Beth N Peshkin, Georgetown University, Washington, DC, USA
Caryn E Lerman, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Published online: September 2006
DOI: 10.1002/9780470015902.a0005634
Mutations in the genes BRCA1 and BRCA2 account for most cases of hereditary breast cancer. The process of genetic counseling helps prepare individuals for the complex medical and psychosocial issues raised by genetic testing.
Keywords: BRCA1; BRCA2; genetic counseling; genetic testing; hereditary breast/ovarian cancer; cancer genetics; predictive testing; prophylactic surgery
| References | |
| Berry DA, Iversen ES, Gudbjartsson DF, et al. (2002) BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. Journal of Clinical Oncology 20: 2701–2712. | |
| Burke W, Daly M, Garber J, et al. (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Journal of the American Medical Association 277: 997–1003. | |
| Ford D, Easton DF, Stratton M, et al. (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. American Journal of Human Genetics 62: 676–689. | |
| Frank TS, Deffenbaugh AM, Reid JE, et al. (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10000 individuals. Journal of Clinical Oncology 20: 1480–1490. | |
| Lerman C, Hughes C, Croyle RT, et al. (2000) Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing. Preventive Medicine 31: 75–80. | |
| Lerman C, Hughes C, Lemon SJ, et al. (1998) What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. Journal of Clinical Oncology 16: 1650–1654. | |
| Meijers-Heijboer EJ, Verhoog LC, Brekelmans CTM, et al. (2000) Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet 355: 2015–2020. | |
| Narod SA (2002) Modifiers of risk of hereditary breast and ovarian cancer. Nature Reviews Cancer 2: 113–123. | |
| Peshkin BN, De Marco TA, Brogan BM, Lerman C and Isaacs C (2001) BRCA1/2 testing: complex themes in result interpretation. Journal of Clinical Oncology 19: 2555–2565. | |
| Schwartz MD, Peshkin BN, Hughes C, et al. (2002) The impact of BRCA1/2 mutation testing on psychological distress in a clinic-based sample. Journal of Clinical Oncology 20: 514–520. | |
| Struewing JP, Hartge P, Wacholder S, et al. (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. New England Journal of Medicine 336: 1401–1408. | |
| Further Reading | |
| Blackwood MA and Weber BL (1998) BRCA1 and BRCA2: from molecular genetics to clinical medicine. Journal of Clinical Oncology 16: 1969–1977. | |
| Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. Journal of the National Cancer Institute 91: 1310–1316. | |
| Croyle RT, Smith KR, Botkin JR, Baty B and Nash J (1997) Psychological responses to BRCA1 mutation testing: preliminary findings. Health Psychology 16: 63–72. | |
| Dorval M, Patenaude AF, Schneider KA, et al. (2000) Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. Journal of Clinical Oncology 18: 2135–2142. | |
| Hughes C, Lynch H, Durham C, et al. (1999) Communication of BRCA1/2 test results in hereditary breast cancer families. Cancer Research Therapy and Control 8: 51–59. | |
| Lerman C, Narod S, Schulman K, et al. (1996) BRCA1 testing in families with hereditary breast–ovarian cancer: a prospective study of patient decision making and outcomes. Journal of the American Medical Association 275: 1885–1892. | |
| book Lerman C and Peshkin BN (1999) "Psychosocial issues in BRCA1/2 testing". In: Bowcock AM (ed.) Breast Cancer: Molecular Genetics, Pathogenesis, and Therapeutics, pp. 247–266. Totowa, NJ: Humana Press. | |
| McKinnon WC, Baty BJ, Bennett RL, et al. (1997) Predisposition genetic testing for late-onset disorders in adults: a position paper of the National Society of Genetic Counselors. Journal of the American Medical Association 278: 1217–1220. | |
| Neuhausen SL (1999) Ethnic differences in cancer risk resulting from genetic variation. Cancer 86(Supplement): 1755–1762. | |
| Parmigiani G, Berry DA and Aguilar O (1998) Determining carrier probabilities for breast cancer susceptibility genes BRCA1 and BRCA2. American Journal of Human Genetics 62: 145–158. | |
| Schwartz MD, Hughes C, Roth J, et al. (2000) Spiritual faith and genetic testing decisions among high-risk breast cancer probands. Cancer Epidemiology, Biomarkers and Prevention 9: 381–385. | |
| Shattuck-Eidens D, Oliphant A, Shattuck-Eidens D, et al. (1997) BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing. Journal of the American Medical Association 278: 1242–1250. | |
| Unger MA, Nathanson KL, Calzone K, et al. (2000) Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. American Journal of Human Genetics 67: 841–850. | |
| Web Links | |
| ePath Breast cancer 1, early onset (BRCA1). LocusID: 672. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=672 | |
| ePath Breast cancer 2, early onset (BRCA2). LocusID: 675. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=675 | |
| ePath Breast cancer 1, early onset (BRCA1). MIM number: 113705. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?113705 | |
| ePath Breast cancer 2, early onset (BRCA2). MIM number: 600185. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600185 | |
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