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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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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Agiannitopoulos, Konstantinos, Papadopoulou, Eirini, Tsaousis, Georgios N., Pepe, Georgia, Kampouri, Stavroula, Patsea, Eleni, Lypas, George, Nasioulas, George
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2020
Ämnen:
Länkar: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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