Table 2

 Summary of MSH2 and MLH1 exonic rearrangements detected by QMPSF in HNPCC families

MSH2 Families MLH1 Families
*del, deletion.
†Previously published in Charbonnier et al.3
‡Dup, duplication.
We have not included in this table two MLH1 rearrangements removing exon 2 and exons 12–13 that we had initially detected by RT-PCR and documented in Charbonnier, et al.4
del* exon 1R1†, R2†, P14del exons 1–19U4,U5
del exons 1–2P15, R12, R13, R20del exon 4–6Lu4
del exons 1–4L7†del exon 6S10
del exons 1–6Li8†, R14, P16, U1, U2, S1, R18del exons 7–9R19
del exons 1–7R9†, Lu1, Lu2, S2, R21del exons 9–10P20
del exons 1–8R10†, R11†, S3, S4del exon 11S11, U6
del exons 1–11U3del exon 14S12
del exons 1–15P12†
del exon 2S5
del exon 3R3†, P17
del exons 4–6Lu3
del exon 5P5†
del exon 5–6P13†
del exon 7L6†
del exon 7–10S6
del exon 8P18, R15, S7, R16
del exons 9–10P19
del exons 12–13R17
del exons 13–15S8
Dup‡ exons 7–8S9
Dup exons 9–10L14†