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
[21]  
Begg C.B., Haile R.W., Borg A., Et al., Variation of breast cancer risk among BRCA1/2 carriers, JAMA, 299, pp. 194-201, (2008)
[22]  
Chen S., Parmigiani G., Meta-analysis of BRCA1 and BRCA2 penetrance, Journal of Clinical Oncology, 25, 11, pp. 1329-1333, (2007)
[23]  
Mavaddat N., Peock S., Frost D., Et al., Cancer risks for BRCA1 and BRCA2 Mutation carriers: Results from prospective analysis of EMBRACE, J Natl Cancer Inst, (2013)
[24]  
Castro E., Goh C., Olmos D., Et al., Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer, J Clin Oncol, 31, pp. 1748-1757, (2013)
[25]  
Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., De Die-Smulders C., Persky N., Grompe M., Joenje H., Pals G., Ikeda H., Fox E.A., D'Andrea A.D., Biallelic inactivation of BRCA2 in Fanconi anemia, Science, 297, 5581, pp. 606-609, (2002)
[26]  
Alter B.P., Rosenberg P.S., Brody L.C., Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2, Journal of Medical Genetics, 44, 1, pp. 1-9, (2007)
[27]  
Domchek S.M., Tang J., Stopfer J., Et al., Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer, Cancer Discov, 3, pp. 399-405, (2013)
[28]  
Kriege M., Brekelmans C.T.M., Boetes C., Besnard P.E., Zonderland H.M., Obdeijn I.M., Manoliu R.A., Kok T., Peterse H., Tilanus-Linthorst M.M.A., Muller S.H., Meijer S., Oosterwijk J.C., Beex L.V.A.M., Tollenaar R.A.E.M., De Koning H.J., Rutgers E.J.T., Klijn J.G.M., Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition, New England Journal of Medicine, 351, 5, (2004)
[29]  
Saslow D., Boetes C., Burke W., Harms S., Leach M.O., Lehman C.D., Morris E., Pisano E., Schnall M., Sener S., Smith R.A., Warner E., Yaffe M., Andrews K.S., Russell C.A., American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography, CA Cancer Journal for Clinicians, 57, 2, pp. 75-89, (2007)
[30]  
King M.-C., Wieand S., Hale K., Lee M., Walsh T., Owens K., Tait J., Ford L., Dunn B.K., Costantino J., Wickerham L., Wolmark N., Fisher B., Tamoxifen and breast cancer incidence among women with inherited mutations in brca1 and brca2 national surgical adjuvant breast and bowel project (nsabp-p1) breast cancer prevention trial, Journal of the American Medical Association, 286, 18, pp. 2251-2256, (2001)
12345678910