|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
0.870 |
GeneticVariation
|
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
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 |
|
Malignant neoplasm of breast
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
Malignant neoplasm of breast
|
|
0.870 |
CausalMutation
|
CLINVAR |
|
|
|
|
Breast Carcinoma
|
|
0.770 |
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 |
|
Breast Carcinoma
|
|
0.770 |
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 |
|
Breast Carcinoma
|
|
0.770 |
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 |
|
Breast Carcinoma
|
|
0.770 |
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 |
|
Breast Carcinoma
|
|
0.770 |
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 |
|
Breast Carcinoma
|
|
0.770 |
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 |
|
Breast Carcinoma
|
|
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 |
|
Breast Carcinoma
|
|
0.770 |
CausalMutation
|
CLINVAR |
|
|
|
|
ovarian neoplasm
|
|
0.730 |
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 |
|
ovarian neoplasm
|
|
0.730 |
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 |
|
Malignant neoplasm of ovary
|
|
0.730 |
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 |
|
Malignant neoplasm of ovary
|
|
0.730 |
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 |