Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer

Table 1 Details of the pedigree analysis

Classification	Degree of relationship	7 exonmutation	3 exonmutation	Type of the tumor,age at tumor detection	Age at investigation
I/1	Sister of the mother of the index person’s mother			Breast cancer, 61 yr	Died
I/2	Mother of the index person’s mother				76 yr
I/3	Brother of the father of the index person’s mother	+		CRC, 56 yr	68 yr
I/4	Sister of the father of the index person’s mother	+			61 yr
I/5	Husband of the person No I/4		+		64 yr
I/6	Mother of the index person’s father			Gastric cancer, 55 yr	Died
I/7	Father of the index person’s father			Lung cancer, 75 yr	Died
II/1	Index person’s mother	+		CRC, 43 yr	54 yr
II/2	Index person’s father		+		58 yr
II/3	Sister of index person’s father		+		48 yr
II/4	The middle son of person No I/4	+	+	CRC, 34 yr	36 yr
II/5	The youngest son of person No I/4	+			32 yr
II/6	The oldest son of person No I/4				39 yr
III/1	Index person	+	+	CRC, 31 yr	33 yr
III/2	Index person’s younger brother	+	+		28 yr
IV/1	Older son of the index person				3 yr
IV/2	Younger son of the index person				1 yr

CRC:colorectal carcinoma.

Table 2 Type and location of detected mutations

Gene	Exon	Codon	Mutation	Type
hMSH2	7	422	gaa→taa Glu→STOP	Nonsense
hMSH2	3	127	aat→agt Asn→Ser	Missense