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, Angelo; De Bonis, Maria; De Paolis, Elisa; Gentile, Leonarda; Santonocito, Concetta; Concolino, Paola; Mignone, Flavio; Capoluongo, Ettore

Minucci, Angelo; De Bonis, Maria; De Paolis, Elisa; Gentile, Leonarda; Santonocito, Concetta; Concolino, Paola; Mignone, Flavio; Capoluongo, Ettore.

Affiliation

Minucci A; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy. angelo.minucci@virgilio.it.
De Bonis M; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.
De Paolis E; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.
Gentile L; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.
Santonocito C; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.
Concolino P; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.
Mignone F; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy.
Capoluongo E; Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital 'Agostino Gemelli' Foundation, Rome, Italy. ettoredomenico.capoluongo@unicatt.it.

Mol Diagn Ther ; 21(2): 217-223, 2017 04.

Article in En | MEDLINE | ID: mdl-28161869

Subject(s)

Founder Effect; Genetic Testing; Germ-Line Mutation; Nucleic Acid Amplification Techniques; Sequence Deletion; Alleles; BRCA1 Protein/genetics; Female; Genetic Testing/methods; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis; Hereditary Breast and Ovarian Cancer Syndrome/genetics; Heterozygote; Humans; Italy; Reproducibility of Results; Sensitivity and Specificity

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Sequence Deletion / Germ-Line Mutation / Founder Effect / Nucleic Acid Amplification Techniques Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans Country/Region as subject: Europa Language: En Journal: Mol Diagn Ther Journal subject: BIOLOGIA MOLECULAR / FARMACOLOGIA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2017 Type: Article Affiliation country: Italy

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