Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
JD Fackenthal, OI Olopade - Nature Reviews Cancer, 2007 - nature.com
Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors
of breast and/or ovarian cancer development. The contribution of these mutations to breast …
of breast and/or ovarian cancer development. The contribution of these mutations to breast …
Breast cancer genetics in African Americans
OI Olopade, JD Fackenthal, G Dunston, MA Tainsky… - Cancer, 2003 - Wiley Online Library
BACKGROUND An overview of the state of genetic testing for BRCA1 and BRCA2 genes
was presented at the Summit Meeting on Breast Cancer Among African American women …
was presented at the Summit Meeting on Breast Cancer Among African American women …
Aberrant RNA splicing and its functional consequences in cancer cells
JD Fackenthal, LA Godley - Disease models & mechanisms, 2008 - journals.biologists.com
Among the myriad of alterations present in cancer cells are an abundance of aberrant
mRNA transcripts. Whether abnormal gene transcription is a by-product of cellular …
mRNA transcripts. Whether abnormal gene transcription is a by-product of cellular …
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer
We carried out a genome-wide association study of breast cancer predisposition with
replication and refinement studies involving 6,145 cases and 33,016 controls and identified …
replication and refinement studies involving 6,145 cases and 33,016 controls and identified …
Hepatic CYP2B6 expression: gender and ethnic differences and relationship to CYP2B6 genotype and CAR (constitutive androstane receptor) expression
CYP2B6 metabolizes many drugs, and its expression varies greatly. CYP2B6 genotype-
phenotype associations were determined using human livers that were biochemically …
phenotype associations were determined using human livers that were biochemically …
Male breast cancer in Cowden syndrome patients with germlinePTEN mutations
JD Fackenthal, DJ Marsh, AL Richardson… - Journal of medical …, 2001 - jmg.bmj.com
Cowden syndrome (CS)(OMIM 158350) is a multiple hamartoma syndrome associated with
germline mutations in the PTEN tumour suppressor gene. While CS is characterised most …
germline mutations in the PTEN tumour suppressor gene. While CS is characterised most …
Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and …
ContextTen years after BRCA1 and BRCA2 were first identified as major breast cancer
susceptibility genes, the spectrum of mutations and modifiers of risk among many ethnic …
susceptibility genes, the spectrum of mutations and modifiers of risk among many ethnic …
Microtubule architecture specified by a β-tubulin isoform
EC Raff, JD Fackenthal, JA Hutchens, HD Hoyle… - Science, 1997 - science.org
In Drosophila melanogaster, a testis-specific β-tubulin (β2) is required for spermatogenesis.
A sequence motif was identified in carboxyl termini of axonemal β-tubulins in diverse taxa …
A sequence motif was identified in carboxyl termini of axonemal β-tubulins in diverse taxa …
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients
JD Fackenthal, J Zhang, B Zhang… - … journal of cancer, 2012 - Wiley Online Library
Inherited mutations in the BRCA1 and BRCA2 genes are the strongest genetic predictors of
breast cancer and are the primary causes of familial breast/ovarian cancer syndrome. The …
breast cancer and are the primary causes of familial breast/ovarian cancer syndrome. The …
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
M Colombo, MJ Blok, P Whiley… - Human molecular …, 2014 - academic.oup.com
Loss-of-function germline mutations in BRCA1 (MIM# 113705) confer markedly increased
risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in …
risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in …