S. Gayther

Publications415
h-index71
Citations20,825
Highly Influential Citations613
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Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer.
TLDR
It is found that the age-PCGT methylation signature is present in preneoplastic conditions and may drive gene expression changes associated with carcinogenesis in normal and cancer solid tissues and a population of bone marrow mesenchymal stem/stromal cells.
Association between endometriosis and risk of histological subtypes of ovarian cancer: a pooled analysis of case–control studies
Familial gastric cancer: overview and guidelines for management*
TLDR
A group of geneticists, gastroenterologists, surgeons, oncologists, pathologists, and molecular biologists gathered to produce consensus statements and guidelines for familial gastric cancer confirmed that the gastric cancers were all of the diffuse type.
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene
TLDR
Analysis of the mutation distribution along the length of the gene indicates a significant genotype-phenotype correlation and truncating mutations in families with the highest risk of ovarian cancer relative to breast cancer are clustered in a region of approximately 3.3 kb in exon 11.
Multiple loci with different cancer specificities within the 8q24 gene desert.
TLDR
It is concluded that there are at least five separate functional variants in this region that are associated with the risk of prostate, colorectal, and ovarian cancer, but not breast cancer.
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
TLDR
Pathologic characteristics of BRCA1 and BRCa2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis.
An Epigenetic Signature in Peripheral Blood Predicts Active Ovarian Cancer
TLDR
The results underscore the potential of DNAm profiling in peripheral blood as a tool for detection or risk-prediction of epithelial cancers, and warrants further in-depth and higher CpG coverage studies to further elucidate this role.
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
TLDR
Among patients with invasive EOC, having a germline mutation in BRCA1 or BRC a2 was associated with improved 5-year overall survival and BRCa2 carriers had the best prognosis.
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation
TLDR
Analysis of families with a history of breast and/or ovarian cancer for germline mutations in BRCA1 suggests a transition in risk such that mutations in the 3′ third of the gene are associated with a lower proportion of ovarian cancer.
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 population
TLDR
Five SNPs on 19p13 were associated with breast cancer risk and an association with estrogen receptor–positive disease in the opposite direction was identified andotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association.
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