Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-Causing POLH Mutations

Human Mutation

Volumn 35, Issue 1, 2014, Pages 117-128

  Opletalova, Kristina ^a   Bourillon, Agnès ^b   Yang, Wei ^c   Pouvelle, Caroline ^a   Armier, Jacques ^a   Despras, Emmanuelle ^a   Martin, Ludovic ^d   Mateus, Christine ^a   Robert, Caroline ^a   Kannouche, Patricia ^a   Soufir, Nadem ^b,e   Sarasin, Alain ^a  

^a INSTITUT GUSTAVE ROUSSY   (France)

^b BICHAT HOSPITAL   (France)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

DNA repair; Melanomas; POLH; Skin cancers; Trans lesion polymerases; UV

Indexed keywords

CAFFEINE; CYCLOHEXIMIDE; DNA POLYMERASE; ETRETINATE; FLUOROURACIL; IMIQUIMOD; IRIDIUM 192; POLH PROTEIN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BASAL CELL CARCINOMA; BOWEN DISEASE; BRACHYTHERAPY; CANCER CHEMOTHERAPY; CANCER INCIDENCE; CANCER MORTALITY; CANCER RADIOTHERAPY; CANCER RECURRENCE; CANCER SURGERY; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DESMOPLASTIC MELANOMA; DISEASE COURSE; DISTANT METASTASIS; DNA SEQUENCE; DNA SYNTHESIS; EPITHELIUM TUMOR; EXCISION REPAIR; EXON; EXTERNAL AUDITORY CANAL; EYE TUMOR; EYELID TUMOR; FAMILY HISTORY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC TRAIT; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INTRON; KIDNEY HEMANGIOMYOLIPOMA; LIP CARCINOMA; LIPOSARCOMA; LOWER LIP SQUAMOUS CELL CARCINOMA; LUNG CARCINOMA; LYMPH NODE DISSECTION; LYMPH NODE METASTASIS; MALE; MELANOMA; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MULTIMODALITY CANCER THERAPY; NONSENSE MUTATION; PHOTOALLERGY; PHOTOPHOBIA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; RNA SEQUENCE; SEQUENCE ANALYSIS; SKIN ATROPHY; SKIN BIOPSY; SKIN CANCER; SKIN FIBROBLAST; SKIN PIGMENTATION; SKIN SCAR; SKIN TUMOR; SQUAMOUS CELL CARCINOMA; STOP CODON; SUICIDE; TELANGIECTASIA; ULTRAVIOLET RADIATION; WESTERN BLOTTING; XERODERMA PIGMENTOSUM; XEROSIS;

ADULT; AGED; AGED, 80 AND OVER; CAFFEINE; CARCINOMA, BASAL CELL; CARCINOMA, SQUAMOUS CELL; CELLS, CULTURED; DNA REPAIR; DNA-DIRECTED DNA POLYMERASE; FEMALE; FIBROBLASTS; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MELANOMA; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; PROTEIN STABILITY; RETROSPECTIVE STUDIES; SKIN NEOPLASMS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM; YOUNG ADULT;

EID: 84890794532     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22462     Document Type: Article

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