rs28897672
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly) and c.5096G > A (p.Arg1699Gln) in a woman with breast cancer diagnosed at the age of 30 years.
|
31347298 |
2019 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T).
|
24528374 |
2015 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
|
24366402 |
2014 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
|
24366376 |
2014 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
BEFREE |
While the Cys61Gly mutation appeared underrepresented in ovarian cancer as compared with breast cancer cases from the same population (p = 0.01), the 4153delA mutation made a higher contribution to ovarian cancer than to breast cancer (p < 0.01).
|
20569256 |
2010 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
BEFREE |
To estimate the hereditary proportion of breast cancer in Belarus, we sought the presence of any of three founder mutations in BRCA1 (4153delA, 5382insC and C61G) in 500 unselected cases of breast cancer.
|
20507347 |
2010 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer.
|
20345474 |
2010 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03).
|
16227521 |
2006 |
rs28897672
|
|
|
0.870 |
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 |
rs28897672
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs28897672
|
|
C |
0.870 |
CausalMutation |
CLINVAR |
|
|
|
rs28897696
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
|
24366376 |
2014 |
rs28897696
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
|
24366402 |
2014 |
rs55770810
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
|
24366402 |
2014 |
rs55770810
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
|
24366376 |
2014 |
rs55770810
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X).
|
22889855 |
2012 |
rs28897696
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
rs55770810
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
rs28897696
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
rs55770810
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
rs28897696
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs55770810
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs28897696
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Two mutated forms of BRCA1, a missense (A1708E) and a nonsense (Y1853X) that have been identified in familial breast cancers, associated with Nmi and c-Myc but failed to suppress c-Myc-induced hTERT promoter activity.
|
11916966 |
2002 |