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Germline BAP1 mutations misreported as somatic based on tumor-only testing

We present three unrelated patients with germline mutations in BAP1 misreported as somatic mutations. All had strong family histories of cancer. One of these patients presented with an invasive breast cancer with the tumor tissue showing partial loss of the mutant rather than the wild type allele, s...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Fam Cancer
Päätekijät: Abdel-Rahman, Mohamed H., Rai, Karan, Pilarski, Robert, Davidorf, Frederick H., Cebulla, Colleen M.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4983194/
https://ncbi.nlm.nih.gov/pubmed/26748926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-016-9865-9
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