• Publications
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Genome-wide association study identifies novel breast cancer susceptibility loci
TLDR
To identify further susceptibility alleles, a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls was conducted, followed by a third stage in which 30 single nucleotide polymorphisms were tested for confirmation. Expand
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.
TLDR
PALB2 licenses key cellular biochemical properties of BRCA2 and ensures its tumor suppression function, as well as enabling homologous recombination (HR)-based, error-free DNA double-strand break repair (DSBR) and intra-S phase DNA damage checkpoint control. Expand
Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.
TLDR
BRCA1 and BRCA2 participate, together, in a pathway(s) associated with the activation of double-strand break repair and/or homologous recombination and Dysfunction of this pathway may be a general phenomenon in the majority of cases of hereditary breast and/ or ovarian cancer. Expand
Comprehensive molecular portraits of human breast tumors
TLDR
The ability to integrate information across platforms provided key insights into previously defined gene expression subtypes and demonstrated the existence of four main breast cancer classes when combining data from five platforms, each of which shows significant molecular heterogeneity. Expand
Subtyping of Breast Cancer by Immunohistochemistry to Investigate a Relationship between Subtype and Short and Long Term Survival: A Collaborative Analysis of Data for 10,159 Cases from 12 Studies
Paul Pharoah and colleagues evaluate the prognostic significance of immunohistochemical subtype classification in more than 10,000 breast cancer cases with early disease, and examine the influence ofExpand
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
TLDR
A meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, and identified 29,807 SNPs for further genotyping suggests that more than 1,000 additional loci are involved in breast cancer susceptibility. Expand
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
TLDR
The complete coding sequence and exonic structure of BRCA2 is determined, and its pattern of expression is examined, and a mutational analysis of B RCA2 in families selected on the basis of linkage analysis and/or the presence of one or more cases of male breast cancer is reported. Expand
Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers
TLDR
The results suggest that secondary mutations that restore the wild-type BRCA2 reading frame may be a major clinical mediator of acquired resistance to platinum-based chemotherapy. Expand
Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes.
  • M. Goetz, J. Rae, +10 authors J. Ingle
  • Medicine
  • Journal of clinical oncology : official journal…
  • 20 December 2005
TLDR
In tamoxifen-treated patients, women with the CYP2D6 *4/*4 genotype tend to have a higher risk of disease relapse and a lower incidence of hot flashes, which is consistent with the previous observation that CYP3A5*3 variant was not associated with any of these clinical outcomes. Expand
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
TLDR
Among a cohort of women with BRCa1 and BRCA2 mutations, the use of risk-reducing mastectomy was associated with a lower risk of breast cancer, first diagnosis of breastcancer, all-cause mortality, breast cancer-specific mortality, and ovarian cancer- specific mortality. Expand
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