubMedCentralGoogle Scholar
- Peters JA, Stopfer JE (1996) Role of the genetic counselor in familial cancer. Oncology (Williston Park) 10(2):159–166Google Scholar
- Provenzale D, et al (2017) Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2018. © National Comprehensive Cancer Network, Inc. 2018. All rights reserved. Accessed 4 Mar 2018. To view the most recent and complete version of the guideline, go online to NCCN.org
- Schneider K (2001) Counseling about cancer: strategies for genetic counseling. Wiley-Liss, New YorkGoogle Scholar
- Solomon C, Burt RW (2004) Familial adenomatous polyposis. In: GeneReviews. www.genetests.org, University of Washington. Accessed 2 Apr 2004
- Weischer M, Bojesen SE, Tybjaerg-Hansen A, Axelsson CK, Nordestgaard BG (2007) Increased risk of breast cancer associated with CHEK2*1100delC germline mutation. J Clin Oncol 25:64–69Google Scholar