Article
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Journal of medical genetics - 1 Jun 2018
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
Abstract excerpt
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 tumours and elucidate genotype-phenotype correlations in a large cohort of SDHB/SDHC/SDHD mutation carriers. METHODS: A...
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