Patient No | Age at diagnosis | Family history and site | MSI markers positive | MSI classification | MSH2 | MLH1 | MSH6 | |||||||
2 | 39 | Father prostate, paternal grandmother CSU, patient had second primary colon cancer, Hodgkin's lymphoma | 0/5 | N | No | No | No | |||||||
3 | 74 | No | 4/5 | H | No | Germline GAG(Glu) to GGG(Gly) at codon 578 | No | |||||||
5 | 73 | Yes, CSU | 0/5 | N | No | No | No | |||||||
7 | 40 | Mother ovarian | 0/5 | N | No | No | No | |||||||
9 | 67 | Mother breast | 4/5 | H | No | No | No | |||||||
10 | 77 | Mother GI & sister pancreatic | 0/5 | N | No | No | No | |||||||
13 | 50 | Brother testicular | 0/5 | N | No | Somatic GAA(Glu) to AAA(Lys) at codon 668 | Somatic GAT(Asp) to TAT(Tyr) at codon 575 | |||||||
Somatic GAA(Glu) to TAA(stop) at codon 1359 | ||||||||||||||
14 | 66 | Mother & father CSU | 0/5 | N | No | No | No | |||||||
15 | 51 | Maternal aunt, mother, sister lymphoma | 4/5 | H | No | No | No | |||||||
16 | 38 | Aunt breast | 0/5 | N | No | No | No | |||||||
17 | 58 | Father lung, mother breast, maternal grandmother gallbladder | 0/5 | N | No | No | No | |||||||
19 | 79 | Sister breast, daughter colon | 1/5 | L | No | No | No | |||||||
21 | 45 | Sister melanoma, grandmother breast | 0/5 | N | No | No | No | |||||||
23 | 65 | Mother endometrial | 0/5 | N | No | No | No | |||||||
26 | 64 | Father, sister, brother colon | 0/5 | N | No | No | No | |||||||
Sister breast, grandson brain | ||||||||||||||
30 | 57 | Maternal grandmother rectal | 0/5 | N | No | No | No | |||||||
31 | 78 | Half sister breast | 2/5 | H | Somatic A deletion in (A)7 repeat of exon 4 | No | No | |||||||
34 | 78 | Aunt & sister breast | 0/5 | N | No | No | No | |||||||
37 | 76 | Family history of stomach cancer | 0/5 | N | No | Somatic GAG(Glu) to AAG(Lys) at codon 515 | No | |||||||
38 | 54 | Father CSU | 0/5 | N | No | No | No | |||||||
41 | 52 | Mother leukaemia and colon | 0/5 | N | No | No | no | |||||||
42 | 50 | No | 1/5 | L | No | No | No | |||||||
45 | 85 | Mother pancreatic | 0/5 | N | No | No | No | |||||||
48 | 57 | Mother colon, father lung | 4/5 | H | No | No | No | |||||||
50 | 67 | Maternal aunt bone | 3/5 | H | No | No | Somatic C deletion in (C)8 repeat of exon 5 | |||||||
51 | 74 | No | 2/5 | H | No | No | No | |||||||
52 | 49 | Family history of breast, bladder and colon | 3/5 | H | Germline GGC(Gly) to GAC(Asp) at codon 322 | Somatic GAT (Asp) to AAT(Asn) at codon 203 | No | |||||||
Also family history of haematological malignancies | Somatic A deletion in (A)7 repeat of exon 4 | |||||||||||||
55 | 78 | Brother bladder | 0/5 | N | No | No | No | |||||||
56 | 77 | Mother & sister pancreatic, maternal uncle CSU | 3/5 | H | No | No | No | |||||||
57 | 68 | Mother and two sisters colon | 3/5 | H | No | No | Somatic C insertion in (C)8 repeat of exon 5 | |||||||
60 | 52 | Mother breast & colon, two sisters breast | 0/5 | N | No | No | No | |||||||
61 | 56 | Mother breast, ovarian, colon, sister colon, grandmother endometrial | 0/5 | N | No | No | No | |||||||
64 | 85 | Patient had second primary colon cancer | 0/5 | N | No | No | No | |||||||
65 | 60 | Father, two aunts & uncle leukaemia, sister breast, uncle stomach | 3/5 | H | No | No | No | |||||||
66 | 56 | Mother colon, uncle prostate | 0/5 | N | No | No | No | |||||||
67 | 77 | Sister CSU | 0/5 | N | No | No | No | |||||||
68 | 49 | Maternal grandmother & aunt gastric, maternal aunt breast, father lung cancer | 5/5 | H | No | No | No | |||||||
70 | 57 | Mother breast | 1/5 | L | No | No | No | |||||||
78 | 59 | Mother gastric | 5/5 | H | No | No | No | |||||||
79 | 80 | Sister colon, sister ovarian | 0/5 | N | No | No | No | |||||||
83 | 57 | Niece breast | 0/5 | N | No | No | No | |||||||
84 | 72 | Sister breast | 2/5 | H | No | No | No |
CSU=cancer site unspecified, H=high, L=low, N=negative.