• Publications
  • Influence
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.
TLDR
The risks of breast cancer may be overestimated, but they fall well below previous estimates based on subjects from high-risk families.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
TLDR
Replication studies from several populations showed confirming evidence, with families of European ancestry giving strong evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4, and expression studies support a role for MAFBs in palatal development.
BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage
TLDR
It is concluded that BRCA1 regulates key effectors that control the G2/M checkpoint and is therefore involved in regulating the onset of mitosis.
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
TLDR
The results suggest that one in a hundred women of Ashkenazi descent may be at especially high risk of developing breast and/or ovarian cancer.
The Breast Cancer Information Core: Database design, structure, and scope
TLDR
The Breast Cancer Information Core (BIC) is an open access, on‐line mutation database for breast cancer susceptibility genes that provides technical support in the form of mutation detection protocols, primer sequences, and reagent access.
The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.
TLDR
In men and in women never given a diagnosis of cancer, family history of breast cancer before age 50 years was the strongest predictor of mutation status, and fewer mutations were found in this community sample than in clinical series studied to date.
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
TLDR
The small group of patients with biallelic mutations in BRCA2 is distinctive in the severity of the phenotype, and early onset and high rates of leukaemia and specific solid tumours, and may comprise an extreme variant of Fanconi anaemia.
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%
TLDR
Analysis of 107 Ashkenazi Jewish women with breast cancer and a family history of breast or ovarian cancer confirmed a four-fold greater prevalence for the BRCA1 185delAG mutation compared to theBRCA2 6174delT mutation, suggesting a difference in cumulative lifetime penetrance for the two mutations.
Characteristics of users of online personalized genomic risk assessments: Implications for physician-patient interactions
TLDR
Individuals who present to health care providers with online genetics information may be among the most motivated to take steps toward healthier lifestyles and these motives might be leveraged by health Care providers to promote positive health outcomes.
BRCA1 interacts with components of the histone deacetylase complex.
  • R. Yarden, L. Brody
  • Biology
    Proceedings of the National Academy of Sciences…
  • 27 April 1999
TLDR
It is demonstrated that BRCA1 interacts with components of the histone deacetylase complex, and therefore may explain the involvement of BRC a1 in multiple processes such as transcription, DNA repair, and recombination.
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