rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases.
|
26656232 |
2016 |
rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These findings suggest that the Brazilian founder mutation p.R337H, the most frequent germline TP53 mutation reported to date, is not a common germline alteration in Portuguese women diagnosed with BC.
|
25052705 |
2015 |
rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Although 75% of carriers of these mutations showed significant HER2 overexpression (3+), corroborating previous studies, only 22.7% of p.R337H patients had BC overexpressing HER2.
|
25564201 |
2015 |
rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%-15.8%) than at age 55 or older (5.1%, CI95%: 3.2%-7.7%), p<0.001).
|
24936644 |
2014 |
rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R337H has been identified in Brazilian families with Li-Fraumeni or related syndromes predisposing to cancers in childhood (ie, brain, renal, and adrenocortical carcinomas), adolescence (ie, soft tissue and bone sarcomas), and young adulthood (ie, breast cancer).
|
19717094 |
2009 |
rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These results demonstrate that the R337H mutation can significantly increase the risk of breast cancer in carriers, which likely depends on additional cooperating genetic factors.
|
19046423 |
2008 |
rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Here we have assessed the prevalence of R337H in 750 healthy women participating in a community-based breast cancer screening program in the area of Porto Alegre.
|
18248785 |
2008 |
rs121912664
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Families with the R337H mutation presented a wide spectrum of tumours, including breast cancers (30.4%), brain cancers (10.7%), soft tissue sarcomas (10.7%) and adrenocortical carcinomas (8.9%).
|
16494995 |
2007 |