ReviewCommon hereditary cancers and implications for primary care
Section snippets
Epidemiology of inherited cancers
Great excitement in the scientific community follows the discovery of genes that predispose to cancer, but these advances take place at a pace that outstrips health-services and genetic epidemiological research into the clinical implications and applications of these discoveries. The popular image of genetics as a precise science is wrong; important uncertainties remain about the implications of mutations in BRCA, and genes associated with hereditary non-polyposis colon cancer, and the
Primary care in cancer genetics services
A range of tasks has been proposed for primary-care practitioners in cancer genetics. These include identification and counselling of individuals at increased genetic risk of disease, provision of appropriate reassurance, and referral of patients to genetics services.67 In view of the low prevalence of cancer-predisposing mutations, one might question the role of primary care. These figures, however, do not reflect the large number of patients in primary care with a family history of cancer. A
Conclusion
Advances in cancer genetics offer a model of how knowledge arising from the Human Genome Project could affect clinical medicine. Progress in our understanding of gene-environment interactions will shift the pattern of care based on diagnosis and treatment slowly towards prediction and prevention. Identification of individuals at increased risk of specific cancers depends on an accurate and detailed family history that includes primary cancer site and age of diagnosis. In the future, genotyping
References (71)
- et al.
Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review
Gastroenterology
(1993) - et al.
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
Lancet
(1994) - et al.
Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients
Am J Hum Genet
(1998) - et al.
Population-based study of risk of breast cancer in carriers of BRCA2 mutation
Lancet
(1998) - et al.
Prevention of breast cancer with tamoxifen: preliminary findings from the Italian randomised trial among hysterectomised women—Italian Tamoxifen Prevention Study
Lancet
(1998) - et al.
Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial
Lancet
(1998) - et al.
Screening for ovarian cancer: a pilot randomised controlled trial
Lancet
(1999) - et al.
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
Gastroenterology
(2000) - et al.
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
Am J Hum Genet
(1998) BRCA1 and BRCA2 testing: weighing the demand against the benefits
Am J Hum Genet
(1999)
Assessing individual risk for breast cancer: risky business
J Clin Epidemiol
New clinical criteria for HNPCC proposed by the International Collaborative Group on HNPCC
Gastroenterology
Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation
Lancet
Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
Am J Hum Genet
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
Nat Genet
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%
Nat Genet
The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations
J Med Genet
Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study
J Med Genet
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
N Engl J Med
Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13
Am J Hum Genet
Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer
J Natl Cancer Inst
Cancer risk in mutation carriers of DNA-mismatch-repair genes
Int J Cancer
Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer
N Engl J Med
Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study
J Natl Cancer Inst
The effect of raloxifene on risk of breast cancer in postmenopausal women: results from the MORE randomized trial—multiple outcomes of Raloxifene evaluation
JAMA
Performance of screening mammography among women with and without a first-degree relative with breast cancer
Ann Intern Med
Decision analysis: effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations
N Engl J Med
Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers
J Natl Cancer Inst
Oral contraceptives and the risk of hereditary ovarian cancer
N Engl J Med
Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival
Gut
Introduction, history and registries
The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis
N Engl J Med
Chemoprevention of colorectal cancer
N Engl J Med
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families
Am J Hum Genet
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
N Engl J Med
Cited by (61)
An Update on Screening and Prevention for Breast and Gynecological Cancers in Average and High Risk Individuals
2020, American Journal of the Medical SciencesProspective of colon cancer treatments and scope for combinatorial approach to enhanced cancer cell apoptosis
2013, Critical Reviews in Oncology/HematologyManagement of Women Who Have a Genetic Predisposition for Breast Cancer
2008, Surgical Clinics of North AmericaGenetics in clinical practice: General practitioners' educational priorities in European countries
2008, Genetics in MedicineCitation Excerpt :CME in genetics seemed to be only a moderate priority among primary care providers perhaps because of the increasing general workloads and the daunting complexity of increasing genetic knowledge.6,17 However, GPs gave high scores to genetic knowledge about common diseases and perhaps because of well-publicized progress in testing in cancer in particular6,18 and also with other common diseases.4 Primary care providers considered training in risk assessment in clinical practice as a more important educational priority than innovations and ethical aspects.
The role of interleukin 7 receptor alpha (Il7ra) Rs6897932 gene polymorphism in the development of breast cancer among women in Kerala population, South India
2020, International Journal of Scientific and Technology ResearchSurveillance of Patients Following Primary Therapy
2019, Breast Disease: Management and Therapies: Volume 2, Second Edition