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Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2011, Volume 48, Issue 4, pp. 226 - 234
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2019, Volume 96, Issue 6, pp. 579 - 584
The rate of genetic diagnosis of French patients with familial pancreatic ductal adenocarcinoma (PDAC) is not known. We report germline genetic testing data... 
FANCA | ATM | cancer genetics | INK4a‐ARF locus | familial pancreatic cancer | BAP1 | Adenocarcinoma | BRCA2 protein | Genetic variance | Transcription | BRCA1 protein | Pancreatic cancer | Genetic analysis | Tumorigenesis | Diagnosis | Population genetics | Genetic screening
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2013, Volume 50, Issue 4, pp. 264 - 270
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 05/2018, Volume 36, Issue 15_suppl, pp. e21559 - e21559
Journal Article
Genes, Chromosomes and Cancer, ISSN 1045-2257, 09/2017, Volume 56, Issue 9, pp. 691 - 694
Journal Article
Human Mutation, ISSN 1059-7794, 01/2014, Volume 35, Issue 1, pp. 117 - 128
ABSTRACT Xeroderma pigmentosum variant (XP‐V) is a rare genetic disease, characterized by some sunlight sensitivity and predisposition to cutaneous... 
melanomas | skin cancers | DNA repair | POLH | trans‐lesion polymerases | Melanomas | Skin cancers | Trans-lesion polymerases | trans-lesion polymerases | MECHANISM | HUMAN-CELLS | TRANSLESION SYNTHESIS | MOLECULAR ANALYSIS | REPAIR | REPLICATION | GENE | GENETICS & HEREDITY | DNA-POLYMERASE-ETA | JAPANESE PATIENTS | HYPERMUTATION | Melanoma - epidemiology | Carcinoma, Basal Cell - genetics | Xeroderma Pigmentosum - genetics | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - pathology | Humans | Middle Aged | Male | Carcinoma, Basal Cell - epidemiology | Mutation, Missense | DNA-Directed DNA Polymerase - genetics | Genetic Variation | Young Adult | Xeroderma Pigmentosum - pathology | Ultraviolet Rays | Melanoma - genetics | Aged, 80 and over | Adult | Female | Retrospective Studies | Protein Stability | Caffeine | Fibroblasts - metabolism | Skin Neoplasms - pathology | Xeroderma Pigmentosum - complications | Carcinoma, Squamous Cell - epidemiology | Cells, Cultured | Models, Molecular | Genotype | Carcinoma, Basal Cell - pathology | Melanoma - pathology | Skin Neoplasms - epidemiology | Phenotype | DNA Repair | Skin Neoplasms - genetics | Aged | DNA-Directed DNA Polymerase - metabolism | Proteins | Purines | Analysis | Melanoma | Development and progression | Genetic aspects | Skin | Skin cancer | Genotype & phenotype | Medical research | Mutation
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2018, Volume 26, Issue 12, pp. 1732 - 1742
In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings... 
INCIDENTAL FINDINGS | OLAPARIB | PROJECT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GERMLINE MUTATIONS | AMERICAN-COLLEGE | CONSENSUS | MEDICAL GENETICS | TUMORS | CLINICAL EXOME | CHALLENGES | Ethics | Genomes | Legal medicine | Genomics | Cancer | Life Sciences
Journal Article
Journal Article