Familial breast cancer risk

被引：5
作者：
Maxwell K.N. [1 ]
Domchek S.M. [2 ]
机构：
[1] Division of Hematology/Oncology, Department of Internal Medicine, University of Pennsylvania, Philadelphia, PA 19104
[2] Abramson Cancer Center, Department of Internal Medicine, University of Pennsylvania, Philadelphia, PA 19104
来源：
Current Breast Cancer Reports | 2013年 / 5卷 / 3期
基金：
美国国家卫生研究院;
关键词：
ATM; BRCA1; BRCA2; Breast cancer; Breast cancer susceptibility; BRIP1; Cancer predisposition syndromes; CDH1; CHEK2; Cowden syndrome; Familial breast cancer; Hereditary breast ovarian cancer syndrome; Li Fraumeni syndrome; Moderate penetrance; PALB2; PTEN; STK11; TP53;
D O I：
10.1007/s12609-013-0117-9
中图分类号：
学科分类号：
摘要：
The most well recognized breast cancer susceptibility genes are BRCA1 and BRCA2. Studies in individuals carrying mutations in these genes have led to clinical care guidelines for screening and prevention. Beyond BRCA1 and BRCA2, mutations in TP53, PTEN, STK11, and CDH1 also significantly increase the risk of breast cancer. Early identification of women at increased risk of breast cancer due to specific genetic susceptibility may lead to enhanced screening and prevention strategies and potentially improved overall survival for this group of patients as has been seen with carriers of BRCA1 and BRCA2 mutations. In addition to high penetrance genes, increasing numbers of genes that confer a moderate risk of breast cancer have been identified such as CHEK2, PALB2, and ATM; however, the clinical application of these genes is much more challenging. This review will discuss both high and moderate penetrance breast cancer susceptibility genes. © 2013 Springer Science+Business Media New York.
引用
收藏
页码：170 / 182
页数：12
相关论文
共 137 条
[1]  
Howlader N., Noone A.M., Krapcho M., Et al., SEER Cancer Statistics Review, 1975-2009, (2011)
[2]  
Daly M.B., Axilbund J.E., Buys S., Et al., Genetic/familial high-risk assessment: Breast and ovarian, J Natl Compr Canc Netw, 8, pp. 562-594, (2010)
[3]  
Foulkes W.D., Inherited susceptibility to common cancers, N Engl J Med, 359, pp. 2143-2153, (2008)
[4]  
Pharoah P.D., Antoniou A., Bobrow M., Et al., Polygenic susceptibility to breast cancer and implications for prevention, Nat Genet, 31, pp. 33-36, (2002)
[5]  
Maxwell K.N., Domchek S.M., Cancer treatment according to BRCA1 and BRCA2 mutations, Nat Rev Clin Oncol, 9, pp. 520-528, (2012)
[6]  
Michailidou K.P., Hall A., Gonzalez-Neira, Et al., Large-scale genotyping identifies 41 new loci associated with breast cancer risk, Nat Genet, 45, pp. 353-361, (2013)
[7]  
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases, Br J Cancer, 83, pp. 1301-1308, (2000)
[8]  
Antoniou A., Pharoah P.D.P., Narod S., Risch H.A., Eyfjord J.E., Hopper J.L., Loman N., Olsson H., Johannsson O., Borg A., Pasini B., Radice P., Manoukian S., Eccles D.M., Tang N., Olah E., Anton-Culver H., Warner E., Lubinski J., Gronwald J., Gorski B., Tulinius H., Thorlacius S., Eerola H., Nevanlinna H., Syrjakoski K., Kallioniemi O.-P., Thompson D., Evans C., Peto J., Lalloo F., Evans D.G., Easton D.F., Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations dete
[9]  
Gonzalez K.D., Buzin C.H., Noltner K.A., Et al., High frequency of de novo mutations in Li-Fraumeni syndrome, J Med Genet, 46, pp. 689-693, (2009)
[10]  
Hwang S.-J., Lozano G., Amos C.I., Strong L.C., Germline p53 mutations in a cohort with childhood sarcoma: Sex differences in cancer risk, American Journal of Human Genetics, 72, 4, pp. 975-983, (2003)
12345678910