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Fanconi anemia in Israel
34 different mutations were found, including 21 in FANCA and three each in FANCC, FANCD1, FANCG and FANCJ (Table 4); 76 patients were homozygous for muta- tions in Fanconi genes, and 12 patients were compound heterozygous; 33 different combinations of mutations were found (Table 4); 20 novel mutations were detected in
the cohort, as detailed in the Online Supplementary Table S1; 7 of these were previously reported by our group.13-15 The type of mutation varied, as detailed in Table 4. 26 patients had frameshift mutations, 19 patients had splice site mutations, 15 patients had deletions, 13 patients had nonsense mutations, nine patients had missense muta-
Table 3. Number of events of myelodysplastic syndrome, leukemia and solid tumors.
Cancer type Total FANCA FANCC FANCD1 FANCG FANCJ Undiagnosed
MDS 19 8 3 0 1 1 6
Leukemia
AML 14 3 1 1 2 1 6
ALL 1 1 0 0 0 0 0 HeadandNeck 6 3 0 0 0 0 3 GU 3 3 0 0 0 0 0 GI 3100002 Skin 3200001 Breast 1 0 0 0 0 0 1
MB 1 0 0 1 0 0 0
ALL: acute lymphoblastic leukemia; AML: acute myeloid leukemia; GI: gastrointestinal; GU: genitourinary; MB: medulloblastoma; MDS: myelodysplastic syndrome.
A
B
Figure 3. The distribution of the Fanconi ane- mia (FA) genes in Israel: (A) including siblings and (B) excluding siblings.
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