924
Views
37
CrossRef citations to date
0
Altmetric
Reviews

Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer

, , &

References

  • Baker S, Lichtenstein P, Kaprio J Holm N. Genetic susceptibility to prostate, breast, and colorectal cancer among Nordic twins. Biometrics 2005;61:55-63
  • Evans DG, Shenton A, Woodward E, et al. Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer 2008;8:155
  • Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378(6559):789-92
  • Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266(5182):66-7
  • Economopoulou P, Dimitriadis G, Psyrri A. Beyond BRCA: new hereditary breast cancer susceptibility genes. Cancer Treat Rev 2014;41(1):1-8
  • Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 2014;371:497-506
  • Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38(8):873-5
  • Cybulski C, Wokolorczyk D, Jakubowska A, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol 2011;29(28):3747-52
  • Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol 2010;4(3):174-91
  • Hilbers FS, Vreeswijk MP, van Asperen CJ, Devilee P. The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation? Clin Genet 2013;84(5):407-14
  • Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 2014;32(19):2001-9
  • Walsh T, Casadei S, Coats KH, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006;295(12):1379-88
  • Castera L, Krieger S, Rousselin A, et al. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 2014;22(11):1305-13
  • Doherty J, Bonadies DC, Matloff ET. Testing for hereditary breast cancer: panel or targeted testing? Experience from a clinical cancer genetics practice. J Genet Couns 2014. [Epub ahead of print]
  • Kuusisto KM, Bebel A, Vihinen M, et al. Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res 2011;13(1):R20
  • Chong HK, Wang T, Lu HM, et al. The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay. PLoS ONE 2014;9(5):e97408
  • Cybulski C, Lubinski J, Wokolorczyk D, et al. Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. Clin Genet 2014; Epub ahead of print
  • Schroeder C, Faust U, Sturm M, et al. HBOC multi-gene panel testing: comparison of two sequencing centers. Breast Cancer Res Treat 2015. [Epub ahead of print]
  • Yang X, Wu J, Lu J, et al. Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing. PLoS One 2015;10(4):e0125571
  • Churpek JE, Walsh T, Zheng Y, et al. Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat 2015;149(1):31-39
  • Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 2015;121(1):25-33
  • Maxwell KN, Wubbenhorst B, D’Andrea K, et al. Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet Med 2014. [Epub ahead of print]
  • Mauer CB, Pirzadeh-Miller SM, Robinson LD, Euhus DM. The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genet Med 2014;16(5):407-12
  • LaDuca H, Stuenkel AJ, Dolinsky JS, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med 2014;16(11):830-7
  • Couch FJ, Hart SN, Sharma P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol 2015;33(4):304-11
  • Easton DF, Pharoah PD, Antoniou AC, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 2015;372(23):2243-57
  • Hwang SJ, Lozano G, Amos CI, Strong LC. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet 2003;72:975-83
  • Pharoah P, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-Cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterol 2001;121:1348-53
  • Tan M, Mester J, Ngeow J, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012;18:400-7
  • Hearle N, Schumacher V, Menko F, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006;12:3209
  • Cybulski C, Kluzniak W, Huzarski T, et al. Clinical characteristics in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol 2015;16:638-44
  • Goldgar DE, Healey S, Dowty JG, et al. Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res 2011;13(4):R73
  • Bernstein JL, Teraoka S, Southey MC, et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum Mutat 2006;27(11):1122-8
  • Tavtigian S, Oefner PJ, Babikyan D, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risks of breast cancer. Am J Hum Genet 2006;85(4):427-46
  • Zhang ZH, Yang LS, Huang F, et al. Current evidence on the relationship between two polymorphisms in the NBS1 gene and breast cancer risk: a meta-analysis. Asian Pac J Cancer Prev 2012;13:5375-9
  • Heikkinen K, Rapakko K, Karppinen SM, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. J Med Genet 2003;40:e131
  • Damiola F, Pertesi M, Oliver J, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Res 2014;16:R58
  • Seal S, Thompson D, Renwick A, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006;38(11):1239-41
  • National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. NCCN Clinical Practice Guidelines in Oncology. Volume 1 NCCN; Fort Washington, PA: 2014
  • Birch JM, Hartley AL, Tricket KJ, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994;54:1298-304
  • Loveday C, Turbnull C, Ruark E, et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Clin Genet 2012;44(5):475-6
  • Sopik V, Akbari MR, Narod SA. Genetic testing for RAD51C mutations: in the clinic and community. Clin Genet 2014
  • Cybulski C, Carrot-Zhang J, Kluzniak W, et al. Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet 2015;47(6):643-6

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.