Table 2. Molecular characterization of the deletions and clinical features of the probands.

Patient	MSH2 ex 8 deletion	Breakpoint elements	RNA analysis	Tissue analyzed /cancer site (age) (years)	MS-status	IHC
A	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp	ND	Transverse (<50)	MSI-H	MSH2−/MSH6−
B	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp		Rectum (<50)
				Ascending (<50)	MSI-H	MSH2−/MSH6−
				Small bowel (<50)
C	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp	r.1277_1386del110	Ascending (<50)	MSI-H	MSH2−/MSH6−
				Ovary (<50)
D	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp		Rectum (<50)	MSI-H	MSH2−/MSH6−
E	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp	ND	Descending (<50)	MSI-H	MSH2−/MSH6−
F	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp	ND	Ovary (<50)
				Ascending (≥50)	MSI-H	MSH2−/MSH6−
				Small bowel (≥50)	MSI-H	MSH2−/MSH6−
G	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp	r.1277_1386del110	Transverse (<50)	MSI-H	MSH2−/MSH6−
H	c.1277−1180_1386+2226del3516insCATTCTCTTTGAAAA	Nonrepetitive AluSp	ND	Transverse(<50)	MSI-H	MSH2−/MSH6−
				Endometrium (<50)
L	c.1276+198_1386+3761del19280	AluSx–AluSx	ND	Splenic flexure (≥50)	MSI-H	MSH2−/MSH6−
				Ileocaecal valve (≥50)
				kidney/ureter (≥50)
M	c.1276+198_1386+3761del19280	AluSx–AluSx	r.1277_1386del110	Endometrium (<50)
				Colon (≥50)	MSI-Ha	MSH2− (MSH6 ND)
				Sigma (≥50)
N	c.1277−6284_1386+4776del11170	AluY–AluY	ND	Healty individual
Father of N
(deceased)				Ascending (<50 years)	MSI-H	MSH2−/MSH6−
				Descending (≥50)
P	c.1277−6224_1386+4836del11170	AluY–AluY	r.1277_1386del110	Ascending (<50)	MSI-H	MSH2−/MSH6−
Q	c.1277−4076_1386+1819del6005	AluSz6-nonrepetitive	r.1277_1386del110	Ascending (<50)	MSI-H	MSH2−/MSH6−
				Rectum (<50)
				Transverse (≥50)

Abbreviation: ND, not done.

^aOnly BAT26 was tested.