Patients and methods: Using a screening assay based on a combination of single-strand conformation polymorphism, denaturing high-performance liquid chromatography and sequence analysis, 47 Sardinian families with three or more BC cases were screened for germline mutations in BRCA1 and BRCA2 genes.

Background: The Sardinian population is genetically homogeneous and could be useful in understanding better the genetics of a complex disease like breast cancer (BC).

BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling

Palmieri G;Palomba G;Pisano M;
2002

Abstract

Background: The Sardinian population is genetically homogeneous and could be useful in understanding better the genetics of a complex disease like breast cancer (BC).
2002
Istituto di Chimica Biomolecolare - ICB - Sede Pozzuoli
GENETICA DELLE POPOLAZIONI
Dipartimento di Scienze Chimiche e Tecnologie dei Materiali - DSCTM
Patients and methods: Using a screening assay based on a combination of single-strand conformation polymorphism, denaturing high-performance liquid chromatography and sequence analysis, 47 Sardinian families with three or more BC cases were screened for germline mutations in BRCA1 and BRCA2 genes.
BRCA1/2 genes
Breast cancer
Genetic counselling
Genetically homogeneous population
Germline mutation
Polymerase chain reaction-based screening
BRCA1/2 genes
breast cancer
genetic counseling
genetically homogeneous population
germline mutation
polymerase chain reaction-based screening
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/37779
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