Capoluongo E - Search Results

1

A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.

Scaglione GL, Concolino P, De Bonis M, De Paolis E, Minucci A, Ferrandina G, Scambia G, Capoluongo E. Scaglione GL, et al. Among authors: capoluongo e. Int J Mol Sci. 2018 Mar 23;19(4):961. doi: 10.3390/ijms19040961. Int J Mol Sci. 2018. PMID: 29570666 Free PMC article.

2

High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

Minucci A, De Bonis M, De Paolis E, Gentile L, Santonocito C, Concolino P, Mignone F, Capoluongo E. Minucci A, et al. Among authors: capoluongo e. Mol Diagn Ther. 2017 Apr;21(2):217-223. doi: 10.1007/s40291-017-0262-3. Mol Diagn Ther. 2017. PMID: 28161869

3

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

Concolino P, Rizza R, Hackmann K, Minucci A, Scaglione GL, De Bonis M, Costella A, Zuppi C, Schrock E, Capoluongo E. Concolino P, et al. Among authors: capoluongo e. Mol Diagn Ther. 2017 Oct;21(5):539-545. doi: 10.1007/s40291-017-0288-6. Mol Diagn Ther. 2017. PMID: 28620890

4

Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.

Santonocito C, Scapaticci M, Guarino D, Bartolini A, Minucci A, Concolino P, Scambia G, Paris I, Capoluongo E. Santonocito C, et al. Among authors: capoluongo e. Breast. 2017 Dec;36:74-78. doi: 10.1016/j.breast.2017.09.007. Epub 2017 Oct 8. Breast. 2017. PMID: 29020660

5

Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.

De Bonis M, Minucci A, Scaglione GL, De Paolis E, Zannoni G, Scambia G, Capoluongo E. De Bonis M, et al. Among authors: capoluongo e. Fam Cancer. 2019 Jan;18(1):29-35. doi: 10.1007/s10689-018-0094-2. Fam Cancer. 2019. PMID: 29934687

6

BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E. Concolino P, et al. Among authors: capoluongo e. Int J Mol Sci. 2019 Jul 12;20(14):3442. doi: 10.3390/ijms20143442. Int J Mol Sci. 2019. PMID: 31336956 Free PMC article.

7

Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.

Minucci A, Mazzuccato G, D'Indinosante M, Di Nardo L, Concolino P, De Bonis M, Urbani A, Scambia G, Fagotti A, Capoluongo E. Minucci A, et al. Among authors: capoluongo e. Mol Biol Rep. 2020 Feb;47(2):1513-1520. doi: 10.1007/s11033-019-05199-3. Epub 2019 Dec 12. Mol Biol Rep. 2020. PMID: 31833030

8

High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment.

Mazzuccato G, De Bonis M, Carboni V, Marchetti C, Urbani A, Scambia G, Capoluongo E, Fagotti A, Minucci A. Mazzuccato G, et al. Among authors: capoluongo e. Mol Biol Rep. 2020 Jun;47(6):4897-4903. doi: 10.1007/s11033-020-05504-5. Epub 2020 May 28. Mol Biol Rep. 2020. PMID: 32468256

9

Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing.

De Paolis E, De Bonis M, Concolino P, Piermattei A, Fagotti A, Urbani A, Scambia G, Minucci A, Capoluongo E. De Paolis E, et al. Among authors: capoluongo e. Clin Chim Acta. 2021 Feb;513:17-24. doi: 10.1016/j.cca.2020.12.001. Epub 2020 Dec 7. Clin Chim Acta. 2021. PMID: 33301768

10

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.

Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P. Rizza R, et al. Among authors: capoluongo e. Mol Diagn Ther. 2019 Feb;23(1):121-126. doi: 10.1007/s40291-018-0376-2. Mol Diagn Ther. 2019. PMID: 30506513

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