Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients

Table 3 Clinical characteristics of patients with MMR deficiency and confirmed HNPCC (N = 6)

Patient No.	Age	Site of Colorectal Cancer	Family History	Bethesda Criteria Met	MMR Protein Deficiency by IHC	Genomic Sequencing	Nucleotide Change	Amino Acid Change	Mechanism	Stage	Adjuvant Treatment	Survival and follow-up (as of Jan 2017)
139	28	Sigmoid	Maternal grandfather had resected colon mass at age 40	Yes #1	MSH6	MSH6	c.4002-2A>G^a	n/a	Intervening sequence, RNA processing	T3 N0 Stage IIA	Clinical trial E5202	85 m alive
170	33	Sigmoid	Father colon cancer at age < 40 y; Maternal grandmother colon cancer at age < 40	Yes #1, #4, #5	Not done	EPCAM MLH1 MSH2	3′ terminal deletion c.1100C > A deletion exon 1	Thr367 Asn	Large deletion of 3′ EPCAM and 5′ of MSH2	T4bN0 Stage IIC	Oxaliplatin + Xeloda	65 m alive
175	43	Transverse	Father died from gastric cancer, diagnosed at 53	Yes #1	MSH2, MSH6	MSH2	c.1386 + 2 T>C^b	n/a	Intervening sequence, RNA processing	T4aN1b Stage IIIB	Oxaliplatin 5-Fu Leucovorin	53 m (33 m since last f/u)
200	47	Sigmoid	Mother colon cancer at age 71	Yes #1	MSH6	MSH6	c.1882delT	Trp628 Glysfs^c7	Premature truncation of the amino acid at position 634	T3 N0 Stage IIA	None	22 m alive
226	71	Ascending	Son colon cancer at age 47	Yes #4	MSH6	MSH6	c.1882delT	Trp628 Glysfs^c7	Premature truncation of the amino acid at position 634	T3 N0 Stage IIA	None	32 m alive
275	42	Descending	Father colon cancer at age 35	Yes #1, #4	MLH1, PMS2	MLH1	c.677G > Ac	Arg226 Gln	Skipping of exon 8	T3 N0 Stage IIA	None	41 m (32 m since last f/u) Recurrence April 2014

^aThe MSH6 mutation c.4002-2A > G consists of a nucleotide substitution in a non-coding intervening sequence (IVS) occurring two nucleotides from the beginning of exon 10 [30]
^bThe MSH2 variant c.1386 + 2 T > C consists of a nucleotide substitution in a non-coding intervening sequence (IVS) occurring two base pairs from the end of exon 8 [30]
^cThe germline MLH1 mutation c.677G > A consists of a nucleotide substitution immediately adjacent to intron 8 [30]

ISSN: 1471-2407