-
Article
Open AccessMale with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype.
-
Article
Open AccessThe clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes an...
-
Article
Open AccessExploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study
The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a r...
-
Article
Open AccessOvarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics a...
-
Article
Open AccessCopy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
The contribution of germline copy number variants (CNVs) to risk of develo** cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analys...
-
Article
Open AccessAuthor Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target
-
Article
Open AccessBreast cancer risks associated with missense variants in breast cancer susceptibility genes
Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain.
-
Article
Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study
This study aimed to describe the acceptability and perceived barriers and enablers to establish a national registry targeting carriers of pathogenic variants in cancer susceptibility genes from stakeholders’ p...
-
Article
Open AccessValue of the loss of heterozygosity to BRCA1 variant classification
At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging. As a typical t...
-
Article
Open AccessMulti-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility
Genome-wide association studies (GWAS) have revealed sixteen risk loci for endoemtrial cancer but the identification of candidate susceptibility genes remains challenging. Here, we perform transcriptome-wide a...
-
Article
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus
Endometriosis, polycystic ovary syndrome (PCOS) and uterine fibroids have been proposed as endometrial cancer risk factors; however, disentangling their relationships with endometrial cancer is complicated due...
-
Article
Open AccessCorrection to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
An amendment to this paper has been published and can be accessed via the original article.
-
Article
Open AccessUnder-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients
Diagnostic screening for pathogenic variants in breast cancer susceptibility genes, including BRCA1, BRCA2, PALB2, PTEN and TP53, may be offered to New Zealanders from suspected high-risk breast (and ovarian) can...
-
Article
Open AccessAssociation of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologicall...
-
Article
Open AccessROR1 is upregulated in endometrial cancer and represents a novel therapeutic target
ROR1 and ROR2 are receptor tyrosine kinases with altered expression in a range of cancers. Silencing ROR1 or ROR2 in different tumour types has been shown to inhibit proliferation and decrease metastatic poten...
-
Article
Open AccessThe MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
Both colorectal (CRC, 15%) and endometrial cancers (EC, 30%) exhibit microsatellite instability (MSI) due to MLH1 hypermethylation and silencing. The MLH1 promoter polymorphism, rs1800734 is associated with MSI C...
-
Article
Open AccessAssessment of polygenic architecture and risk prediction based on common variants across fourteen cancers
Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data ...
-
Article
Open AccessCo-existence of leiomyomas, adenomyosis and endometriosis in women with endometrial cancer
Leiomyomas, adenomyosis, and endometriosis are reported to be risk factors for endometrial carcinoma (EC), and adenomyosis and endometriosis also for ovarian carcinoma (OC). We aimed to describe the prevalence...
-
Article
Open AccessAssessment of branch point prediction tools to predict physiological branch points and their alteration by variants
Branch points (BPs) map within short motifs upstream of acceptor splice sites (3’ss) and are essential for splicing of pre-mature mRNA. Several BP-dedicated bioinformatics tools, including HSF, SVM-BPfinder, B...
-
Article
Fine-map** of 150 breast cancer risk regions identifies 191 likely target genes
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining asso...
