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Open AccessReply: Remarks on the BOADICEA model of genetic susceptibility to breast and ovarian Cancer Research UK
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Open AccessThe BOADICEA model of genetic susceptibility to breast and ovarian cancer
Several genes conferring susceptibility to breast and ovarian cancer, notably BRCA1 and BRCA2, have been identified. The majority of the familial aggregation of breast cancer is, however, not explained by thes...
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Open AccessATM polymorphisms as risk factors for prostate cancer development
The risk of prostate cancer is known to be elevated in carriers of germline mutations in BRCA2, and possibly also in carriers of BRCA1 and CHEK2 mutations. These genes are components of the ATM-dependent DNA dama...
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Article
Open AccessRole of MC1R variants in uveal melanoma
Variants of the melanocortin-1 receptor (MC1R) gene have been linked to sun-sensitive skin types and hair colour, and may independently play a role in susceptibility to cutaneous melanoma. To assess the role of M...
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Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer
Inherited susceptibility to prostate cancer has been linked to a number of chromosomal regions, however no genes have been unequivocally shown to underlie reported linkages. The putative gene localised to chro...
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Open AccessHPC2/ELAC2 polymorphisms and prostate cancer risk: analysis by age of onset of disease
The candidate prostate cancer susceptibility gene HPC2/ELAC2 has two common coding polymorphisms: (Ser→Leu 217) and (Ala→Thr 541). The Thr541 variant in the HPC2/ELAC2 gene has previously been reported to be at a...
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Association between the GCG polymorphism of the selenium dependent GPX1 gene and the risk of young onset prostate cancer
Epidemiological studies have suggested an association between low selenium levels and the development of prostate cancer. Human cellular glutathione peroxidase I (hGPX1) is a selenium-dependent enzyme that pro...
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A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic counselling purposes, it is important to allow for the fact that other breast cancer susceptibility genes may exist. We used da...
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Open AccessCAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers
Variation in the penetrance estimates for BRCA1 and BRCA2 mutations carriers suggests that other genetic polymorphisms may modify the cancer risk in carriers. A previous study has suggested that BRCA1 carriers wi...
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Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease
Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linke...
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Allele losses in the region 17q12–21 in familial breast and ovarian cancer involve the wild–type chromosome
A predisposing gene for breast and ovarian cancer has recently been mapped to chromosome 17q12–21. If this gene is a tumour suppressor gene, allele losses would be expected in the tumours of affected family me...
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A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominantly inherited cancer syndrome characterized by medullary carcinoma of the thyroid, phaeochromocytoma and hyperparathyroidism. Almost all gen...
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Immunological and histochemical analysis of regional variations of epidermal Langerhans cells in normal human skin
Epidermal Langerhans' cells (LC) were enumerated in normal human skin from various anatomical sites using a monoclonal antibody (NA1/34) to human thymocyte antigen (HTA-1) and the standard ATPase reaction on f...
