Condition: Paraganglioma


rs104894302 in SDHD gene and Paraganglioma PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 20816580 2010 Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 11391798 2001 Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively.

PMID 11391798 2001 Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively.