Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel

Cancer Genetics

Volumn 211, Issue , 2017, Pages 5-8

  Coffee, Bradford ^a   Cox, Hannah C ^a   Kidd, John ^a   Sizemore, Scott ^a   Brown, Krystal ^a   Manley, Susan ^a   Mancini DiNardo, Debora ^a  

^a Utah   (United States)

Author keywords

ATM; cancer; CHEK2; next generation sequencing; somatic variants; TP53

Indexed keywords

ADULT; AGED; APC GENE; ARTICLE; ATM GENE; BRCA2 GENE; CDH1 GENE; CHEK2 GENE; GENETIC SCREENING; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MIDDLE AGED; MSH6 GENE; NBN GENE; NEXT GENERATION SEQUENCING; ONCOGENE; PALB2 GENE; PATHOGENICITY; PERIPHERAL LYMPHOCYTE; PMS2 GENE; STK11 GENE; TP53 GENE; TUMOR SUPPRESSOR GENE; BLOOD; CHEMISTRY; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; LYMPHOCYTE; METABOLISM; NEOPLASM; PHYSIOLOGY; PROCEDURES;

GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LYMPHOCYTES; NEOPLASMS;

EID: 85014515062     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2017.01.002     Document Type: Article

References (15)

1. 1 Easton, D.F., Pharoah, P.D., Antoniou, A.C., et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372 (2015), 2243–2257.
2. 2 Malcikova, J., Smardova, J., Rocnova, L., et al. Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage. Blood 114 (2009), 5307–5314.
3. 3 Welch, J.S., Ley, T.J., Link, D.C., et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 150 (2012), 264–278.
4. 4 Genovese, G., Kahler, A.K., Handsaker, R.E., et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 371 (2014), 2477–2487.
5. 5 Wong, T.N., Ramsingh, G., Young, A.L., et al. Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia. Nature 518 (2015), 552–555.
6. 6 Jaiswal, S., Fontanillas, P., Flannick, J., et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 371 (2014), 2488–2498.
7. 7 Xie, M., Lu, C., Wang, J., et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med 20 (2014), 1472–1478.
8. 8 Daly, M., Pilarski, R., Axilbund, J.E., et al. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2016. NCCN Clinical Practice Guidelines in Oncology [Internet]. 2016 March 3; Available at http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf, 2016.
9. 9 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.
10. 10 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.
11. 11 Saam, J., Arnell, C., Theisen, A., et al. Patients tested at a laboratory for hereditary cancer syndromes show an overlap for multiple syndromes in their personal and familial cancer histories. Oncology 89 (2015), 288–293.
12. 12 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 121 (2015), 25–33.
13. 13 Tung, N., Lin, N.U., Kidd, J., et al. Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 34 (2016), 1460–1468.
14. 14 Yurgelun, M.B., Allen, B., Kaldate, R.R., et al. Identification of a variety of mutations in cancer predisposition genes in patients with suspected lynch syndrome. Gastroenterology 149 (2015), 604–613.
15. 15 Kaufman, E., Lamster, I.B., The diagnostic applications of saliva—a review. Crit Rev Oral Biol Med 13 (2002), 197–212.