Deborah Thompson

Genome-wide association study identifies novel breast cancer susceptibility loci (2007)

Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D.P., Thompson, Deborah, Ballinger, Dennis G., ...

Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast...

Genome-wide association study identifies novel breast cancer susceptibility loci (2007)

Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., ...

Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast...

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene (2007)

Rahman, Nazneen, Seal, Sheila, Thompson, Deborah, Kelly, Patrick, Renwick, Anthony, Elliott, Anna, ...

PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in...

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles (2006)

Seal, Sheila, Thompson, Deborah, Renwick, Anthony, Elliott, Anna, Kelly, Patrick, Barfoot, Rita, ...

We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081...

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles (2006)

Renwick, Anthony, Thompson, Deborah, Seal, Sheila, Kelly, Patrick, Chagtai, Tasnim, Ahmed, Munaza, ...

We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The...

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium (2002)

Thompson, Deborah, Szabo, Csilla I., Mangion, Jon, Oldenburg, Rogier A., Odefrey, Fabrice, Seal, Sheila, ...

The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancer...

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations (2002)

Meijers-Heijboer, Hanne, Van Den, Ans, Klijn, Jan, Wasielewski, Marijke, De Snoo, Anja, Oldenburg, Rogier, ...

Mutations in BRCA1 and BRCA2 confer a high risk of breast and ovarian cancer1, but account for only a small fraction of breast cancer susceptibility1, 2. To find additional genes conferring...

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

Thompson, Deborah, Szabo, Csilla I., Mangion, Jon, Oldenburg, Rogier A., Odefrey, Fabrice, Seal, Sheila, ...

The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancer...

Variation in Cancer Risks, by Mutation Position, in BRCA2 Mutation Carriers

Thompson, Deborah, Easton, Douglas

Cancer occurrence in 164 families with breast/ovarian cancer and germline BRCA2 mutations was studied to evaluate the evidence for genotype-phenotype correlations. Mutations in a central portion of...

The Genetic Epidemiology of Early-Onset Epithelial Ovarian Cancer: A Population-Based Study

Stratton, John F., Thompson, Deborah, Bobrow, Lynda, Dalal, Neha, Gore, Martin, Bishop, D. T., ...

We conducted a population-based study to determine the contribution of germline mutations in known candidate genes to ovarian cancer diagnosed at age

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

Thompson, Deborah, Szabo, Csilla I., Mangion, Jon, Oldenburg, Rogier A., Odefrey, Fabrice, Seal, Sheila, ...

The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancer...

A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data

Thompson, Deborah, Easton, Douglas F., Goldgar, David E.

In many disease genes, a substantial fraction of all rare variants detected cannot yet be used for genetic counselling because of uncertainty about their association with disease. One approach to the...

Variation in Cancer Risks, by Mutation Position, in BRCA2 Mutation Carriers

Thompson, Deborah, Easton, Douglas

Cancer occurrence in 164 families with breast/ovarian cancer and germline BRCA2 mutations was studied to evaluate the evidence for genotype-phenotype correlations. Mutations in a central portion of...

The Genetic Epidemiology of Early-Onset Epithelial Ovarian Cancer: A Population-Based Study

Stratton, John F., Thompson, Deborah, Bobrow, Lynda, Dalal, Neha, Gore, Martin, Bishop, D. T., ...

We conducted a population-based study to determine the contribution of germline mutations in known candidate genes to ovarian cancer diagnosed at age

Generic Clozapine: A Cost-Saving Alternative to Brand Name Clozapine?

Gordon Tse, Deborah Thompson, Ric M. Procyshyn

As a consequence of its prevalence, early onset and chronicity, schizophrenia imposes clinical and economic impediments to healthcare practitioners and society alike. Among the many antipsychotics...