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 - 2015
Thaddeus Judkins1, Benoît Leclair1, Karla R. Bowles1, Natalia Gutin1, Jeff Trost1, James McCulloch1, S. K. Bhatnagar2, Adam Murray1, Jonathan Craft1, Bryan Wardell2, Mark Bastian2, Jeffrey T. Mitchell2, Jian Chen2, Thanh V. Tran2, D. R. Williams2, Jennifer Potter2, Srikanth Jammulapati2, M. D. Perry2, Brian J. Morris2, Benjamin B. Roa1, Kirsten M. Timms2
1Myriad Genetic Laboratories, Inc., Salt Lake City, Utah, USA
2Myriad Genetics, Inc., Salt Lake City, Utah, USA

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What are the survival rates for melanoma skin cancer by stage? [http://www.cancer.org/cancer/skincancer-melanoma/detailedguide/melanoma-skin-cancer-survival-rates].

Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005;104(12):2807–16.

Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, et al. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol. 2011;121(2):353–7.

Balmana J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006;296(12):1469–78.

Klee EW, Hoppman-Chaney NL, Ferber MJ. Expanding DNA diagnostic panel testing: is more better? Expert Rev Mol Diagn. 2011;11(7):703–9.

Castera L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, 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.

Molecular Pathology Checklist: CAP Accreditation Program. [http://www.cap.org/apps/cap.portal?_nfpb=true&_pageLabel=accreditation]

Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013;15(9):733–47.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, 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.

Kazazian H, Boehm C, Seltzer W. ACMG recommendations for standards for interpretation of sequence variations. Genet Med. 2000;2(5):302–3.

Harland M, Holland EA, Ghiorzo P, Mantelli M, Bianchi-Scarra G, Goldstein AM, et al. Mutation screening of the CDKN2A promoter in melanoma families. Genes Chromosomes Cancer. 2000;28(1):45–57.

Hitchins MP, Rapkins RW, Kwok CT, Srivastava S, Wong JJ, Khachigian LM, et al. Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. Cancer Cell. 2011;20(2):200–13.

Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014;12(9):1339–46.

Hiraki S, Rinella ES, Schnabel F, Oratz R, Ostrer H. Cancer risk assessment using genetic panel testing: considerations for clinical application. J Genet Couns. 2014;23(4):604–17.

Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32(19):2001–9.

Peixoto A, Santos C, Pinto P, Pinheiro M, Rocha P, Pinto C, et al. The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. Clin Genet. 2014;doi 10.1111/cge.12441 [Epub ahead of print].

Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(44):18032–7.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A. 2010;107(28):12629–33.