A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

Nature Communications

Volumn 6, Issue , 2015, Pages

  Calvete, Oriol ^a,b   Martinez, Paula ^a   Garcia Pavia, Pablo ^c,d   Benitez Buelga, Carlos ^a   Paumard Hernández, Beatriz ^a   Fernandez, Victoria ^a   Dominguez, Fernando ^c   Salas, Clara ^c   Romero Laorden, Nuria ^e   Garcia Donas, Jesus ^e   Carrillo, Jaime ^f   Perona, Rosario ^b,f   Trivinõ, Juan Carlos ^g   Andrés, Raquel ^h   Cano, Juana Mariá ⁱ   Rivera, Bárbara ^a,n   Alonso Pulpon, Luis ^c   Setien, Fernando ^j   Esteller, Manel ^j,k,l   Rodriguez Perales, Sandra ^a   Bougeard, Gaelle ^m   Frebourg, Tierry ^m   Urioste, Miguel ^a,b   Blasco, Maria A ^a   Benítez, Javier ^a,b   more..

^a Centro Nacional de Investigaciones Oncológicas   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^d CENTRO NACIONAL DE INVESTIGACIONES CARDIOVASCULARES CNIC   (Spain)

^e Clara Campal Comprehensive Cancer Center   (Spain)

^f CSIC   (Spain)

^g Sistemas Genomicos Ltd   (Spain)

^h HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

ⁱ HOSPITAL GENERAL UNIVERSITARIO DE CIUDAD REAL   (Spain)

^j BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^k UNIVERSITY OF BARCELONA   (Spain)

^l INSTITUCIÓ CATALANA DE RECERCA I ESTUDIS AVANÇATS ICREA   (Spain)

^m ROUEN UNIVERSITY HOSPITAL   (France)

ⁿ MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTECTION OF TELOMERES 1; PROTEIN; UNCLASSIFIED DRUG; POT1 PROTEIN, HUMAN; PROTEIN P53; TELOMERE BINDING PROTEIN; TP53 PROTEIN, HUMAN;

ALLELE; CARDIOVASCULAR DISEASE; CHROMOSOME; DATABASE; GENE EXPRESSION; MOLECULAR ANALYSIS; MUTATION; PROTEIN; TUMOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ALLELE; ANGIOSARCOMA; ARTICLE; BLADDER CANCER; BREAST CANCER; CARDIAC ANGIOSARCOMA; COLORECTAL CANCER; COMPUTER MODEL; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; CUTANEOUS MELANOMA; EXOME; FAMILIAL CANCER; GENE; HAPLOTYPE; HEART SARCOMA; HUMAN; HUMAN CELL; IN VITRO STUDY; KIDNEY CANCER; LIVER CANCER; LIVER CELL CARCINOMA; LUNG ADENOCARCINOMA; LYMPHOMA; MEDIASTINUM TUMOR; MISSENSE MUTATION; MULTIPLE CANCER; MUSCLE CANCER; MUTATIONAL ANALYSIS; NEURILEMOMA; NON MELANOMA SKIN CANCER; PANCREAS CANCER; PEDIGREE ANALYSIS; POT1 GENE; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SOFT TISSUE SARCOMA; STRUCTURE ANALYSIS; TELOMERE; TESTIS CANCER; AGED; BREAST TUMOR; CHROMATIN IMMUNOPRECIPITATION; COMPUTER SIMULATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HEART TUMOR; HEREDITARY TUMOR; HIGH THROUGHPUT SCREENING; MALE; METABOLISM; MIDDLE AGED; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADULT; AGED; BLOTTING, WESTERN; BREAST NEOPLASMS; CHROMATIN IMMUNOPRECIPITATION; COMPUTER SIMULATION; FEMALE; HEART NEOPLASMS; HEMANGIOSARCOMA; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; IN VITRO TECHNIQUES; LI-FRAUMENI SYNDROME; MALE; MIDDLE AGED; MUTATION, MISSENSE; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TELOMERE; TELOMERE-BINDING PROTEINS; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84942645585     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms9383     Document Type: Article

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