Active: Melanoma Clear all

GWAS 2025-06-09

Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity.

Mies G, Tsao NL et al.

HGG Adv

Uveal melanoma (UM) is a rare but frequently metastasizing cancer. Genome-wide association studies h...

Uveal melanoma

354387

Participants

N/A

Studies

Details PubMed

GWAS 2024-08-14

Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis.

Ingold N, Seviiri M et al.

JAMA Dermatol

Importance: It is unknown whether germline genetic factors influence in situ melanoma risk different...

Melanoma in situ

738497

Participants

N/A

Studies

Details PubMed

GWAS 2023-01-05

Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.

Farré X, Blay N et al.

Genes (Basel)

Human pigmentation has largely been associated with different disease prevalence among populations, ...

Red vs non-red hair color

4979

Participants

N/A

Studies

Details PubMed

GWAS 2022-12-10

A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.

Seviiri M, Law MH et al.

Nat Commun

Basal cell carcinoma and squamous cell carcinoma are the most common skin cancers, and have genetic ...

Basal cell carcinoma (MTAG)

Replicated

2831314

Participants

N/A

Studies

Details PubMed

GWAS 2022-11-30

Common and rare variant associations with clonal haematopoiesis phenotypes.

Kessler MD, Damask A et al.

Nature

Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been associated ...

Clonal haematopoiesis of indeterminate potential (TET2 mutation)

Replicated

483781

Participants

N/A

Studies

Details PubMed

GWAS 2022-09-05

Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting.

Seviiri M, Scolyer RA et al.

J Transl Med

The role of germline genetic factors in determining survival from cutaneous melanoma (CM) is not wel...

Melanoma specific survival

Replicated

12929

Participants

N/A

Studies

Details PubMed

GWAS 2022-05-13

Genome-Wide Association Study Suggests the Variant rs7551288*A within the <i>DHCR24</i> Gene Is Associated with Poor Overall Survival in Melanoma Patients.

Pflugfelder A, Yong XLH et al.

Cancers (Basel)

Melanoma incidence rates are high among individuals with fair skin and multiple naevi. Established p...

Survival in melanoma

556

Participants

N/A

Studies

Details PubMed

GWAS 2021-11-20

Multi-trait genetic analysis identifies auto-immune loci associated with cutaneous melanoma.

Liyanage UE, MacGregor S et al.

J Invest Dermatol

Genome-wide association studies (GWAS) have identified a number of risk loci for cutaneous melanoma....

Cutaneous melanoma (MTAG)

Replicated

2012989

Participants

N/A

Studies

Details PubMed

GWAS 2021-11-01

Citrus-Gene interaction and melanoma risk in the UK Biobank.

Marley AR, Li M et al.

Int J Cancer

High citrus consumption may increase melanoma risk; however, little is known about the biological me...

Melanoma x citrus consumption interaction (2df)

194859

Participants

N/A

Studies

Details PubMed

GWAS 2021-08-23

Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.

Mobuchon L, Derrien AC et al.

J Natl Cancer Inst

Uveal melanoma (UM), a rare malignant tumor of the eye, is predominantly observed in populations of ...

Uveal melanoma

2024

Participants

N/A

Studies

Details PubMed

GWAS 2021-01-07

Genetic determinants of immune-related adverse events in patients with melanoma receiving immune checkpoint inhibitors.

Abdel-Wahab N, Diab A et al.

Cancer Immunol Immunother

Immune checkpoint inhibitors (ICIs) can cause profound immune-related adverse events (irAEs). The ho...

Response to immune checkpoint inhibitors in melanoma (immune-related adverse events)

Participants

N/A

Studies

Details PubMed

GWAS 2021-01-01

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Mangantig E, MacGregor S et al.

Hum Mol Genet

Germline genetic variants have been identified, which predispose individuals and families to develop...

Breslow thickness in cutaneous melanoma

8505

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity.

Mies G, Tsao NL et al.

HGG Adv

Uveal melanoma

2025-06-09

Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis.

Ingold N, Seviiri M et al.

JAMA Dermatol

Melanoma in situ

2024-08-14

Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.

Farré X, Blay N et al.

Genes (Basel)

Red vs non-red hair color

2023-01-05

A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.

Seviiri M, Law MH et al.

Nat Commun

Basal cell carcinoma (MTAG)

2022-12-10

Common and rare variant associations with clonal haematopoiesis phenotypes.

Kessler MD, Damask A et al.

Nature

Clonal haematopoiesis of indeterminate potential (TET2 mutation)

2022-11-30

Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting.

Seviiri M, Scolyer RA et al.

J Transl Med

Melanoma specific survival

2022-09-05

Genome-Wide Association Study Suggests the Variant rs7551288*A within the <i>DHCR24</i> Gene Is Associated with Poor Overall Survival in Melanoma Patients.

Pflugfelder A, Yong XLH et al.

Cancers (Basel)

Survival in melanoma

2022-05-13

Multi-trait genetic analysis identifies auto-immune loci associated with cutaneous melanoma.

Liyanage UE, MacGregor S et al.

J Invest Dermatol

Cutaneous melanoma (MTAG)

2021-11-20

Citrus-Gene interaction and melanoma risk in the UK Biobank.

Marley AR, Li M et al.

Int J Cancer

Melanoma x citrus consumption interaction (2df)

2021-11-01

Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.

Mobuchon L, Derrien AC et al.

J Natl Cancer Inst

Uveal melanoma

2021-08-23

Genetic determinants of immune-related adverse events in patients with melanoma receiving immune checkpoint inhibitors.

Abdel-Wahab N, Diab A et al.

Cancer Immunol Immunother

Response to immune checkpoint inhibitors in melanoma (immune-related adverse events)

2021-01-07

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Mangantig E, MacGregor S et al.

Hum Mol Genet

Breslow thickness in cutaneous melanoma

2021-01-01