Advanced tools for BRCA1/2 mutational screening: Comparison between two methods for large genomic rearrangements (LGRs) detection

Clinical Chemistry and Laboratory Medicine

Volumn 52, Issue 8, 2014, Pages 1119-1127

  Concolino, Paola ^a   Mello, Enrica ^a   Minucci, Angelo ^a   Santonocito, Concetta ^a   Scambia, Giovanni ^a   Giardina, Bruno ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

BRCA1; BRCA2; large genomic rearrangements (LGRs); multiplex amplicon quantification (MAQ); multiplex ligation dependent probe amplification (MLPA)

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AMPLICON; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; INTERMETHOD COMPARISON; LARGE GENOMIC REARRANGEMENT; MALE; MIDDLE AGED; MULTIPLEX AMPLICON QUANTIFICATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; BREAST TUMOR; EARLY DIAGNOSIS; GENETICS; GENOMICS; MUTATION; OVARY TUMOR; PHYSIOLOGY; TUMOR SUPPRESSOR GENE;

ADULT; BREAST NEOPLASMS; EARLY DETECTION OF CANCER; FEMALE; GENE REARRANGEMENT; GENES, BRCA1; GENOMICS; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS;

EID: 84901357886     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm-2013-1114     Document Type: Article

References (18)

1. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science New York, NY 1994;266;5182:66-71.
2. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378:789-92.
3. Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, et al. Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer. Cancer 2012;118:2787-95.
4. Available from: Breast Cancer Information Core, National Human Genome Research Institute, BIC Database http://research.nhgri. nih.gov/bic/. Accessed 10 November, 2013.
5. Sluiter MD, van Rensburg EJ. Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res Treat 2011;125:325-49.
6. Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 1996;6:1029-49.
7. Armour JA, Barton DE, Cockburn DJ, Taylor GR. The detection of large deletions or duplications in genomic DNA. Human Mutat 2012;20:325-37.
8. Concolino P, Mello E, Toscano V, Ameglio F, Zuppi C, Capoluongo E. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. Clin Chim Acta 2009;402:164-70.
9. Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simonds J, et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 2004;91:1155-9.
10. Hartmann C, John AL, Klaes R, Hofmann W, Bielen R, Koehler R, et al. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 2004;24:534-41.
11. Montagna M, Palma MD, Menin C, Agata S, De Nicolo A, Chieco-Bianchi L, et al. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 2003;12:1055-61.
12. Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, et al. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet 2013;21:864-70.
13. Veschi S, Aceto G, Scioletti AP, Gatta V, Palka G, Cama A, et al. High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. Ann Oncol 2007;18(Suppl 6):vi86-92.
14. Puget N, Gad S, Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, et al. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 2002;70:858-65.
15. Vasickova P, Machackova E, Lukesova M, Damborsky J, Horky O, Pavlu H, et al. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med Genet 2007;8:32.
16. Preisler-Adams S, Schönbuchner I, Fiebig B, Welling B, Dworniczak B, Weber BH. Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genet Cytogenet 2006;168:44-9.
17. Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pagés S, Lynch HT, et al. An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 1999;64:300-2.
18. Hansen TV, Jønson L, Albrechtsen A, Andersen MK, Ejlertsen B, Nielsen FC. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families. Breast Cancer Res Treat 2009;115:315-23.