• Publications
  • Influence
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.
TLDR
Risks in carriers were higher when based on index breast cancer cases diagnosed at <35 years of age and for variation in risk by mutation position for both genes, and some evidence for a reduction in risk in women from earlier birth cohorts is found.
Genome-wide association study identifies novel breast cancer susceptibility loci
TLDR
To identify further susceptibility alleles, a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls was conducted, followed by a third stage in which 30 single nucleotide polymorphisms were tested for confirmation.
The clonal and mutational evolution spectrum of primary triple-negative breast cancers
TLDR
It is shown that understanding the biology and therapeutic responses of patients with TNBC will require the determination of individual tumour clonal genotypes, and for the first time in an epithelial tumour subtype, the relative abundance of clonal frequencies among cases representative of the population is determined.
The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes
TLDR
This study sequence 173 genes in 2,433 primary breast tumours that have copy number aberration, gene expression and long-term clinical follow-up data, and determines associations between mutations, driver CNA profiles, clinical-pathological parameters and survival.
Subtyping of Breast Cancer by Immunohistochemistry to Investigate a Relationship between Subtype and Short and Long Term Survival: A Collaborative Analysis of Data for 10,159 Cases from 12 Studies
Paul Pharoah and colleagues evaluate the prognostic significance of immunohistochemical subtype classification in more than 10,000 breast cancer cases with early disease, and examine the influence of
Family history and the risk of breast cancer: A systematic review and meta‐analysis
TLDR
The aim of this study was to identify all the published studies which have quantified the risk of breast cancer associated with a family history of the disease, and to summarise the evidence, with particular emphasis on age‐specific risks according to subject and relative age.
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
TLDR
Findings extend the understanding of the role of common genetic variation in CRC etiology by identifying a previously unreported association, rs3802842 on 11q23, and carrying all six possible risk alleles yielded OR = 2.6 (95% CI = 1.75–3.89) for CRC.
Genome-wide association study identifies five new breast cancer susceptibility loci
TLDR
Previously identified breast cancer susceptibility loci were found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
TLDR
HGC syndrome may be best defined by mutations in CDH1 and closely related genes, rather than through clinical criteria that capture families with heterogeneous susceptibility profiles, providing more precise estimates of age-associated risks of gastric and breast cancer that will improve counseling of unaffected carriers.
p53 polymorphisms: cancer implications
TLDR
Polymorphic variants of other genes in the p53 pathway, such as MDM2, which might have biological consequences either individually or in combination with p53 variants are discussed.
...
1
2
3
4
5
...