Associated Papers
The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.
Aretini P et al.
International Journal of Molecular Sciences, 2023
CLINICAL SIGNIFICANCE OF BRCA1 GENE SEQUENCING AND ITS PROMOTER METHYLATION TESTING IN THE SEARCH STRATEGY FOR THERAPEUTIC TARGETS IN BREAST CANCER TREATMENT.
Fishchuk L et al.
Experimental Oncology, 2023
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.
Incorvaia L et al.
Cancers, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia.
Briceño-Balcázar I et al.
Colombia Medica (cali, Colombia), 2017
The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.
Dutil J et al.
Breast Cancer Research and Treatment, 2015
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
Effect of BRCA1 and XPG mutations on treatment response to trabectedin and pegylated liposomal doxorubicin in patients with advanced ovarian cancer: exploratory analysis of the phase 3 OVA-301 study.
Monk BJ et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
Silva FC et al.
Bmc Medical Genetics, 2014
Do BRCA1/2 mutations and low FMR1 alleles interact or not?
Gleicher N et al.
European Journal of Human Genetics : Ejhg, 2014
Inherited and acquired alterations in development of breast cancer.
Rizzolo P et al.
The Application of Clinical Genetics, 2011
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis.
Fernández-Ramires R et al.
British Journal of Cancer, 2009
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.
Papi L et al.
Breast Cancer Research and Treatment, 2009
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.
Palomba G et al.
Bmc Cancer, 2009
Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis.
Marroni F et al.
Annals of Human Genetics, 2008
BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.
Russo A et al.
Breast Cancer Research and Treatment, 2007
Founder mutations in BRCA1 and BRCA2 genes.
Ferla R et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007
4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).
Russo A et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007
Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.
Giannini G et al.
Breast Cancer Research and Treatment, 2006
BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.
Capalbo C et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2006
Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis.
Wu JY et al.
International Journal of Cancer, 2006
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy.
Tommasi S et al.
Mutation Research, 2005
Structural factors determining DNA length limitations in conformation-sensitive mutation detection methods.
Kozlowski P et al.
Electrophoresis, 2005
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.
Marroni F et al.
European Journal of Human Genetics : Ejhg, 2004
Genetic alterations in hereditary breast cancer.
Cipollini G et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2004
p53 inactivation is a rare event in familial breast tumors negative for BRCA1 and BRCA2 mutations.
Sensi E et al.
Breast Cancer Research and Treatment, 2003
Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.
Aretini P et al.
Breast Cancer Research and Treatment, 2003
BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy.
Stuppia L et al.
Human Mutation, 2003
BRCA mutations in Italian breast/ovarian cancer families.
Nedelcu R et al.
European Journal of Human Genetics : Ejhg, 2002
Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.
Casadei S et al.
British Journal of Cancer, 2001
Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer.
Santarosa M et al.
International Journal of Cancer, 1998
BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations.
Caligo MA et al.
Oncogene, 1996
Molecular profile and clinical variables in BRCA1-positive breast cancers. A population-based study.
Musolino A et al.
Tumori, 0