Search Results - "Ponder, B A J"
-
1
Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations
Published in British journal of cancer (29-11-2004)“…Women with mutations of the genes BRCA1 or BRCA2 are at increased risk of ovarian cancer. Oral contraceptives protect against ovarian cancer in general, but it…”
Get full text
Journal Article -
2
Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations
Published in JNCI : Journal of the National Cancer Institute (05-08-1998)“…Background: We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their…”
Get full text
Journal Article -
3
A clonal marker induced by mutation in mouse intestinal epithelium
Published in Nature (London) (02-06-1988)“…A cellular marker for individual somatic cells and their clonal descendents would be a valuable tool for the investigation of cell lineages and clonal…”
Get full text
Journal Article -
4
Germline Homozygous Mutations at Codon 804 in the RET Protooncogene in Medullary Thyroid Carcinoma/Multiple Endocrine Neoplasia Type 2A Patients
Published in The journal of clinical endocrinology and metabolism (01-06-2005)“…The effect of mutations at codon 804 in the RET protooncogene is disputed. Some studies have suggested that the V804L mutation causes the low penetrance…”
Get full text
Journal Article -
5
HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer
Published in British journal of cancer (18-12-2006)“…ERBB2 is frequently amplified in breast tumours as part of a wide region of amplification on chromosome 17q21. This amplicon contains many candidate genes for…”
Get full text
Journal Article -
6
Interactions between genes involved in the antioxidant defence system and breast cancer risk
Published in British journal of cancer (21-08-2006)“…The aim of the study is to examine the association between multilocus genotypes across 10 genes encoding proteins in the antioxidant defence system and breast…”
Get full text
Journal Article -
7
Paternal origin of new mutations in Von Recklinghausen neurofibromatosis
Published in Nature (London) (08-02-1990)“…Von Recklinghausen neurofibromatosis (NF-1) is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10(-4] is one of the highest for a…”
Get full text
Journal Article -
8
UHRF1 is a novel molecular marker for diagnosis and the prognosis of bladder cancer
Published in British journal of cancer (07-07-2009)“…Background: Bladder cancer is the second most common cancer of the urinary system. Early diagnosis of this tumour and estimation of risk of future progression…”
Get full text
Journal Article -
9
Common BRCA1 Variants and Susceptibility to Breast and Ovarian Cancer in the General Population
Published in Human molecular genetics (01-02-1997)“…Most multiple case families of young onset breast cancer and ovarian cancer are thought to be due to highly penetrant mutations in the predisposing genes BRCA1…”
Get full text
Journal Article -
10
Common Polymorphisms in Checkpoint Kinase 2 Are not Associated with Breast Cancer Risk
Published in Cancer epidemiology, biomarkers & prevention (01-08-2003)“…A substantial proportion of the familial risk of breast cancer may be attributable to genetic variants each contributing a small effect. Polymorphisms in DNA…”
Get full text
Journal Article -
11
Clonal origin of epithelial ovarian carcinoma: analysis by loss of heterozygosity, p53 mutation, and X-chromosome inactivation
Published in JNCI : Journal of the National Cancer Institute (02-12-1992)“…It has been suggested that multiple sites of epithelial ovarian carcinoma on the peritoneal surface reflect polyclonal disease arising from multiple primary…”
Get more information
Journal Article -
12
Common germ-line polymorphism of C1QA and breast cancer survival
Published in British journal of cancer (13-04-2010)“…Background: A synonymous single nucleotide polymorphism (SNP) rs172378 (A>G, Gly−>Gly) in the complement component C1QA has been proposed to be associated with…”
Get full text
Journal Article -
13
Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer
Published in British journal of cancer (24-03-2009)“…Low–moderate risk alleles that are relatively common in the population may explain a significant proportion of the excess familial risk of ovarian cancer (OC)…”
Get full text
Journal Article -
14
Further evidence for an HLA-related recessive mutation in nasopharyngeal carcinoma among the Chinese
Published in British journal of cancer (14-03-2005)“…We typed 247 cases of nasopharyngeal carcinoma (NPC), a disease predominantly of the southern Chinese, and 274 controls from the Chao Shan region of China's…”
Get full text
Journal Article -
15
Mutation analysis of CBP and PCAF reveals rare inactivating mutations in cancer cell lines but not in primary tumours
Published in British journal of cancer (04-11-2002)“…In this study we screened the histone acetyltransferases CBP and PCAF for mutations in human epithelial cancer cell lines and primary tumours. We identified…”
Get full text
Journal Article -
16
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
Published in Human genetics (01-05-1998)“…Mutation screening in neurofibromatosis type 1 (NF1) families has long been hampered by the complexity of the NF1 gene. By using a novel multi-track screening…”
Get full text
Journal Article -
17
Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium
Published in Journal of internal medicine (01-10-1995)“…The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in…”
Get more information
Journal Article -
18
Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population
Published in British journal of cancer (19-06-2006)“…A substantial proportion of the familial risk of breast cancer may be attributable to genetic variants each contributing a small effect. pRb controls the cell…”
Get full text
Journal Article -
19
Comparison of prophylactic oophorectomy specimens from carriers and noncarriers of a BRCA1 or BRCA2 gene mutation
Published in JNCI : Journal of the National Cancer Institute (07-04-1999)“…BACKGROUND: The natural history of ovarian cancer is not well understood and, to date, there is conflicting evidence as to whether or not there is a…”
Get full text
Journal Article -
20
A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
Published in Nature (London) (01-08-1987)Get full text
Journal Article