User profiles for "author:Csilla Szabo"

Csilla Szabo

National Human Genome Research Institute
Verified email at mail.nih.gov
Cited by 12443

Inherited breast and ovarian cancer

CI Szabo, MC King - Human molecular genetics, 1995 - academic.oup.com
An estimated 5 to 10% of all breast and ovarian cancer is attributable to inherited mutations
in two highly penetrant autosomal dominant susceptibility genes, BRCA1 and BRCA2 …

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

LS Friedman, EA Ostermeyer, CI Szabo, P Dowd… - Nature …, 1994 - nature.com
We provide genetic evidence supporting the identity of the candidate gene for BRCA1
through the characterization of germline mutations in 63 breast cancer patients and 10 …

Population genetics of BRCA1 and BRCA2.

CI Szabo, MC King - American journal of human genetics, 1997 - ncbi.nlm.nih.gov
In 1992, the Musee de L'Homme in Paris presented a natural history exhibit entitled" Tous
Parents, Tous Dif-ferents," a beautiful scientific and artistic exploration of human evolution …

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 …

N Mavaddat, D Barrowdale, IL Andrulis… - … Biomarkers & Prevention, 2012 - AACR
Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors
differ in their pathology. Analysis of larger datasets of mutation carriers should allow further …

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general …

AC Antoniou, X Wang, ZS Fredericksen, L McGuffog… - Nature …, 2010 - nature.com
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening

D Shattuck-Eidens, M McClure, J Simard, F Labrie… - Jama, 1995 - jamanetwork.com
Objectives.—To report the initial experience of an international group of investigators in
identifying mutations in theBRCA1breast and ovarian cancer susceptibility gene, to assess …

Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.

TM Smith, MK Lee, CI Szabo, N Jerome… - Genome …, 1996 - genome.cshlp.org
Over 100 distinct disease-associated mutations have been identified in the breast-ovarian
cancer susceptibility gene BRCA1. Loss of the wild-type allele in> 90% of tumors from …

Growth retardation and tumour inhibition by BRCA1

JT Holt, ME Thompson, C Szabo, C Robinson-Benion… - Nature …, 1996 - nature.com
Inherited mutations in BRCA1 predispose to breast and ovarian cancer, but the role of
BRCA1 in sporadic breast and ovarian cancer has previously been elusive. Here, we show …

[PDF][PDF] Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

AC Antoniou, AB Spurdle, OM Sinilnikova… - The American Journal of …, 2008 - cell.com
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However,
evidence suggests that these risks are modified by other genetic or environmental factors …

[HTML][HTML] Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

FJ Couch, X Wang, L McGuffog, A Lee, C Olswold… - PLoS …, 2013 - journals.plos.org
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic
variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of …