|
rs77724903
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs876660702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results of our studies suggest that a large proportion of familial breast cancer in Iceland is the result of the 999del5 BRCA2 mutation, and it is unlikely that BRCA1 and BRCA2 germline mutations other than 999del5 and G5193A play a significant role in hereditary breast cancer in Iceland.
|
9643283 |
1998 |
|
rs28363284
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.
|
15170666 |
2004 |
|
rs1064795860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified six patients (25%) with BRCA1 mutation of which three were found to be of novel type one in exon 16 (4956insG) and two in exon 7 (Lys110Thr) (Ser114Pro) out of 24 familial breast cancer patients studied from two different geographic regions/populations of India.
|
15564800 |
2004 |
|
rs1302297709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.
|
15170666 |
2004 |
|
rs140510218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found two sequence variants, 240G-->A in the 5' untranslated region and 1455C-->T (S388S) in exon 4, in five familial breast cancer cases.
|
15084242 |
2004 |
|
rs28904921
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer.
|
14871810 |
2004 |
|
rs397509062
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified six patients (25%) with BRCA1 mutation of which three were found to be of novel type one in exon 16 (4956insG) and two in exon 7 (Lys110Thr) (Ser114Pro) out of 24 familial breast cancer patients studied from two different geographic regions/populations of India.
|
15564800 |
2004 |
|
rs747364414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.
|
15170666 |
2004 |
|
rs80358505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found two sequence variants, 240G-->A in the 5' untranslated region and 1455C-->T (S388S) in exon 4, in five familial breast cancer cases.
|
15084242 |
2004 |
|
rs996659898
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found two sequence variants, 240G-->A in the 5' untranslated region and 1455C-->T (S388S) in exon 4, in five familial breast cancer cases.
|
15084242 |
2004 |
|
rs1042522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The R72P P53 mutation is associated with familial breast cancer in Jewish women.
|
15756275 |
2005 |
|
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The R72P P53 mutation is associated with familial breast cancer in Jewish women.
|
15756275 |
2005 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The R72P P53 mutation is associated with familial breast cancer in Jewish women.
|
15756275 |
2005 |
|
rs1058808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A case-control study analysing a cohort of 348 German familial breast cancer cases and 960 corresponding controls showed no significant association of either Ile655Val (OR = 1.05, 95% CI = 0.82-1.34, P = 0.728) or Ala1170Pro (OR = 0.94, 95% CI = 0.74-1.20, P = 0.632) with familial breast cancer risk.
|
15550452 |
2005 |
|
rs1136201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A case-control study analysing a cohort of 348 German familial breast cancer cases and 960 corresponding controls showed no significant association of either Ile655Val (OR = 1.05, 95% CI = 0.82-1.34, P = 0.728) or Ala1170Pro (OR = 0.94, 95% CI = 0.74-1.20, P = 0.632) with familial breast cancer risk.
|
15550452 |
2005 |
|
rs1801201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The confirmed variants Ile654Val, Ile655Val and Ala1170Pro were analysed in subsequent epidemiological studies on familial breast cancer risk.
|
15550452 |
2005 |
|
rs41293475
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer.
|
16168123 |
2005 |
|
rs4645959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we analysed the influence of the rare c-MYC Asn11Ser polymorphism on familial breast cancer risk by performing a case-control study with a Polish (cases n = 349; controls n = 441) and a German (cases n = 356; controls n = 655) study population.
|
15929079 |
2005 |
|
rs63750258
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Glu995STOP founder mutation is not a familial breast cancer predisposition allele and makes only a limited contribution to colorectal cancer burden in Finland.
|
15805151 |
2005 |
|
rs34301344
|
|
|
0.040 |
GeneticVariation |
BEFREE |
ARLTS1 is a tumor suppressor gene initially described as a low-penetrance cancer gene: a truncated Trp149Stop (MUT) polymorphism is associated with general familial cancer aggregation and, particularly, high-risk familial breast cancer.
|
17079447 |
2006 |
|
rs34301344
|
|
|
0.040 |
GeneticVariation |
BEFREE |
On the basis of the small number of 46 cases, we additionally showed an association between the Trp149Stop mutation and an increased risk of bilateral BC (OR=4.11, 95% CI=1.27-13.31, p=0.011).
|
16353159 |
2006 |
|
rs34301344
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Cys148Arg and Trp149Stop variants in the tumour suppressor gene ARLTS1 predispose to familial breast cancer, suggesting that these variants might also contribute to colorectal carcinogenesis.
|
16488076 |
2006 |
|
rs34301344
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Both Cys148Arg and Trp149Stop were associated with an increased risk of familial or high-risk familial breast cancer, respectively.
|
16646072 |
2006 |
|
rs755100942
|
|
|
0.040 |
GeneticVariation |
BEFREE |
ARLTS1 is a tumor suppressor gene initially described as a low-penetrance cancer gene: a truncated Trp149Stop (MUT) polymorphism is associated with general familial cancer aggregation and, particularly, high-risk familial breast cancer.
|
17079447 |
2006 |