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The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.
BACKGROUND Carriers of germ-line mutations in BRCA1 and BRCA2 from families at high risk for cancer have been estimated to have an 85 percent risk of breast cancer. Since the combined frequency of… Expand
BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage
- R. Yarden, S. Pardo-Reoyo, M. Sgagias, K. Cowan, L. Brody
- Biology, Medicine
- Nature Genetics
- 11 February 2002
The breast cancer tumor-suppressor gene, BRCA1, encodes a protein with a BRCT domain—a motif that is found in many proteins that are implicated in DNA damage response and in genome stability.… Expand
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned1, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian… Expand
The Breast Cancer Information Core: Database design, structure, and scope
The Breast Cancer Information Core (BIC) is an open access, on‐line mutation database for breast cancer susceptibility genes. In addition to creating a catalogue of all mutations and polymorphisms in… Expand
The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.
- P. Hartge, J. Struewing, S. Wacholder, L. Brody, M. Tucker
- Medicine, Biology
- American journal of human genetics
- 1 April 1999
Three founder mutations in the cancer-associated genes BRCA1 and BRCA2 occur frequently enough among Ashkenazi Jews to warrant consideration of genetic testing outside the setting of high-risk… Expand
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Patients with biallelic mutations in BRCA2 are in Fanconi anaemia group D1. We analysed the severity of the mutations in 27 cases, classified according to their association with breast cancer in… Expand
Characteristics of users of online personalized genomic risk assessments: Implications for physician-patient interactions
- C. McBride, S. H. Alford, R. Reid, E. Larson, A. Baxevanis, L. Brody
- Genetics in Medicine
- 1 August 2009
Purpose: To evaluate what psychological and behavioral factors predict who is likely to seek SNP-based genetic tests for multiple common health conditions where feedback can be used to motivate… Expand
Maternal Vitamin B12 Status and Risk of Neural Tube Defects in a Population With High Neural Tube Defect Prevalence and No Folic Acid Fortification
OBJECTIVE. Folic acid fortification has reduced neural tube defect prevalence by 50% to 70%. It is unlikely that fortification levels will be increased to reduce neural tube defect prevalence… Expand
BRCA1 interacts with components of the histone deacetylase complex.
Germ-line mutations in the BRCA1 tumor-suppressor gene are associated with an increased susceptibility to breast and ovarian cancer. BRCA1 contains a carboxyl-terminal domain (BRCT) that is shared… Expand
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%
Certain germline mutations in either BRCA1 or BRCA2 confer a lifetime risk of developing breast cancer that may approach 90% 1–3. The BRCA1 185delAG mutation was found in 20% and the BRCA2 6174delT… Expand