|
BRCA1
|
17q21.31 |
High |
Repair of DNA double-strand breaks using homologous recombination, cell cycle control, maintaining of genome integrity |
46–87% lifetime risk |
[88, 89] |
|
BRCA2
|
13q13.1 |
High |
Repair of DNA double-strand breaks using homologous recombination |
38–84% lifetime risk |
[88, 90] |
|
PALB2
|
16p12.2 |
Moderate |
Partner of BRCA2 and regulator of its stability and its nuclear localization |
35% at 70 years |
[91, 92] |
|
TP53
|
17p13.1 |
High |
Transcription Factor, cellular cycle, apoptosis, senescence, DNA Repair |
80% life-time risk (premenopausal) |
[93, 94] |
|
CDH1
|
16q22.1 |
Moderate |
E-cadherin, cellular adhesion molecule |
39–52% before 40 years (lobular cancer) |
[95, 96] |
|
PTEN
|
10q23.31 |
High |
Tumor phosphatase suppressor inhibiting PI3K and MAPK pathways |
25–50% lifetime risk |
[97, 98] |
|
RAD51C
|
17q22 |
Moderate |
Repair of DNA using homologous recombination in interaction with BRCA1/2
|
Not known |
[99–102] |
|
RAD51D
|
17q12 |
Moderate |
Repair of DNA using homologous recombination and maintaining of telomere |
Not known |
[103–105] |
|
MLH1
|
3p22.2 |
High |
Mismatch repair system |
5–18% |
[106–111] |
|
MSH2
|
2p21-p16 |
|
MSH6
|
2p16.3 |
Moderate |
Not known |
|
PMS2
|
7p22.1 |
|
EPCAM
|
2p21 |
Partner of MSH2
|