Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

Table 1

Selected FA samples with mutations previously identified by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA), used for validation of the next-generation sequencing approach.

Sample (affected gene)	Allele 1	Allele 2	Reference
Sam 1 (BRCA2)	c.9253dupA	—	BIC DB#
Sam 2 (FANCA)	c.3558insG	—	[4]
Sam 3 (FANCG)	c.271–272del	c.620delT	[4]
Sam 4a (FANCA)	c.1464C>G	c.2632G>C	[4]
Sam 4b (FANCA)	Ex 15–23 del	—	[4]
Sam 5 (BRCA1)	c.2694dupA	—	BIC DB#
Sam 6 (FANCC)	c.376–377del	c.844-1G>C	[4]
Sam 7 (FANCA)	Ex 1–20 del	c.893+920 C>A	[5]
Sam 8 (FANCB)	c.811insT	absent	[4]
Sam 9 (FANCE)	c.91C>T	c.91C>T	[4]
Sam 10 (PALB2)	Ex 1–10 del	c.1802T>A	[6]
Sam 11 (FANCI)	c.2509G>T	NF*	[4]

#Breast cancer information core database available at http://www.research.nhgri.nih.gov/bic/.
*NF: not found.