Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing

Journal of the American College of Radiology

Volumn 14, Issue 4, 2017, Pages 561-568

  Rosenthal, Eric T ^a   Evans, Brent ^a   Kidd, John ^a   Brown, Krystal ^a   Gorringe, Heidi ^a   van Orman, Michael ^a   Manley, Susan ^a  

^a Utah   (United States)

Author keywords

breast MRI; genetic testing; Inherited breast cancer risk

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; PALB2 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN; PROTEIN KINASE LKB1; PROTEIN P53; UNCLASSIFIED DRUG; UVOMORULIN;

ADULT; ARTICLE; BREAST CANCER; BREAST EXAMINATION; CANCER RISK; CANCER SCREENING; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY TUMOR; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; NUCLEAR MAGNETIC RESONANCE IMAGING; PREDICTIVE VALUE; AGED; BREAST TUMOR; DIAGNOSTIC IMAGING; EARLY CANCER DIAGNOSIS; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PATIENT SELECTION; RISK FACTOR;

ADULT; AGED; BREAST NEOPLASMS; EARLY DETECTION OF CANCER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; PATIENT SELECTION; RISK FACTORS;

EID: 85008239797     PISSN: 15461440     EISSN: 1558349X     Source Type: Journal    
DOI: 10.1016/j.jacr.2016.10.003     Document Type: Article

References (42)

1. 1 Daly M, Pilarski R, Axilbund JE, et al. Genetic/familial high-risk assessment: breast and ovarian. Version 2.2016. NCCN Clinical Practice Guidelines in Oncology. Available at: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf.
2. 2 Bevers TB, Helvie M, Bonaccio E, et al. Breast cancer screening and diagnosis. NCCN Clinical Practice Guidelines in Oncology. Available at: http://www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf.
3. 3 Saslow, D., Boetes, C., Burke, W., et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J 57 (2007), 75–89.
4. 4 Ozanne, E.M., Drohan, B., Bosinoff, P., et al. Which risk model to use? Clinical implications of the ACS MRI screening guidelines. Cancer Epidemiol Biomarkers Prev 22 (2013), 146–149.
5. 5 Nelson, H.D., Pappas, M., Zakher, B., Mitchell, J.P., Okinaka-Hu, L., Fu, R., Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med 160 (2014), 255–266.
6. 6 Chen, S., Iversen, E.S., Friebel, T., et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24 (2006), 863–871.
7. 7 Easton, D.F., Ford, D., Bishop, D.T., Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56 (1995), 265–271.
8. 8 Ford, D., Easton, D.F., Stratton, M., et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62 (1998), 676–689.
9. 9 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 105 (2013), 812–822.
10. 10 Hansford, S., Kaurah, P., Li-Chang, H., et al. Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol 1 (2015), 23–32.
11. 11 Pharoah, P.D., Guilford, P., Caldas, C., Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121 (2001), 1348–1353.
12. 12 Bubien, V., Bonnet, F., Brouste, V., et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 50 (2013), 255–263.
13. 13 Riegert-Johnson, D.L., Gleeson, F.C., Roberts, M., et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract, 8, 2010, 6.
14. 14 Tan, M.H., Mester, J.L., Ngeow, J., Rybicki, L.A., Orloff, M.S., Eng, C., Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18 (2012), 400–407.
15. 15 Provenzale D, Gupta S, Ahnen DJ, et al. Colorectal cancer screening v. 1.2016. NCCN Clinical Practice Guidelines in Oncology. Available at: http://www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf.
16. 16 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. Am J Hum Genet 72 (2003), 975–983.
17. ®, 1993, University of Washington, Seattle.
18. 18 Ahmed, M., Rahman, N., ATM and breast cancer susceptibility. Oncogene 25 (2006), 5906–5911.
19. 19 Swift, M., Morrell, D., Massey, R.B., Chase, C.L., Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325 (1991), 1831–1836.
20. 20 Thompson, D., Duedal, S., Kirner, J., et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 97 (2005), 813–822.
21. 21 CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74 (2004), 1175–1182.
22. 22 Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31 (2002), 55–59.
23. 23 Weischer, M., Bojesen, S.E., Ellervik, C., Tybjaerg-Hansen, A., Nordestgaard, B.G., CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 26 (2008), 542–548.
24. 24 Weischer, M., Nordestgaard, B.G., Pharoah, P., et al. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol 30 (2012), 4308–4316.
25. 25 Antoniou, A.C., Casadei, S., Heikkinen, T., et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371 (2014), 497–506.
26. 26 Casadei, S., Norquist, B.M., Walsh, T., et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 71 (2011), 2222–2229.
27. 27 Erkko, H., Xia, B., Nikkila, J., et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 446 (2007), 316–319.
28. 28 Rahman, N., Seal, S., Thompson, D., et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39 (2007), 165–167.
29. 29 Judkins, T., Leclair, B., Bowles, K., et al. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk. BMC Cancer, 15, 2015, 215.
30. 30 Eggington, J.M., Bowles, K.R., Moyes, K., et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet 86 (2014), 229–237.
31. 31 Richards, S., Aziz, N., Bale, S., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17 (2015), 405–424.
32. 32 Coffee, B., Cox, H., Sizemore, S., Manley, S., Mancini-Dinardo, D., Detection of somatic variants in peripheral blood lymphocytes using a 25-gene hereditary cancer panel. ASCO Meeting Abstr, 34(15_suppl), 2016, 1580.
33. 33 Claus, E.B., Risch, N., Thompson, W.D., Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 73 (1994), 643–651.
34. 34 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 22 (2014), 1305–1313.
35. 35 Kapoor, N.S., Curcio, L.D., Blakemore, C.A., et al. Multigene panel testing detects equal rates of pathogenic BRCA1/2 mutations and has a higher diagnostic yield compared to limited BRCA1/2 analysis alone in patients at risk for hereditary breast cancer. Ann Surg Oncol 22 (2015), 3282–3288.
36. 36 Desmond, A., Kurian, A.W., Gabree, M., et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol 1 (2015), 943–951.
37. 37 Gabai-Kapara, E., Lahad, A., Kaufman, B., et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A 111 (2014), 14205–14210.
38. 38 Couch, F.J., Hart, S.N., 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 33 (2015), 304–311.
39. 39 Tyrer, J., Duffy, S.W., Cuzick, J., A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23 (2004), 1111–1130.
40. 40 Canto, M.I., Harinck, F., Hruban, R.H., et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62 (2013), 339–347.
41. 41 Roberts, N.J., Jiao, Y., Yu, J., et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2 (2012), 41–46.
42. ®: gastric cancer. V 1.2016. NCCN Clinical Practice Guidelines in Oncology. Available at: https://www.nccn.org/store/login/login.aspx?ReturnURL=https://www.nccn.org/professionals/physician_gls/pdf/gastric.pdf.