Table 1.
ID | Mutation | Tumor | Age at diagnosis | Year of diagnosis | Screen detected | FIGO (2009) | Treatment | Outcome | Other Neoplasms |
---|---|---|---|---|---|---|---|---|---|
1 | MLH1 | Endometriod | 42 | 2006 | No | 1b | Surgery | Alive | Nil |
2 | MLH1 | Mixed | 52 | 1997 | No | 2a | Surgery | Dead (1997) | Nil |
3 | MLH1 | Clear cell | 47 | 2004 | No | 1a | Surgery | Dead # (2006) | Nil |
4 | MLH1 | Endometrioid | 38 | 2012 | No* | 2c | Surgery | Alive | Dukes A CRC and AH** |
5 | MLH1 | Endometrioid | 37 | 1997 | No | 1b | Surgery + AC | Alive | Nil |
6 | MLH1 | Clear cell | 60 | 2005 | No | 2b | Surgery + AC | Alive | Nil |
7 | MLH1 | Endometrioid | 45 | 1960 | No | 1a | Surgery | Dead (1996) | EC** |
8 | MLH1 | Endometrioid | 46 | 1988 | No | 3a | Surgery | Dead # (1989) | EC** |
9 | MSH2 | Endometrioid | 24 | 1956 | No | 1a | Surgery | Alive | Breast (1991 &2006) Ureteric (1986) Skin (numerous) EC (1965) |
10 | MSH2 | High grade serous | 47 | 2003 | No | 1c | Surgery | Alive | EC** |
11 | MSH2 | Mixed | 33 | 2011 | No | 3c | Surgery + AC | Alive | Nil |
12 | MSH2 | High grade serous | 34 | 1973 | No | 2a | NK | Dead (1991) | Nil |
13 | MSH2 | Endometrioid | 41 | 2008 | No* | 1a | Surgery (?AC) | Alive | EC** Brenner tumor (benign) left ovary |
14 | MSH2 | Other | 48 | 2005 | No | 1a | Surgery + AC | Alive | Nil |
15 | MSH2 | Clear cell | 34 | 2005 | Yes | 1c | Surgery | Alive | Caecum Dukes CRC 32 Sigmoid Dukes CRC 34 |
16 | MSH2 | Endometrioid | 51 | 2014 | No | 1a | Surgery + AC | Alive | Nil |
17 | MSH2 | High grade serous | 25 | 1988 | No | 1c | Surgery | Alive | Nil |
18 | MSH2 | Endometrioid | 42 | 1999 | No | 1a | Surgery | Dead# (2000) |
Nil |
19 | MSH2 | High grade serous | 50 | 1999 | No | 1c | Surgery | Alive | Nil |
20 | MSH2 | Endometrioid | 41 | 2009 | No | 1c | Surgery | Alive | Nil |
21 | MSH2 | Endometrioid | 41 | 2012 | No | 1b | Surgery | Alive | Nil |
22 | MSH2 | Carcinosarcoma | 41 | 1994 | No | 2a | Surgery | Dead (1997) | EC** |
23 | MSH2 | Endometrioid | 51 | 2005 | No | 1c | Surgery | Dead# (2006) |
Nil |
24 | MSH2 | High grade serous | 70 | 2005 | No | 3b | Surgery + AC | Alive | Dukes C CRC (1982) TCC bladder (2004) RCC (2007) |
25 | MSH2 | Endometrioid | 43 | 1997 | No | 1a | Surgery | Alive | DCIS (1989) |
26 | MSH2 | Endometrioid | 57 | 2011 | No | 2a | NK | Alive | EC** |
27 | MSH2 | High grade serous | 67 | 2006 | No | 1a | Surgery | Alive | TCC (1997) |
28 | MSH2 | Endometrioid | 41 | 2008 | No* | 1b | Surgery | Alive | EC** |
29 | MSH2 | Clear cel | 46 | 1984 | No | NK | Surgery | Dead# (1985) |
Oesophageal (1969) |
30 | MSH2 | Endometrioid | 55 | 1986 | No | 3a | Surgery | Dead (2011) | Duke C CRC (1989) |
31 | MSH2 | Endometrioid | 33 | 2004 | Yes | 1c | Surgery | Alive | Nil |
32 | MSH6 | Mixed | 67 | 2012 | No | 4 | Surgery + AC | Dead# (2015) | Dukes B CRC (2012) |
33 | MSH6 | Other | 33 | 1971 | No | 1a | missing data | missing data | missing data |
34 | MSH6 | Endometrioid | 46 | 1992 | No | 1a | Surgery | Alive | Nil |
35 | MSH6 | Mixed | 49 | 2010 | No | 2a | Surgery + AC | Alive | Nil |
36 | MSH6 | Endometrioid | 44 | 2001 | No | 1b | Surgery + AC | Alive | Benign dermoid cyst right ovary |
37 § |
PMS2 (homozygote) | Mixed | 27 | 2012 | No | 1c (both) | Surgery | Alive | Gastric Adenocarcinoma EC** |