|
rs28897672
|
|
C |
0.770 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80356898
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80357474
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80357522
|
|
CT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs80357678
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1800709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years, and cancer in one parent.
|
8968716 |
1996 |
|
rs80356881
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two BRCA1 mutations in a high risk breast cancer family: the missense 1240 C > T (Thr > Ile) and the 1241delAC at codon 374, which results in a stop at codon 376.
|
10424783 |
1999 |
|
rs1799950
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs80357796
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs1800744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
|
11836613 |
2002 |
|
rs80357138
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carriage of the rare allele of XRCC2 R1</span>88H was associated with breast cancer overall [odds ratio 1.3; 95% confidence interval (CI)=(1.0, 1.8)] and when younger-onset cases with a positive family history were compared with older controls with no family history [odds ratio 1.9; 95% CI=(1.0, 3.8)].
|
12023985 |
2002 |
|
rs80356898
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A human tumor xenograft (L56Br-X1) was established from a breast cancer axillary lymph node metastasis of a 53-year-old woman with a BRCA1 germ-line nonsense mutation (1806C>T; Q563X), and a cell line (L56Br-C1) was subsequently derived from the xenograft.
|
12649339 |
2003 |
|
rs748876625
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We found that an exogenous BRCA1 gene strongly inhibited telomerase enzymatic activity in human prostate and breast cancer cell lines and caused telomere shortening in cell lines expressing wild-type BRCA1 (wtBRCA1) but not a tumor-associated mutant BRCA1 (T300G). wtBRCA1 inhibited the expression of the catalytic subunit (telomerase reverse transcriptase [TERT]) but had no effect on the expression of a subset of other components of the telomerase holoenzyme or on the expression of c-Myc, a transcriptional activator of TERT.
|
14612409 |
2003 |
|
rs80357060
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The HER2 I655V polymorphism and breast cancer risk in Ashkenazim.
|
14569185 |
2003 |
|
rs80357125
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer.
|
14550946 |
2003 |
|
rs730881496
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of 25 variants identified in BRIP1, in addition to four common silent or missense mutations, we identified Gln540Leu, a non-conservative amino acid change, in a single familial proband with inflammatory breast cancer, but this mutation was not present in her three relatives with breast cancer.
|
12872252 |
2003 |
|
rs747364414
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a prevalence of around 2% only (comparison to controls, OR = 2.6, 95% CI 1.12-6.03; p < 0.021).
|
15170666 |
2004 |
|
rs16941
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant increase in the cancer risk associated either with harboring one additional putative high-risk NHEJ genotype or with the joint effect of having reproductive risk factors (reflected by an interval of > or =12 years between menarche and first full-term pregnancy) and a higher number of high-risk genotypes of the NHEJ genes was only seen in women with at least one variant BRCA1 allele (i.e., the Glu/Gly or Gly/Gly forms of BRCA1 Glu(1038)Gly); and (b) a phenotype-based study measuring in vitro and in vivo NHEJ capacity showed that the precise end-joining capacity was different in breast cancer cell lines with different BRCA1 statuses being higher in BRCA1-expressing MCF-7 cells than in HCC1937 cells (defective BRCA1 expression).
|
15256476 |
2004 |
|
rs4986854
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the variants V1804D and M1628T at the transcriptional activation domain of BRCA1 of two ovarian cancer patients without a family history of ovarian or breast cancer.
|
15350310 |
2004 |
|
rs80356886
|
|
|
0.010 |
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 |
|
rs80356920
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the variants V1804D and M1628T at the transcriptional activation domain of BRCA1 of two ovarian cancer patients without a family history of ovarian or breast cancer.
|
15350310 |
2004 |
|
rs876658341
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No associations with breast cancer were observed for: APEX Q51H; XRCC1 R280H; IGFPB3 -202A>C; TGFss1 L10P, P25R, and T263I; BRCA2 N289H and T1915M; BRIP1 -64A>C; and ZNF350 (or ZBRK1) 1845C>T, L66P, R501S, and S472P.
|
15113441 |
2004 |
|
rs28897672
|
|
|
0.770 |
GeneticVariation |
BEFREE |
The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) than were either of the truncating BRCA1 mutations 4153delA (OR=2.0) and 5382insC (OR=6.2).
|
15980987 |
2005 |
|
rs748876625
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Screening for three mutations (5382insC, 4154delA and 300T>G) was carried out in 55 breast cancer and 66 ovarian cancer patients, and for two mutations, 5382insC and 4154delA, in 376 unselected patients with any cancer (including 51 breast cancer and 29 ovarian cancers) and 215 women with any gynaecological tumour.
|
15951956 |
2005 |
|
rs397509171
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, we found no evidence that the ATM c.4258C>T variant increases breast cancer risk, and little evidence that c.1066-6T>G confers an elevated risk.
|
15880680 |
2005 |