Table 2.

Frequently overlapping regions among preinvasive cases

ChromosomeCytobandLength (bp)Potential gene of interestPrevious reportEstimated SCA typeSCA detected (n = 6)
2p2p22.33,112,242RASGRP3NoAmplification3
3p3p26.3–12.376,829,014RARB, SEMA3BYesDeletion/CN-LOH4
5p5p15.33–1147,814,582TERT, GDNFYesAmplification3
5q5q14.1613,020SSBP2NoDeletion/CN-LOH3
7p7p15.3531,270DFNA5NoDeletion/CN-LOH4
7q7q36.3858,066PTPRN2NoDeletion/CN-LOH3
8p8p23.3–11.2139,942,807MTUS1YesComplex3
9p9p24.3–21.226,562,586CDKN2AYesDeletion/CN-LOH5
9q9q31.1–31.25,599,950RNF20NoDeletion/CN-LOH5
13q13q11–3495,827,527RB1, BRCA2YesDeletion/CN-LOH3
14q14q21.1–21.22,530,363FANCMNoDeletion/CN-LOH3
21q21q22.2–22.36,154,199TFF1NoDeletion/CN-LOH3

NOTE: SCA regions shared by at least 2 patients are shown. The trend SCA type was estimated by investigating the mean value of LRR in the detected segment.

“Complex” indicates both deleted and amplified segments exist in the region.

Boldface types are the genes selected for FISH and qPCR assays to confirm the estimated trend of SCA type (shown in Figs. 2 and 3).