Table 1 Details of cases reported with biallelic MSH2 mutations.

Family		Paternal mutation				Maternal mutation				Case		Malignancy		Age at diagnosis of malignancy (years)		Hyper‐ pigmented skin lesions		Other features		Reference
		Nucleotide change		Effect		Nucleotide change		Effect
1		1662‐1G→A		Splice defect		1662‐1G→A		Splice defect				T‐ALL		2		Yes		IgA deficiency		2
2		Exon 1‐6 del		Deletion of exons 1‐6		454delA		M152fs		IV.1		Mediastinal T‐NHL		1.25		Not stated				3
										IV.2		Glioblastoma		3		Not stated
3		2006‐5T→A		Probable splice defect		2006‐5T→A		Probable splice defect		1		CRC		12		Yes		Colonic and duodenal polyps		4
										2		CRC		11		Yes		Colonic and duodenal polyps
4		226C→T		Q76X		226C→T		Q76X		IV.1		Mediastinal T‐NHL		0.4		Yes		Hypopigmented skin lesions		This study
										IV.2		Mediastinal T‐NHL		2.5		Yes		Hypopigmented skin lesions, colonic adenomas
										IV.3		Mediastinal T‐NHL		2.5		Yes		Hypopigmented skin lesions, cystic pulmonary mass

CRC, colorectal carcinoma; T‐ALL, T‐cell acute lymphocytic leukaemia; T‐NHL, T‐cell non‐Hodgkin lymphoma.