Report of a germline double heterozygote in MSH2 and PALB2

BACKGROUND: Carriers with pathogenic variants in MSH2 have increased risk to develop colorectal, endometrium, ovarian, and other types of cancer. The PALB2 is associated with breast, ovarian, pancreatic, and prostate cancer. We describe the case of a 42‐year‐old female diagnosed with endometrial can...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Agiannitopoulos, Konstantinos, Papadopoulou, Eirini, Tsaousis, Georgios N., Pepe, Georgia, Kampouri, Stavroula, Patsea, Eleni, Lypas, George, Nasioulas, George
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549547/
https://ncbi.nlm.nih.gov/pubmed/32853479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1242
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