Table 3

 Mutations and clinical features of patients with MYH associated polyposis coli (MAP)

SexMutation 1Mutation 2Age at diagnosis (years)Number of polypsLocation CRCCRC stageMSIAge at CRC diagnosis (years)Upper GI tract manifestationsFamily historyOther cancer/other manifestations
Mutations: Asp91Asn (c.271G→A), Tyr165Cys (c.494A→G), Arg233X (c.697C→T), Pro366Thr (c.1096C→A), Ala371fs (c.1105delC), Gln377X (c.1129C→T), Gly382Asp (c.1145G→A), c.1172C→T (Pro391Leu), Glu396fs (c.1185_1186dupGG).
AC, ascending colon; AD, autosomal dominant; AR, autosomal recessive; C, caecum; CRC, colorectal cancer; DC, descending colon; FGP, fundic gland polyposis; HF, hepatic flexure; I, ileum; MSS, microsatellite stable; NA, no abnormalities; NR, not reported; R, rectum; S, sigmoid colon; SF, splenic flexure; TC, transverse colon; Tis, carcinoma in situ; UV, unclassified variant.
1MY165CY165C6510–100CB265Duodenum carcinoma, 2 adenomatous polypsSporadic
2MY165CY165C4535CDMSS45AD
3FY165CY165C45>25HFDMSS45SporadicBasal cell carcinoma skin (nose)
4FY165CY165C3950–100CBMSS39NASporadic
5FY165CY165C3350–100SFA44FGP and antrum: 20 polypsSporadic
6MY165CY165C34>100Duodenal polypsAD
7MY165CY165C45>100HF; R/SB1; B1MSS45; 68Ulcus ventriculiSporadic
8MY165CY165C36>100AD
9FY165CY165C4010–49R; SB; A40; 40Duodenal polypsSporadic
10MY165CY165C46MultipleARPapillary urothelial carcinoma bladder age 60
11MY165CY165C41Multiple2C, 2AC, I1 D, 4 NR41; 41; 41; 41; 41Sporadic
12FY165CY165C5410–100R; AC; I; leftA or B; NR; carcinoid; NRMSS54; 57; 77; 77ARBreast cancer (intracystic papillary carcinoma in situ) age 76 & Brc infiltrating ductal carcinoma, minor in situ component age 78 (unilateral)
13MY165CY165C49PolyposisSB249Barrett oesophagus with carcinomaAD
14FY165CY165C45PolyposisACDMSS45AR, parents consanguineousBasal cell carcinoma (chin) age 41
15FY165CG382D5410–100ARBreast cancer age 49, both sides (T1N0M0)
16FY165CG382D59>20HFB2MSS59AD
17FY165CG382D5830CTisMSS58AD
18FY165CG382D4310–50C; TCB1; B243; 46NASporadic
19MY165CG382D52>50MSSNAAR
20MY165CG382D67>100ACC267NAAD
21FY165CR233X4650–100ACB46NASporadic
22FY165CP391L4712Sporadic
23FY165CP391L4410–100MSSNAAR
24MY165CA371fs3710–100MSSNASporadic
25MY165CA371fs42PolyposisAD
26FY165CA371fs2136RAMSS21NAAD
27FG382DP391L4450–100SB2MSS44AD
28FG382DP391L4150–100MSSAR
29MG382DP391L48100–1000CA48Duodenal polypsAD
30MG382DA371fs4210–50DCA or B42NASporadic
31MG382DG382D45>15SporadicI1307K APC mutation
32FG382DG382D59PolyposisAC/CA59Sporadic
33FG382DG382D40PolyposisAD
34FP391Lp 391L57PolyposisRD57NRBreast cancer age 55 (ductal carcinoma in situ with a micro-invasive component)
35MP391Lp 391L37100–1000C; ACD; ?MSS37; 37AR
36FP391LA371fs40PolyposisRB42AD
37MP391L891+3A→C4050–100CD40AD
38F1185_1186dupGG1185_1186dupGG4210–50RBMSS42AD, parents consanguineous MoroccanCervix ca (squamous, HPV status unknown) age 27, Breast cancer (T1N0M0) age 49
39MQ377XQ377X37110–120Sporadic Turkish
40FY165C649-1G→A4210–50AR
41MY165Cnot detected46MultipleSA46AD
42MY165Cnot detected5210–50AR
43MG382Dnot detected47100–1000ACAMSS44AR
44MG382Dnot detected5010–50MSSNAAD
45FP366T (UV)not detected352NASporadicAge 27 mesenteric desmoid tumour
46MD91N (UV)not detected4230RA42NASporadic