The complex genetic landscape of familial breast cancer

Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008

2010 • 21,372 citations

Molecular portraits of human breast tumours

2000 • 15,445 citations

Comprehensive molecular portraits of human breast tumours

2012 • 10,753 citations

Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications

2001 • 10,602 citations

Gene expression profiling predicts clinical outcome of breast cancer

2002 • 9,314 citations

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

1994 • 5,994 citations

A microRNA expression signature of human solid tumors defines cancer gene targets

2006 • 5,638 citations

The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups

2012 • 5,361 citations

Repeated observation of breast tumor subtypes in independent gene expression data sets

2003 • 5,356 citations

MicroRNA Gene Expression Deregulation in Human Breast Cancer

2005 • 4,014 citations

Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

2003 • 3,497 citations

Immunohistochemical and Clinical Characterization of the Basal-Like Subtype of Invasive Breast Carcinoma

2004 • 2,644 citations

Genome-wide association study identifies novel breast cancer susceptibility loci

2007 • 2,342 citations

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

2011 • 2,254 citations

Localization of a Breast Cancer Susceptibility Gene, BRCA2 , to Chromosome 13q12-13

1994 • 1,884 citations

The clonal and mutational evolution spectrum of primary triple-negative breast cancers

2012 • 1,883 citations

Mutational Processes Molding the Genomes of 21 Breast Cancers

2012 • 1,839 citations

Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers

2009 • 1,390 citations

The Life History of 21 Breast Cancers

2012 • 1,380 citations

The molecular portraits of breast tumors are conserved across microarray platforms

2006 • 1,320 citations

Genomic and transcriptional aberrations linked to breast cancer pathophysiologies

2006 • 1,296 citations

BRCA1 and BRCA2: different roles in a common pathway of genome protection

2011 • 1,280 citations

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

2002 • 1,081 citations

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013 • 1,051 citations

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

2006 • 965 citations

Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer

2003 • 938 citations

MicroRNA expression profiling of human breast cancer identifies new markers of tumor subtype

2007 • 932 citations

Complex landscapes of somatic rearrangement in human breast cancer genomes

2009 • 828 citations

The Pathology of Familial Breast Cancer: Predictive Value of Immunohistochemical Markers Estrogen Receptor, Progesterone Receptor, HER-2, and p53 in Patients With Mutations in BRCA1 and BRCA2

2002 • 809 citations

Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization.

1994 • 748 citations

BRCA1 Basal-like Breast Cancers Originate from Luminal Epithelial Progenitors and Not from Basal Stem Cells

2010 • 735 citations

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

2010 • 707 citations

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

2006 • 699 citations

Estrogen receptor status in breast cancer is associated with remarkably distinct gene expression patterns.

2001 • 672 citations

Prediction of BRCA1 Status in Patients with Breast Cancer Using Estrogen Receptor and Basal Phenotype

2005 • 610 citations

A common coding variant in CASP8 is associated with breast cancer risk

2007 • 608 citations

Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families

2001 • 606 citations

Array comparative genomic hybridization and its applications in cancer

2005 • 583 citations

BRCA1 dysfunction in sporadic basal-like breast cancer

2006 • 566 citations

Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with BRCA1/2 Inactivation

2012 • 559 citations

Cancer Risks and Mortality in Heterozygous ATM Mutation Carriers

2005 • 518 citations

Distinct patterns of DNA copy number alteration are associated with different clinicopathological features and gene‐expression subtypes of breast cancer

2006 • 499 citations

Germline mutations in RAD51D confer susceptibility to ovarian cancer

2011 • 498 citations

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

2008 • 458 citations

EMSY Links the BRCA2 Pathway to Sporadic Breast and Ovarian Cancer

2003 • 416 citations

Estrogen receptor β

2002 • 385 citations

Stem cells and breast cancer: A field in transit

2003 • 370 citations

The Prognostic Implication of the Basal-Like (Cyclin Ehigh/p27low/p53+/Glomeruloid-Microvascular-Proliferation+) Phenotype of BRCA1 -Related Breast Cancer

2004 • 367 citations

Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations.

1997 • 362 citations

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair

2007 • 350 citations

Novel patterns of genome rearrangement and their association with survival in breast cancer

2006 • 319 citations

Breast tumor copy number aberration phenotypes and genomic instability

2006 • 291 citations

BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair

2010 • 282 citations

Molecular classification of breast carcinomas by comparative genomic hybridization: a specific somatic genetic profile for BRCA1 tumors.

2002 • 251 citations

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

2012 • 240 citations

Array Comparative Genomic Hybridization Analysis of Genomic Alterations in Breast Cancer Subtypes

2004 • 223 citations

Identification of Id4 as a regulator of BRCA1 expression by using a ribozyme-library-based inverse genomics approach

2001 • 222 citations

The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2.

2000 • 219 citations

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

2011 • 211 citations

RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability

2005 • 204 citations

Functions and regulation of the APOBEC family of proteins

2011 • 190 citations

Screening for germ line TP53 mutations in breast cancer patients.

1992 • 190 citations

Genomic subtypes of breast cancer identified by array-comparative genomic hybridization display distinct molecular and clinical characteristics

2010 • 188 citations

Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

2000 • 188 citations

Molecular classification of familial non- BRCA1/BRCA2 breast cancer

2003 • 183 citations

Immunohistochemical characteristics defined by tissue microarray of hereditary breast cancer not attributable to BRCA1 or BRCA2 mutations: differences from breast carcinomas arising in BRCA1 and BRCA2 mutation carriers.

2003 • 175 citations

Distinct Genomic Profiles in Hereditary Breast Tumors Identified by Array-Based Comparative Genomic Hybridization

2005 • 164 citations

Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers

2005 • 163 citations

High Incidence of Protein-Truncating TP53 Mutations in BRCA1-Related Breast Cancer

2009 • 159 citations

High Frequency of TP53 Mutation in BRCA1 and Sporadic Basal-like Carcinomas but not in BRCA1 Luminal Breast Tumors

2009 • 152 citations

BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping

2010 • 151 citations

Evolutionary Pathways in BRCA1-Associated Breast Tumors

2012 • 148 citations

Genomic profiling of breast tumours in relation to BRCAabnormalities and phenotypes

2009 • 146 citations

Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH

2008 • 137 citations

Comparative Genomic Hybridization Profiles in Human BRCA1 and BRCA2 Breast Tumors Highlight Differential Sets of Genomic Aberrations

2005 • 129 citations

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

2012 • 106 citations

Subtypes of familial breast tumours revealed by expression and copy number profiling

2009 • 99 citations

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

2013 • 96 citations

Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data

2006 • 96 citations

The Molecular Pathology of Hereditary Breast Cancer

2008 • 93 citations

Genetic Anticipation Is Associated with Telomere Shortening in Hereditary Breast Cancer

2011 • 90 citations

Distinct genomic aberration patterns are found in familial breast cancer associated with different immunohistochemical subtypes

2007 • 89 citations

Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness

2011 • 81 citations

Deregulated miRNAs in Hereditary Breast Cancer Revealed a Role for miR-30c in Regulating KRAS Oncogene

2012 • 78 citations

A Predictor Based on the Somatic Genomic Changes of the BRCA1/BRCA2 Breast Cancer Tumors Identifies the Non-BRCA1/BRCA2 Tumors with BRCA1 Promoter Hypermethylation

2005 • 77 citations

Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

2000 • 75 citations

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

2012 • 75 citations

Inherited Mutations in Breast Cancer Genes—Risk and Response

2011 • 73 citations

BRCA1 Localization to the Telomere and Its Loss from the Telomere in Response to DNA Damage

2009 • 70 citations

Gene expression profiling of formalin‐fixed, paraffin‐embedded familial breast tumours using the whole genome‐DASL assay

2010 • 69 citations

Amplification of the BRCA2 Pathway Gene EMSY in Sporadic Breast Cancer Is Related to Negative Outcome

2004 • 64 citations

A whole‐genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor‐negative and ‐positive breast cancers

2012 • 64 citations

Immunohistochemical Expression of DNA Repair Proteins in Familial Breast Cancer DifferentiateBRCA2-Associated Tumors

2005 • 63 citations

The current structural and functional understanding of APOBEC deaminases

2009 • 63 citations

Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors

2008 • 57 citations

An integrative hypothesis about the origin and development of sporadic and familial breast cancer subtypes

2008 • 56 citations

Novel indications forBRCA1 screening using individual clinical and morphological features

1999 • 55 citations

Genomic signature of BRCA1 deficiency in sporadic basal‐like breast tumors

2010 • 54 citations

Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH

2010 • 52 citations

Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families

2007 • 50 citations

Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases

2012 • 48 citations

A study of the PTEN/MMAC1 gene in 136 breast cancer families.

1998 • 45 citations

The Retinoblastoma Gene Undergoes Rearrangements in BRCA1-Deficient Basal-like Breast Cancer

2012 • 45 citations

Morphology of Breast Cancer as a Means of Triage of Patients for BRCA1 Genetic Testing

2006 • 44 citations

Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer

2007 • 36 citations

Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization

2004 • 35 citations

Integration of BRCA1-mediated miRNA and mRNA profiles reveals microRNA regulation of TRAF2 and NFκB pathway

2011 • 35 citations

Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumors

2009 • 33 citations

Phenotype-Genotype Correlation in Familial Breast Cancer

2011 • 32 citations

Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci

2009 • 32 citations

Characterization of Familial Non-BRCA1/2Breast Tumors by Loss of Heterozygosity and Immunophenotyping

2006 • 29 citations

Peutz–Jeghers syndrome: genetic screening

2003 • 18 citations

A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients

2011 • 18 citations

CGH analysis of familial non-BRCA1/BRCA2 breast tumors and mutation screening of a candidate locus on chromosome 17q11.2-12

2005 • 16 citations

Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis

2009 • 15 citations

CK8/18 expression, the basal phenotype, and family history in identifying BRCA1‐associated breast cancer in the Ontario site of the Breast Cancer Family Registry

2010 • 15 citations

Transcriptional characteristics of familial non‐BRCA1/BRCA2 breast tumors

2010 • 11 citations

Histopathological features of ‘BRCAX’ familial breast cancers in the kConFab resource

2008 • 9 citations

Familial concordance of breast cancer pathology as an indicator of genotype in multiple‐case families

2010 • 6 citations

Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres

2012 • 6 citations