Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

BACKGROUND: Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. We estimate penetrance for symptomatic tum...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, Maher, Eamonn R
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Cancer Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992372/
https://ncbi.nlm.nih.gov/pubmed/29386252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-105127
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