• Publications
  • Influence
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.
BRCA2 mutations predispose carriers to breast and ovarian cancer and can also cause other cancers and Fanconi anemia. BRCA2 acts as a "caretaker" of genome integrity by enabling homologousExpand
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Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.
BRCA1 and BRCA2 account for most cases of familial, early onset breast and/or ovarian cancer and encode products that each interact with hRAD51. Results presented here show that BRCA1 and BRCA2Expand
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Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
PURPOSE Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing of patients. We assessed the frequency of mutations inExpand
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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
PURPOSE Polymorphisms in tamoxifen metabolizing genes affect the plasma concentration of tamoxifen metabolites, but their effect on clinical outcome is unknown. METHODS We determined cytochromeExpand
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Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers
Ovarian carcinomas with mutations in the tumour suppressor BRCA2 are particularly sensitive to platinum compounds. However, such carcinomas ultimately develop cisplatin resistance. The mechanism ofExpand
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Gene-panel sequencing and the prediction of breast-cancer risk.
An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult to draw firm conclusions from the dataExpand
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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer
Importance Germline pathogenic variants in BRCA1 and BRCA2 predispose to an increased lifetime risk of breast cancer. However, the relevance of germline variants in other genes from multigeneExpand
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Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
BACKGROUND Oral contraceptive use has been associated with an increase in the risk of breast cancer in young women. We examined whether this association is seen in women at high risk of breast cancerExpand
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Comprehensive molecular portraits of human breast tumors
We analysed primary breast cancers by genomic DNA copy number arrays, DNA methylation, exome sequencing, messenger RNA arrays, microRNA sequencing and reverse-phase protein arrays. Our ability toExpand
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Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
CONTEXT Mastectomy and salpingo-oophorectomy are widely used by carriers of BRCA1 or BRCA2 mutations to reduce their risks of breast and ovarian cancer. OBJECTIVE To estimate risk and mortalityExpand
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