1 | OC 40 and BC 45 (51) |
BRCA1
| |
2804delAA
| | Pos/Neg | | Both mutations familial, maternal/paternal origin undetermined | | This report (AZG) |
| |
BRCA2
| | 3715delG | | | | |
| | | | | | | | | | |
2 | BC 28 (49) |
BRCA1
| |
2804delAA
| | Neg/Neg | | No information available | | This report (UMCN) |
| |
BRCA2
| | 4677delA | | | | | |
| | | | | | | | | | |
3 | Healthy 40 |
BRCA1
| |
185delAG
| | Pos/?? | | Two maternal cousins 185delAG, 6174delT probably paternal | | This report (UK) |
| |
BRCA2
| |
6174delT
| | | | |
| | | | | | | | | | |
4 | BC 51 (68) |
BRCA1
| |
5382insC
| | Pos/?? | | Maternal niece 5382insC, origin 6174delT unknown | | This report (UK) |
| |
BRCA2
| |
6174delT
| | | | |
| | | | | | | | | | |
5 | BC <39 |
BRCA1
| |
187delAG
| | Neg/Neg | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | | | | |
| | | | | | | | | | |
6 | BC 40 |
BRCA1
| |
5385insC
| | ??/?? | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | | | | |
| | | | | | | | | | |
7 | BC 41 |
BRCA1
| |
187delAG
| | Pos | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | Neg | | | | |
| | | | | | | | | | |
8 | Bilat BC 34 |
BRCA1
| |
187delAG
| | Pos | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | Pos | | | | |
| | | | | | | | | | |
9 | Bilat BC 33 (49) |
BRCA1
| |
5385delAG
| | ?? | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | ?? | | | | |
| | | | | | | | | | |
10 | Bilat BC 55 (56) |
BRCA1
| |
187delAG
| | Pos | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | Neg | | | | |
| | | | | | | | | | |
11 | Healthy 61 |
BRCA1
| |
5385insC
| | Pos | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | Neg | | | | |
| | | | | | | | | | |
12 | Healthy 66 |
BRCA1
| |
187delAG
| | Pos | | No information available | | This report/Frank et al23 |
| |
BRCA2
| |
6174delT
| | Neg | | | | |
| | | | | | | | | | |
13 | BC 48 and OC 50 |
BRCA1
| |
185delAG
| | Pos | | No information available | | Ramus et al10 |
| |
BRCA2
| |
6174delT
| | ?? | | | | |
| | | | | | | | | | |
14 | Index BC 38 |
BRCA1
| |
185delAG
| | Pos | | Father had neither mutation, mother assumed carrier of both mutations | | Friedman et al11 (pat No 1) |
15 | Mother OC 50† |
BRCA2
| |
6174delT
| | Pos | | | |
| | | | | | | | | | |
16 | OC 57 (62) |
BRCA1
| |
185delAG
| | Pos | | No information available | | Friedman et al11 (pat No 2) |
| |
BRCA2
| |
6174delT
| | ?? | | | | |
| | | | | | | | | | |
17 | Healthy 50 |
BRCA1
| |
185delAG
| | Pos | | No information available | | Friedman et al11 (pat No 3) |
| |
BRCA2
| |
6174delT
| | ?? | | | | |
| | | | | | | | | | |
18 | BC 45 (46) |
BRCA1
| |
5382insC
| | Pos | | 5382insC assumed to be maternal | | Friedman et al11 (pat No 4) |
| |
BRCA2
| |
6174delT
| | ?? | | | | |
| | | | | | | | | | |
19 | BC 35 |
BRCA1
| | 2508G→T | | Pos | | Mother neither mutation, no other family members available | | Liede et al12 |
| |
BRCA2
| | 3295insA | | Pos | | | |
| | | | | | | | | | |
20 | BC 30 and OC 41 |
BRCA1
| | 3888delGA | | Pos | | Mother and sister 6174delT; father 3888delGA | | Randall et al7 |
| |
BRCA2
| |
6174delT
| | Neg. | | | |
| | | | | | | | | | |
21 | BC <40 |
BRCA1
| | 3888delGA | | ?? | | Father 6174delT; neither parent 3888delGA; 3888delGA assumed paternal de novo | | Tesoriero et al13 |
| |
BRCA2
| |
6174delT
| | ?? | | | |
| | | | | | | | | | |
22 | Index healthy 36 |
BRCA1
| |
185delAG
| | Pos | | Brother and father neither mutation; sister only 185delAG; mother assumed carrier of both mutations | | Moslehi et al14 |
23 | Mother OC 36† |
BRCA2
| |
6174delT
| | Pos | | | |
| | | | | | | | | |
| | | | | | | | | | |
24 | BC 33 and 44 and 47 |
BRCA1
| |
5382insC
| | Neg | | No information available | | Bell et al15 |
| |
BRCA2
| |
6174delT
| | Pos | | | | |
| | | | | | | | | | |
25 | Index BC 28 |
BRCA1
| | 5242C→T | | Pos | | Mother both mutations | | Caldes et al16 |
26 | Mother healthy 70 |
BRCA2
| | 6503delTT | | ?? | | | | |
27 | Sister healthy 40 | | | | | | | | | |
28 | Cousin healthy 47 | | | | | | | | | |
29 | Cousin healthy 41 | | | | | | | | | |
30 | Aunt BC 70 | | | | | | | | | |
31 | Aunt BC 66 | | | | | | | | | |
| | | | | | | | | | |
32 | Index BC 33 |
BRCA1
| | E1661X | | Neg | | Mother both mutations | | Choi et al20 (pat 60071) |
33 | Mother stomach cancer 62 |
BRCA2
| | 6174del4 | | Neg | | | |
| | | | | | | | | | |
34 | Index BC 26 |
BRCA1
| | 1635del5 | | Neg | | No information available | | Choi et al20 (pat 60351) |
| |
BRCA2
| | 3026delCA | | Neg | | | |