Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: The experience at Gemelli hospital and a literature review

Expert Review of Molecular Diagnostics

Volumn 15, Issue 10, 2015, Pages 1383-1403

  Minucci, Angelo ^a   Scambia, Giovanni ^a   Santonocito, Concetta ^a   Concolino, Paola ^a   Canu, Giulia ^a   Mignone, Flavio ^b   Saggese, Igor ^b   Guarino, Donatella ^a   Costella, Alessandra ^a   Molinario, Rossana ^a   De Bonis, Maria ^a   Ferrandina, Gabriella ^a   Petrillo, Marco ^a   Scaglione, Giovanni Luca ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

bioinformatics NGS analysis; BRCA1 2 genes; hereditary breast and ovarian cancer syndrome; massive parallel sequencing; next generation sequencing

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ARTICLE; CANCER PATIENT; DNA FLANKING REGION; FEMALE; GENE SEQUENCE; GENETIC COUNSELING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MASSIVE PARALLEL SEQUENCING; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; NEXT GENERATION SEQUENCING; OVARY CANCER; PYROSEQUENCING; QUALITY CONTROL; SENSITIVITY AND SPECIFICITY; TUMOR SUPPRESSOR GENE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; HOSPITAL; OVARIAN NEOPLASMS;

DNA MUTATIONAL ANALYSIS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOSPITALS; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; OVARIAN NEOPLASMS;

EID: 84942294651     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2015.1081059     Document Type: Article

References (44)

1. Anand P, Kunnumakkara AB, Sundaram C, et al. Cancer is a preventable disease that requires major lifestyle changes. Pharm Res 2008; 25 (9): 2097-116
2. Gage M, Wattendorf D, Henry LR. Translational advances regarding hereditary breast cancer syndromes. J Surg Oncol 2012; 105 (5): 444-51
3. 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): 66-71
4. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378 (6559): 789-92
5. Marsh DJ, Howell VM. The use of denaturing high performance liquid chromatography (DHPLC) for mutation scanning of hereditary cancer genes. Methods Mol Biol 2010; 653: 133-45
6. Kwong A, Ng EK, Wong CL, et al. Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. PLoS One 2012; 7 (9): e43994
7. Houdayer C, Moncoutier V, Champ J, et al. Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2. Methods Mol Biol 2010; 653: 147-80
8. Casilli F, Tournier I, Sinilnikova OM, et al. The contribution of germline rearrangements to the spectrum of BRCA2 mutations. J Med Genet 2006; 43 (9): e49
9. Concolino P, Mello E, Minucci A, et al. Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection. Clin Chem Lab Med 2014; 52 (8): 1119-27
10. Margulies M, Egholm M, Altman WE, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005; 437 (7057): 376-80
11. Chan M, Ji SM, Yeo ZX, et al. Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform. J Mol Diagnostics: JMD 2012; 14 (6): 602-12
12. Balabanski L, Antov G, Dimova I, et al. Next-generation sequencing of and in breast cancer patients and control subjects. Molecular and clinical oncology 2014; 2 (3): 435-9
13. Ruiz A, Llort G, Yague C, et al. Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing. BioMed Res Int 2014; 2014: 542541
14. Concolino P, Costella A, Minucci A, et al. A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations. Clin Chim Acta 2014; 437: 72-7
15. Feliubadalò L, Lopez-Doriga A, Castellsague E, et al. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. European journal of human genetics: EJHG 2013; 21 (8): 864-70
16. Engert S, Wappenschmidt B, Betz B, et al. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. Hum Mutat 2008; 29 (7): 948-58
17. 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 (2): 325-49
18. Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2015; 15 (9): 733-47
19. Hehir-Kwa JY, Claustres M, Hastings RJ, et al. Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur J Hum Genet: EJHG 2015. [Epub ahead of print]
20. Walsh T, Lee MK, Casadei S, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 2010; 107 (28): 12629-33
21. De Leeneer K, Hellemans J, De Schrijver J, et al. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat 2011; 32 (3): 335-44
22. Michils G, Hollants S, Dehaspe L, et al. Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagnostics: JMD 2012; 14 (6): 623-30
23. Ozcelik H, Shi X, Chang MC, et al. Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. J Mol Diagnostics: JMD 2012; 14 (5): 467-75
24. Hernan I, Borras E, de Sousa Dias M, et al. Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing. J Mol Diagn: JMD 2012; 14 (3): 286-93
25. Bosdet IE, Docking TR, Butterfield YS, et al. A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations. J Mol Diagn: JMD 2013; 15 (6): 796-809
26. Tarabeux J, Zeitouni B, Moncoutier V, et al. Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model. Eur J Hum Genet: EJHG 2014; 22 (4): 535-41
27. Hirotsu Y, Nakagomi H, Sakamoto I, et al. Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. Mol Genet Genomic Med 2015; 3 (2): 121-9
28. Trujillano D, Weiss ME, Schneider J, et al. Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. J Mol Diagnost: JMD 2015; 17 (2): 162-70
29. Costa JL, Sousa S, Justino A, et al. Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting. Hum Mutat 2013; 34 (4): 629-35
30. 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
31. 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: EJHG 2014; 22 (11): 1305-13
32. Ledermann J, Harter P, Gourley C, et al. Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol 2014; 15 (8): 852-61
33. Rebbeck TR, Mitra N, Wan F, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 2015; 313 (13): 1347-61
34. van Dijk EL, Auger H, Jaszczyszyn Y, Thermes C. Ten years of next-generation sequencing technology. Trends in genetics: TIG 2014; 30 (9): 418-26
35. Bayraktar S, Jackson M, Gutierrez-Barrera AM, et al. Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers. Breast J 2015; 21 (3): 260-7
36. Zhang J, Fackenthal JD, Zheng Y, et al. Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry. Breast Cancer Res Treat 2012; 134 (2): 889-94
37. Kluska A, Balabas A, Paziewska A, et al. New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. BMC Med Genomics 2015; 8: 19
38. D'Argenio V, Esposito MV, Telese A, et al. The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches. Clin Chim Acta 2015; 446: 221-5
39. Dacheva D, Dodova R, Popov I, et al. Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing. Mol Diagn Ther 2015 (2): 119-30
40. Wong-Brown MW, Meldrum CJ, Carpenter JE, et al. Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. Breast Cancer Res Treat 2015; 150: 71-80
41. Hernan I, Mañé B, Borrás E, et al. Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer. Clin Transl Oncol 2015 (7): 576-80
42. Ratajska M, Krygier M, Stukan M, et al. Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing. J Appl Genet 2015; 56: 193-8
43. Guan Y, Hu H, Peng Y, et al. Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing. G Fam Cancer 2015; 14: 9-18
44. 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