A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant-Reference-Cited by-同舟云学术

A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant

Published:2022-10-12 Issue:2 Volume:22 Page:217-224
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Foley Madeline,Sharma Anu,Garfield Kinley,Maese Luke,Buchmann Luke,Boyle Julie,Kohlmann Wendy,Jeter Joanne,Greenberg Samantha^ORCID

Funder

Division of Cancer Epidemiology and Genetics, National Cancer Institute

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10689-022-00318-9.pdf

Reference26 articles.

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2. Else T, Greenberg S, Fishbein L (1993) Hereditary Paraganglioma-Pheochromocytoma Syndromes. In: Adam MP, Everman DB, Mirzaa GM et al (eds) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1548/?report=classic

3. Fishbein L, Nathanson KL (2012) Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background cancer. Genet 205(1–2):1–11. https://doi.org/10.1016/j.cancergen.2012.01.009

4. Ricketts CJ, Forman JR, Rattenberry E et al (2010) Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat 31(1):41–51. https://doi.org/10.1002/humu.21136

5. Neumann HP, Pawlu C, Peczkowska M et al (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943–951. https://doi.org/10.1001/jama.292.8.943

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