Associated Papers
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
Lavoro A et al.
International Journal of Oncology, 2022
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer.
Zhang J et al.
Breast Cancer Research and Treatment, 2016
High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.
Konstantopoulou I et al.
Clinical Genetics, 2014
Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
Rath MG et al.
Breast Cancer Research and Treatment, 2012
Earlier age of onset of BRCA mutation-related cancers in subsequent generations.
Litton JK et al.
Cancer, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.
Loughrey M et al.
Pathology, 2008
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.
Peixoto A et al.
Familial Cancer, 2006
Cancer variation associated with the position of the mutation in the BRCA2 gene.
Lubinski J et al.
Familial Cancer, 2004
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
Offit K et al.
Journal of the National Cancer Institute, 2003
Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.
Satagopan JM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2002
A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families.
Phelan CM et al.
Human Mutation, 2002
Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families.
Kauff ND et al.
Journal of Medical Genetics, 2002
New BRCA2 mutation in an Ashkenazi Jewish family with breast and ovarian cancer.
Robson ME et al.
Lancet (london, England), 1997