Introduction
Materials and methods
Age-specific distribution of ER status and distribution of other markers
Statistical methods
Extending BOADICEA to incorporate tumour pathology
BRCA1 and BRCA2 mutation carrier probabilities
Calculations for example pedigrees
Results
ER status of tumours from mutation carriers and unselected breast cancers in the general population
Carrier | <30 years old | 30 to 39 years old | 40 to 49 years old | 50 to 59 years old | 60 to 69 years old | >70 years old |
---|---|---|---|---|---|---|
BRCA1
| 0.93 | 0.91 | 0.86 | 0.89 | 0.83 | 0.83a |
BRCA2
a
| 0.44 | 0.26 | 0.47 | 0.14 | 0.20 | 0.15 |
Expression of other markers in tumours from mutation carriers and unselected controls
Tumour phenotype | Controlsa | BRCA1carriers | BRCA2carriers |
---|---|---|---|
TN (among ER-negative cases) | 0.53 | 0.90 | 0.86 |
CK5/6-expressing and CK14-expressing TNb, c | 0.14 | 0.49 | 0.38d |
Either CK5/6-expressing or CK14-expressing TNb, c | 0.24 | 0.30 | 0.13d |
CK5/6-expressing TNb (only CK5/6 tested) | 0.26 | 0.64 | 0.38d |
CK14-expressing TNb (only CK14 tested) | 0.27 | 0.63 | 0.50 |
Breast cancer subtype-specific risks
Prediction of BRCA1 and BRCA2 carrier probabilities
Mother's age at diagnosis | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Proband age at diagnosis | Mother's ER status | 30 years | 40 years | 50 years | 60 years | 70 years | |||||
BRCA 1
|
BRCA2
|
BRCA1
|
BRCA2
|
BRCA1
|
BRCA2
|
BRCA1
|
BRCA2
|
BRCA1
|
BRCA2
| ||
30 years | Unknown |
0.45
|
0.16
|
0.24
|
0.14
|
0.15
|
0.10
|
0.09
|
0.09
|
0.06
|
0.10
|
ER-negative | 0.63 | 0.11 | 0.46 | 0.10 | 0.36 | 0.08 |
0.25
| 0.08 |
0.19
| 0.09 | |
ER-positive | 0.13 | 0.25 | 0.08 | 0.17 | 0.04 | 0.11 | 0.04 | 0.10 | 0.03 | 0.10 | |
40 years | Unknown |
0.23
|
0.14
|
0.11
|
0.10
|
0.07
|
0.07
|
0.04
|
0.06
|
0.03
|
0.07
|
ER-negative | 0.38 | 0.11 | 0.24 | 0.08 |
0.18
| 0.06 |
0.12
| 0.05 | 0.09 | 0.06 | |
ER-positive | 0.05 | 0.16 | 0.03 | 0.10 | 0.02 | 0.07 | 0.02 | 0.06 | 0.01 | 0.07 | |
50 years | Unknown |
0.12
|
0.08
|
0.06
|
0.06
|
0.04
|
0.04
|
0.02
|
0.04
|
0.02
|
0.04
|
ER-negative |
0.22
| 0.08 |
0.14
| 0.05 |
0.11
| 0.04 | 0.07 | 0.03 | 0.06 | 0.04 | |
ER-positive | 0.02 | 0.09 | 0.01 | 0.06 | 0.01 | 0.04 | 0.01 | 0.04 | 0.01 | 0.04 | |
60 years | Unknown |
0.06
|
0.07
|
0.03
|
0.04
|
0.02
|
0.03
|
0.01
|
0.03
|
0.01
|
0.04
|
ER-negative |
0.11
| 0.06 | 0.07 | 0.04 | 0.06 | 0.03 | 0.04 | 0.03 | 0.03 | 0.04 | |
ER-positive | 0.01 | 0.07 | 0.01 | 0.05 | 0.00 | 0.03 | 0.00 | 0.03 | 0.00 | 0.04 | |
70 years | Unknown |
0.03
|
0.07
|
0.01
|
0.05
|
0.01
|
0.03
|
0.01
|
0.03
|
0.00
|
0.04
|
ER-negative | 0.06 | 0.07 | 0.04 | 0.05 | 0.03 | 0.03 | 0.02 | 0.03 | 0.02 | 0.04 | |
ER-positive | 0.01 | 0.07 | 0.00 | 0.05 | 0.00 | 0.03 | 0.00 | 0.03 | 0.00 | 0.04 |