Graham J. Mann
A5088150654- Cutaneous Melanoma Detection and Management
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Melanoma and MAPK Pathways
- Genetic Associations and Epidemiology
- Genetic factors in colorectal cancer
- Genomics and Chromatin Dynamics
- DNA Repair Mechanisms
- Computational Drug Discovery Methods
- Estrogen and related hormone effects
- Skin Protection and Aging
- Bioinformatics and Genomic Networks
- melanin and skin pigmentation
- Cancer Immunotherapy and Biomarkers
- Gene expression and cancer classification
- Epigenetics and DNA Methylation
- Immunotherapy and Immune Responses
- Nutrition, Genetics, and Disease
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Cancer-related Molecular Pathways
- CAR-T cell therapy research
- Glutathione Transferases and Polymorphisms
- Health Systems, Economic Evaluations, Quality of Life
- Molecular Biology Techniques and Applications
Kuopio University Hospital
2016-2025
University of Eastern Finland
2016-2025
Finland University
2014-2025
Melanoma Institute Australia
2015-2024
University of Helsinki
2012-2024
The University of Sydney
2015-2024
Australian National University
2020-2024
Helsinki University Hospital
2010-2024
Westmead Institute for Medical Research
2015-2024
Australia and New Zealand Banking Group
2024
Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These survived the founding bottleneck rather than being distributed over large ultrarare variants. Although this effect is well established Mendelian genetics, its value common disease genetics less explored 1,2 . FinnGen aims to study genome and national health register data...
To assess the frequency and type of oncogenic BRAF mutations in metastatic melanoma correlate status with clinicopathologic features outcome.Consecutive BRAF-tested Australian patients (n = 197) were observed prospectively. A comprehensive range variables correlated mutation status, a survival analysis was conducted.Forty-eight percent had mutation; 70 (74%) V600E, 19 (20%) V600K, six (6%) other genotypes. Other than age at diagnosis distant metastasis (median age, 56 v 63 years for...
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...
So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations CDKN2A account approximately 40% cases, and predisposing mutations CDK4 reported very small number kindreds. Here we report the whole-genome sequencing probands from several families, which performed order to identify other melanoma. We one individual carrying novel germline variant (coding DNA sequence c.G1075A; protein p.E318K; rs149617956)...
Abstract GenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest sample yet available to characterize mutations in high-risk susceptibility genes CDKN2A/alternate reading frames (ARF), which encodes p16 p14ARF, CDK4 evaluate their relationship with pancreatic cancer (PC), neural system tumors (NST), uveal (UM). This study included 466 families (2,137 patients) at least three patients 17 GenoMEL centers. Overall, 41%...
<b>Background:</b> The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are number patients melanoma in a family, early age at diagnosis, and family members multiple primary melanomas (MPM) or pancreatic cancer. <b>Methods:</b> These four features were examined 385 families ⩾3 pooled by 17 GenoMEL groups, these attributes compared across continents. <b>Results:</b> Overall, 39% had ranging from 20% (32/162) Australia 45% (29/65) North...
A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs risk varied by clinically important tumor characteristics up to 23,039 invasive cases 26,273 controls from 20...
PURPOSE To estimate age-specific relative and absolute cancer risks of breast to ovarian, pancreatic, male breast, prostate, colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these have not been extensively characterized. METHODS We analyzed data from 524 families PVs 21 countries. Complex segregation analysis was used (RRs; country-specific population incidences) cancers. The models allowed for residual familial aggregation ovarian were adjusted the...
Abstract Merkel cell carcinoma (MCC) is an uncommon, but highly malignant, cutaneous tumor. polyoma virus (MCV) has been implicated in a majority of MCC tumors; however, viral-negative tumors have reported to be more prevalent some geographic regions subject high sun exposure. While the impact MCV and viral T-antigens on development extensively investigated, little known about etiology tumors. We performed targeted capture massively parallel DNA sequencing 619 cancer genes compare gene...
Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased postmenopausal women. It unclear whether this association mediated through shared genetic or environmental factors.
Abstract Knowledge of key drivers and therapeutic targets in mucosal melanoma is limited due to the paucity comprehensive mutation data on this rare tumor type. To better understand genomic landscape melanoma, here we describe whole genome sequencing analysis 67 tumors validation driver gene mutations by exome 45 tumors. Tumors have a low point burden high numbers structural variants, including recurrent rearrangements targeting TERT, CDK4 MDM2 . Significantly mutated genes are NRAS , BRAF...