rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
Modulation of HAT activity by BRCA2 N372H variation is a new mechanism of paclitaxel resistance in breast cancer.
|
28431939 |
2017 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
The BRCA2 homozygous variation p.N372H, previously associated with an increased risk for developing breast cancer, was not identified in this study.
|
15918047 |
2005 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P.
|
16485136 |
2006 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, representing the only common non-synonymous polymorphism in BRCA2, might modulate the risk of BC in male populations.
|
17767707 |
2007 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks.
|
15113441 |
2004 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia.
|
16257105 |
2006 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present.
|
20352487 |
2011 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
Overall, no significant associations were found between BRCA2 N372H polymorphism and breast cancer risk when all studies pooled into the meta-analysis (NH versus NN: OR = 1.01, 95% CI = 0.97-1.05; HH versus NN: OR = 1.05, 95% CI = 0.97-1.13; dominant model: OR = 1.01, 95% CI = 0.98-1.05; and recessive model: OR = 1.05, 95% CI = 0.98-1.13).
|
20135345 |
2010 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results suggest that the M/V784 polymorphism, but not the N/H372 polymorphism, would be useful in the selection of women at high risk for developing breast cancer and would also serve as a clinically useful prognostic factor in breast cancer patients.
|
12684407 |
2003 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group.
|
11062481 |
2000 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to be associated with a small increased risk of breast cancer.
|
12471628 |
2003 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer.
|
12496039 |
2002 |
rs144848
|
|
Malignant neoplasm of breast
|
|
0.100 |
GeneticVariation
|
BEFREE |
The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women.
|
11927503 |
2002 |