A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Clinical Genetics

Volumn 88, Issue 3, 2015, Pages 267-272

  Wadt, Karin A W ^a   Aoude, L G ^b,c   Johansson, P ^b   Solinas, A ^d   Pritchard, A ^b   Crainic, O ^d   Andersen, M T ^a   Kiilgaard, J F ^e   Heegaard, S ^e   Sunde, L ^f   Federspiel, B ^e   Madore, J ^g   Thompson, J F ^g,h   Mccarthy, S W ^d,g,h   Goodwin, A ^d   Tsao, H ⁱ   Jonsson G ^j   Busam, K ^k   Gupta, R ^d,h   Trent, J M ^l   Gerdes, A M ^a   Brown, K M ^m   Scolyer, R A ^d,g,h   Hayward, N K ^b   more..

^a University of Copenhagen   (Denmark)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f AARHUS UNIVERSITY HOSPITAL   (Denmark)

^g MELANOMA INSTITUTE AUSTRALIA   (Australia)

^h UNIVERSITY OF SYDNEY   (Australia)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

^j LUND UNIVERSITY   (Sweden)

^k MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^l TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^m NATIONAL CANCER INSTITUTE   (United States)

more..

Author keywords

BAP1; BCC; Cancer predisposition syndrome; Germline mutation; Melanoma; Unknown primary tumor

Indexed keywords

BAP1 PROTEIN; UBIQUITIN THIOLESTERASE; UNCLASSIFIED DRUG; BAP1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; BASAL CELL CARCINOMA; CANCER LOCALIZATION; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CUTANEOUS MELANOMA; DISEASE PREDISPOSITION; EXTENSION GENE; FAMILIAL DISEASE; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; JUVENILE MELANOMA; MESOTHELIOMA; MIDDLE AGED; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; RECURRENT DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; UVEA MELANOMA; YOUNG ADULT; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; MALE; METABOLISM; PEDIGREE;

CARCINOMA, BASAL CELL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE;

EID: 84938844516     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12501     Document Type: Article

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