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Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, Jiang Q, Wubbenhorst B, D'Andrea K, Cohen RB, Domchek SM, Morrissette JJD, Greenberg RA, Babushok DV, Nathanson KL. Maxwell KN, et al. Among authors: merrill s. Clin Genet. 2023 Jan;103(1):119-124. doi: 10.1111/cge.14231. Epub 2022 Sep 26. Clin Genet. 2023. PMID: 36089892 Free PMC article.
Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.
Bradbury AR, Patrick-Miller L, Long J, Powers J, Stopfer J, Forman A, Rybak C, Mattie K, Brandt A, Chambers R, Chung WK, Churpek J, Daly MB, Digiovanni L, Farengo-Clark D, Fetzer D, Ganschow P, Grana G, Gulden C, Hall M, Kohler L, Maxwell K, Merrill S, Montgomery S, Mueller R, Nielsen S, Olopade O, Rainey K, Seelaus C, Nathanson KL, Domchek SM. Bradbury AR, et al. Among authors: merrill s. Genet Med. 2015 Jun;17(6):485-92. doi: 10.1038/gim.2014.134. Epub 2014 Oct 9. Genet Med. 2015. PMID: 25297947 Free PMC article.
271 results