GTS5:PALB2-related cancer predisposition syndrome (PALB2): Difference between revisions
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|PALB2; Biallelic germline variants | |PALB2; Biallelic germline variants | ||
|Fanconi anemia (FA) pathway / interstrand crosslink repair | |Fanconi anemia (FA) pathway / interstrand crosslink repair | ||
|ailure of FA pathway coordination causes Fanconi anemia complementation group N, characterized by bone marrow failure, developmental abnormalities, and early-onset malignancies<ref name=":2" /><ref>Reid S, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype N. Nat Genet. 2007.</ref> | |ailure of FA pathway coordination causes Fanconi anemia complementation group N, characterized by bone marrow failure, developmental abnormalities, and early-onset malignancies<ref name=":2" /><ref name=":13">Reid S, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype N. Nat Genet. 2007.</ref> | ||
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|PALB2; Reversion mutations (therapy-associated) | |PALB2; Reversion mutations (therapy-associated) | ||
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<ref name=":12" />Edwards SL, et al. Resistance to therapy caused by intragenic deletion in BRCA2; analogous mechanisms in PALB2-deficient tumors. Nature. 2008. | <ref name=":12" />Edwards SL, et al. Resistance to therapy caused by intragenic deletion in BRCA2; analogous mechanisms in PALB2-deficient tumors. Nature. 2008. | ||
<ref name=":13" />Reid S, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype N. Nat Genet. 2007. | |||
==Notes== | ==Notes== | ||