|
rs748876625
|
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
5382insC frameshift mutation accounted for 67% and 300T>G missense mutation for 33% of all identified familial mutations.
|
14986830 |
2003 |
|
rs748876625
|
|
Carcinoma, Ovarian Epithelial
|
|
0.020 |
GeneticVariation
|
BEFREE |
This finding indicates the necessity of searching for 300T>G mutation in families with a single diagnosis of ovarian cancer in family.
|
22395474 |
2012 |
|
rs748876625
|
|
ovarian neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
This finding indicates the necessity of searching for 300T>G mutation in families with a single diagnosis of ovarian cancer in family.
|
22395474 |
2012 |
|
rs748876625
|
|
Malignant neoplasm of ovary
|
|
0.020 |
GeneticVariation
|
BEFREE |
This finding indicates the necessity of searching for 300T>G mutation in families with a single diagnosis of ovarian cancer in family.
|
22395474 |
2012 |
|
rs748876625
|
|
Primary malignant neoplasm
|
|
0.020 |
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 |
|
rs748876625
|
|
Malignant Neoplasms
|
|
0.020 |
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 |
|
rs748876625
|
|
Neoplasms
|
|
0.020 |
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 |
|
rs748876625
|
|
Neoplasms
|
|
0.020 |
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 |
|
rs748876625
|
|
ovarian neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history.
|
14986830 |
2003 |
|
rs748876625
|
|
Carcinoma, Ovarian Epithelial
|
|
0.020 |
GeneticVariation
|
BEFREE |
A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history.
|
14986830 |
2003 |
|
rs748876625
|
|
Malignant neoplasm of ovary
|
|
0.020 |
GeneticVariation
|
BEFREE |
A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history.
|
14986830 |
2003 |
|
rs748876625
|
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
The prevalence of 3 BRCA1 mutations (185delAG, 300T-->G and 5382insC) and 2 BRCA2 mutations (6174delT and 9326insA) was evaluated in a hospital-based consecutive series of 500 female breast cancer patients and 90 ovarian cancer patients, not selected for age at diagnosis or family history of cancer, as well as in 350 controls.
|
10797299 |
2000 |
|
rs748876625
|
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
The prevalence of 3 BRCA1 mutations (185delAG, 300T-->G and 5382insC) and 2 BRCA2 mutations (6174delT and 9326insA) was evaluated in a hospital-based consecutive series of 500 female breast cancer patients and 90 ovarian cancer patients, not selected for age at diagnosis or family history of cancer, as well as in 350 controls.
|
10797299 |
2000 |
|
rs748876625
|
|
Breast Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
The 5382insC mutation was found in 20 of 7920 (0.25%) population DNA samples and in 14 of 570 (2.46%) breast cancer samples; the T300G mutation was detected in 4 population samples (0.05%) and in 2 breast cancer samples (0.35%); the 185delAG or 4153delA mutations were not identified in any of the 7920 samples and were detected in 1 (0.18%) breast cancer case each.
|
23375855 |
2013 |
|
rs748876625
|
|
Breast Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26.
|
21503673 |
2011 |
|
rs748876625
|
|
Breast Carcinoma
|
|
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 |
|
rs748876625
|
|
Breast Carcinoma
|
|
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 |
|
rs748876625
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
The 5382insC mutation was found in 20 of 7920 (0.25%) population DNA samples and in 14 of 570 (2.46%) breast cancer samples; the T300G mutation was detected in 4 population samples (0.05%) and in 2 breast cancer samples (0.35%); the 185delAG or 4153delA mutations were not identified in any of the 7920 samples and were detected in 1 (0.18%) breast cancer case each.
|
23375855 |
2013 |
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
|
21473589 |
2011 |
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26.
|
21503673 |
2011 |
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
|
18285836 |
2008 |
|
rs748876625
|
|
Malignant neoplasm of breast
|
|
0.740 |
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 |