. Author manuscript; available in PMC: 2015 Nov 1.

Published in final edited form as: Hum Mutat. 2014 Nov;35(11):1342–1353. doi: 10.1002/humu.22680

Table 4.

Breakdown of Likely Mechanisms Causing Deletions in FA Genes

Gene	Proposed Mechanism^**	Non-Recurrent	Reccurrent	Percentage	Observed Breakpoint Characteristics
FANCA^*	FoSTeS/MMBIR	3	0	5	insertions of 29, 34 and 178 bases
	NHEJ	2	1	5	homology of 0–2 bases or insertion of 1–2 bases
	alt-EJ	7	1	15	homology of 2, 3 or 4 bases
	NAHR	37	4	75	Alu-Alu repeats in the same orientation

FANCC	FoSTeS/MMBIR	0	1	--	insertions of 18 bases
FANCC	NHEJ	1	0	--	insertion of one base

The 68 FANCA deletions accounted for 55 distinct breakpoints

^**

Criteria for determining mechanism (as described in Yang et al., 2013, Cell)

NHEJ	Deletion breakpoints have an insertion 1–10 bp or homology < 2 bp
FoSTeS/MMBIR	Deletion breakpoints have an insertion > 10 bp
alt-EJ	Deletion breakpoints do not have an insertion and homology 2–100 bp
NAHR	Deletion breakpoints do not have an insertion bit have an homology > 100 bp