Germline NPAT inactivating variants as cause of hereditary colorectal cancer-Reference-Cited by-同舟云学术

Germline NPAT inactivating variants as cause of hereditary colorectal cancer

Published:2024-05-22 Issue:7 Volume:32 Page:871-875
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Terradas Mariona^ORCID,Schubert Stephanie A.^ORCID,Viana-Errasti Julen^ORCID,Ruano Dina,Aiza Gemma,Nielsen Maartje^ORCID,Marciel Paula,Tops Carli M.,Parra Genís,Morreau Hans^ORCID,Torrents David,van Leerdam Monique E.^ORCID,Capellá Gabriel^ORCID,de Miranda Noel F. C. C.,Valle Laura^ORCID,van Wezel Tom^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01625-8.pdf

Reference18 articles.

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2. Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, et al. Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open. 2020;3:e203959.

3. Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med. 2020;26:1235–9.

4. Idos G, Valle L. Lynch Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews(®). Seattle (WA): University of Washington; 1993.

5. Nieminen TT, O’Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, et al. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology. 2014;147:595–8.e5.

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