Further mutation analyses here
Cohort description |
Kindred N |
Kindred with TP53 mutation N |
Mutation prevalence |
Reference PubMed ID |
LFS |
21 |
15 |
71.5% |
Varley, 1997 9242456 |
LFL-B |
18 |
4 |
22.2% |
Varley, 1997 9242456 |
Probands with sarcoma and BC (BC in proband or in a first degree relative), in family not fulfilling LFS |
21 |
1 |
4.8% |
Evans, 2002 12471212 |
Unrelated women with BC < 30 yo, with family history (HBCO or LFL) |
37 |
2 |
5% |
Lalloo, 2006 16644204 |
Unrelated women with BC < 30 yo, with NO family history of cancer |
63 |
2 |
3% |
Lalloo, 2006 16644204 |
Unrelated women with BC < 30 yo, with family history (HBOC or LFL) |
37 |
2 |
5% |
Lalloo, 2006 16644204 |
French families suggestive of LFS, including 232 families fulfilling Chompret criteria |
474 |
82 |
17.3% |
Bougeard, 2008 18511570 |
Unrelated women with BC < 30 yo, negative for BRCA1/2 mutation, not LFS/LFL |
95 |
2 (silent) |
2.1% (0%) |
Ginsburg, 2009 19714488 |
Probands with family history of cancer whose DNA was submitted to genetic testing at City of Hope CMDL |
525 |
91 |
17.3% |
Gonzalez, JCO 2009 19204208 |
BC < 30 yo, with no cancer in first- or second-degree relatives |
14 |
1 |
7.1% |
Gonzalez, JCO 2009 19204208 |
Probands having two or more cancers in families with history of various cancer types |
122 |
37 |
30.3% |
Gonzalez, JMG 2009 19556618 |
Unrelated women with BC < 36 yo, negative for BRCA1/2 mutation - In same patients, with NO family history (LFS/LFL) |
161 - 128 |
12 - 5 |
7.4% - 4.0% |
Tinat, 2009 19652052 |
Probands with primary gastric cancer in LFL families (only exons 5-8 analyzed) |
23 |
0 |
0% |
Corso, 2010 19674071 |
Women with BC <30 yo, irrespective of family history |
52 |
2 |
3.8 |
Mouchawar, 2010 20501846 |
Women with BC between 30-39 and with two or more 1st or 2nd relatives with BC or OC |
42 |
3 |
7.1 |
Mouchawar, 2010 20501846 |
Chompret revised |
105 |
22 |
21% |
Ruijs, 2010 20522432 |
LFS |
11 |
8 |
73% |
Ruijs, 2010 20522432 |
LFL-B |
36 |
10 |
28% |
Ruijs, 2010 20522432 |
Choroid plexus carcinomas |
18 |
8 |
44.4% |
Tabori, 2010 20308654 |
Choroid plexus papilloma |
6 |
0 |
0% |
Tabori, 2010 20308654 |