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. Author manuscript; available in PMC: 2012 Oct 1.
Published in final edited form as: Hum Mutat. 2011 Sep 2;32(10):1075–1099. doi: 10.1002/humu.21557

Figure 1.

Figure 1

Mutational mechanisms leading to gross genomic rearrangements (structural variants) including copy number variations. Non-homologous end joining (NHEJ) comprises two sub-pathways, classical or canonical NHEJ (C-NHEJ) and alternative NHEJ (A-NHEJ). In practice, some clinically observed mutations represent the end result of an untraceable in vivo mutational process and can often be explained by two or even three different mechanisms. Hence, it is often not possible to distinguish a break-induced replication (BIR) event from a non-allelic homologous recombination (NAHR) event, a microhomology-mediated BIR (MMBIR) event from a serial replication slippage (SRS) or fork stalling and template switch (FoSTeS) event, and a NHEJ event (where microhomology-mediated) from a ‘microhomology-mediated replication-dependent recombination (MMRDR) event. By contrast, mutations resulting from telomere healing or L1 retrotransposition can usually be unequivocally attributed owing to the presence of signature sequences. DSB, double-strand break; GC, gene conversion; RC, replication fork; RS, replication slippage; SRS, serial replication slippage; SSA, single-strand annealing.

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