Associated Papers
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non-carriers: results from a rapid autopsy programme.
Thorne H et al.
Histopathology, 2023
Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
Prakash R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Somatic DNA Damage Response and Homologous Repair Gene Alterations and Its Association With Tumor Variant Burden in Breast Cancer Patients With Occupational Exposure to Pesticides.
Scandolara TB et al.
Frontiers in Oncology, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Arai M et al.
Journal of Human Genetics, 2018
Familial breast cancer genetic testing in the West of Ireland.
McVeigh TP et al.
Irish Journal of Medical Science, 2014
Absence of BRCA/FMR1 correlations in women with ovarian cancers.
Gleicher N et al.
Plos One, 2014
BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
Solano AR et al.
Springerplus, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.
Turkovic L et al.
Bmc Cancer, 2010
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
Uptake of clinical genetic testing for ovarian cancer in Ontario: a population-based study.
Metcalfe KA et al.
Gynecologic Oncology, 2009
Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.
Loughrey M et al.
Pathology, 2008
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.
Risch HA et al.
Journal of the National Cancer Institute, 2006
Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes.
Naseem H et al.
Clinical Genetics, 2006
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH et al.
Human Mutation, 2006
A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene.
Kuperstein G et al.
Genetic Testing, 2006
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
Meyer P et al.
Human Mutation, 2003
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.
Eng C et al.
Journal of Medical Genetics, 2001
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.
Risch HA et al.
American Journal of Human Genetics, 2001
Evidence of a founder BRCA1 mutation in Scotland.
Liede A et al.
British Journal of Cancer, 2000