Cancer incidence in relatives of British Fanconi Anaemia patients (2008)
Tischkowitz, Marc, Easton, Douglas F, Ball, Jan, Hodgson, Shirley V, Mathew, Christopher G
Abstract Background Fanconi anemia (FA) is an autosomal recessive DNA repair disorder with affected individuals having a high risk of developing acute myeloid leukaemia and certain solid tumours....
Azzato, Elizabeth M, Driver, Kristy E, Lesueur, Fabienne, Shah, Mitul, Greenberg, David, Easton, Douglas F, ...
Abstract Introduction Somatic alterations have been shown to correlate with breast cancer prognosis and survival, but less is known about the effects of common inherited genetic variation. Of...
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...
Chenevix-Trench, Georgia, Milne, Roger L, Antoniou, Antonis C, Couch, Fergus J, Easton, Douglas F, Goldgar, David E, ...
Abstract BRCA1 and BRCA2 mutations exhibit variable penetrance that is likely to be accounted for, in part, by other genetic factors among carriers. However, studies aimed at identifying these...
Baynes, Caroline, Healey, Catherine S, Pooley, Karen A, Scollen, Serena, Luben, Robert N, Thompson, Deborah J, ...
Abstract Introduction Certain rare, familial mutations in the ATM , BRCA1 , BRCA2 , CHEK2 or TP53 genes increase susceptibility to breast cancer but it has not, until now, been clear whether common...
Association between Common Variation in 120 Candidate Genes and Breast Cancer Risk (2007)
Jonathan Tyrer, Alison M. Dunning, Douglas F. Easton
Association studies in candidate genes have been widely used to search for common low penetrance susceptibility alleles, but few definite associations have been established. We have conducted...
Association between common variation in 120 candidate genes and breast cancer risk (2007)
Paul D. Pharoah, Jonathan Tyrer, Alison M. Dunning, Douglas F. Easton, Bruce A Ponder, SEARCH Study Team
Association studies in candidate genes have been widely used to search for common low penetrance susceptibility alleles for breast cancer, but few definite associations have been established....
Brohet, Richard M, Goldgar, David E, Easton, Douglas F, Antoniou, Antonis C, Andrieu, Nadine, Chang-Claude, Jenny, ...
Abstract is not available
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...
Parity and breast cancer risk among BRCA1and BRCA2mutation carriers (2006)
Antoniou, Antonis C, Shenton, Andrew, Maher, Eamonn R, Watson, Emma, Woodward, Emma, Lalloo, Fiona, ...
Abstract Introduction Increasing parity and age at first full-term pregnancy are established risk factors for breast cancer in the general population. However, their effects among BRCA1 and BRCA2...
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...
A Genome wide linkage search for breast cancer susceptibility genes (2006)
Smith, Paula, McGuffog, Lesley, Easton, Douglas F., Mann, Graham J., Pupo, Gulietta M., Newman, Beth, ...
Mutations in known breast cancer susceptibility genes account for a minority of the familial aggregation of the disease. To search for further breast cancer susceptibility genes, we performed a...
A Genome wide linkage search for breast cancer susceptibility genes (2006)
Smith, Paula, McGuffog, Lesley, Easton, Douglas F., Mann, Graham J., Pupo, Gulietta M., Newman, Beth, ...
Mutations in known breast cancer susceptibility genes account for a minority of the familial aggregation of the disease. To search for further breast cancer susceptibility genes, we performed a...
Andrieu, Nadine, Goldgar, David E., Easton, Douglas F., Rookus, Matti, Brohet, Richard, Antoniou, Antonis C., ...
Multiparity, young age at first childbirth, and breast-feeding are associated with a reduced risk of breast cancer in the general population. The breast cancer predisposition gene, BRCA1, regulates...
A genome wide linkage search for breast cancer susceptibility genes (2006)
Smith, Paula, McGuffog, Lesley, Easton, Douglas F., Mann, Graham J., Pupo, Gulietta M., Newman, Beth, ...
Mutations in known breast cancer susceptibility genes account for a minority of the familial aggregation of the disease. To search for further breast cancer susceptibility genes, we performed a...
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers (2006)
Mitchell, Gillian, Antoniou, Antonis C., Warren, Ruth, Peock, Susan, Brown, Judith, Davies, Russell, ...
High breast density as measured on mammograms is a strong risk factor for breast cancer in the general population, but its effect in carriers of germline BRCA1 and BRCA2 mutations is unclear. We...
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers (2006)
Mitchell, Gillian, Antoniou, Antonis C., Warren, Ruth, Peock, Susan, Brown, Judith, Davies, Russell, ...
High breast density as measured on mammograms is a strong risk factor for breast cancer in the general population, but its effect in carriers of germline BRCA1 and BRCA2 mutations is unclear. We...
A Genome wide linkage search for breast cancer susceptibility genes (2006)
Smith, Paula, McGuffog, Lesley, Easton, Douglas F., Mann, Graham J., Pupo, Gulietta M., Newman, Beth, ...
Mutations in known breast cancer susceptibility genes account for a minority of the familial aggregation of the disease. To search for further breast cancer susceptibility genes, we performed a...
Antoniou, Antonis C, Durocher, Francine, Smith, Paula, Simard, Jacques, Easton, Douglas F
Abstract Introduction Several genetic risk models for breast and ovarian cancer have been developed, but their applicability to specific populations has not been evaluated. We used data from...
Benusiglio, Patrick R, Lesueur, Fabienne, Luccarini, Craig, McIntosh, Joan, Luben, Robert N, Smith, Paula, ...
Abstract Background EMSY could be involved in low-level susceptibility to breast and ovarian cancer. Gene amplification is seen in a proportion of breast and ovarian tumours and correlates with poor...
Benusiglio, Patrick R, Lesueur, Fabienne, Luccarini, Craig, Conroy, Donald M, Shah, Mitul, Easton, Douglas F, ...
Abstract Introduction About two-thirds of the excess familial risk associated with breast cancer is still unaccounted for and may be explained by multiple weakly predisposing alleles. A gene thought...
Spurdle, Amanda B, Antoniou, Antonis C, Duffy, David L, Pandeya, Nirmala, Kelemen, Livia, Chen, Xiaoqing, ...
Abstract Introduction The androgen receptor ( AR ) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with...
Schutte, Mieke, Seal, Sheila, Barfoot, Rita, Meijers-Heijboer, Hanne, Wasielewski, Marijke, Evans, D. Gareth, ...
We recently reported that a sequence variant in the cell-cycle–checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer–susceptibility allele in noncarriers of BRCA1 or BRCA2...
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition (2003)
Seal, Sheila, Barfoot, Rita, Jayatilake, Hiran, Smith, Paula, Renwick, Anthony, Bascombe, Linda, ...
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure, and susceptibility to cancer. FA has eight known complementation...
Familial risks of breast cancer (2002)
Abstract A recent analysis by the Collaborative Group on Hormonal Factors in Breast Cancer has provided the most precise quantification to date of the familial risks of breast cancer. The familial...
Sunil Lakhani, Jocelyne Jacquemier, Thomas J. Anderson, Peter P. Osin, Lesley McGuffog, ...
This is one of a series of papers published on the pathology of familial breast cancers and still represents the largest experience in the world in this area. It has demonstrated a particular...
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...
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...
Sunil Lakhani, Jocelyne Jacquemier, Thomas J. Anderson, Peter P. Osin, Lesley McGuffog, ...
This is one of a series of papers published on the pathology of familial breast cancers and still represents the largest experience in the world in this area. It has demonstrated a particular...
BRCA1 and BRCA2 mutations in a population-based study of male breast cancer (2001)
Basham, Victoria M, Lipscombe, Julian M, Ward, Joanna M, Gayther, Simon A, Ponder, Bruce AJ, Easton, Douglas F, ...
Abstract Background The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of...
How many more breast cancer predisposition genes are there? (1999)
No abstract available.
BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
Basham, Victoria M, Lipscombe, Julian M, Ward, Joanna M, Gayther, Simon A, Ponder, Bruce AJ, Easton, Douglas F, ...
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...
Familial risks of breast cancer
A recent analysis by the Collaborative Group on Hormonal Factors in Breast Cancer has provided the most precise quantification to date of the familial risks of breast cancer. The familial relative...
A survey of homozygous deletions in human cancer genomes
Cox, Charles, Bignell, Graham, Greenman, Chris, Stabenau, Arne, Warren, William, Stephens, Philip, ...
Homozygous deletions of recessive cancer genes and fragile sites are known to occur in human cancers. We identified 281 homozygous deletions in 636 cancer cell lines. Of these deletions, 86 were...
Spurdle, Amanda B, Antoniou, Antonis C, Duffy, David L, Pandeya, Nirmala, Kelemen, Livia, Chen, Xiaoqing, ...
Benusiglio, Patrick R, Lesueur, Fabienne, Luccarini, Craig, Conroy, Donald M, Shah, Mitul, Easton, Douglas F, ...
Benusiglio, Patrick R, Lesueur, Fabienne, Luccarini, Craig, McIntosh, Joan, Luben, Robert N, Smith, Paula, ...
Cui, Jisheng, Antoniou, Antonis C., Dite, Gillian S., Southey, Melissa C., Venter, Deon J., Easton, Douglas F., ...
Mutations in BRCA1 and BRCA2 that cause a dominantly inherited high risk of female breast cancer seem to explain only a small proportion of the aggregation of the disease. To study the possible...
Gayther, Simon A., Russell, Paul, Harrington, Patricia, Antoniou, Antonis C., Easton, Douglas F., Ponder, Bruce A. J.
To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affected individual in each of 112 families...
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
The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor
Nathanson, Katherine L., Kanetsky, Peter A., Hawes, Rachel, Vaughn, David J., Letrero, Richard, Tucker, Kathy, ...
Testicular germ cell tumor (TGCT) is the most common cancer in young men. Despite a considerable familial component to TGCT risk, no genetic change that confers increased risk has been substantiated...
Statistical Analysis of Pathogenicity of Somatic Mutations in Cancer
Greenman, Chris, Wooster, Richard, Futreal, P. Andrew, Stratton, Michael R., Easton, Douglas F.
Recent large-scale sequencing studies have revealed that cancer genomes contain variable numbers of somatic point mutations distributed across many genes. These somatic mutations most likely include...
BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
Basham, Victoria M, Lipscombe, Julian M, Ward, Joanna M, Gayther, Simon A, Ponder, Bruce AJ, Easton, Douglas F, ...
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...
Familial risks of breast cancer
A recent analysis by the Collaborative Group on Hormonal Factors in Breast Cancer has provided the most precise quantification to date of the familial risks of breast cancer. The familial relative...
A survey of homozygous deletions in human cancer genomes
Cox, Charles, Bignell, Graham, Greenman, Chris, Stabenau, Arne, Warren, William, Stephens, Philip, ...
Homozygous deletions of recessive cancer genes and fragile sites are known to occur in human cancers. We identified 281 homozygous deletions in 636 cancer cell lines. Of these deletions, 86 were...
Spurdle, Amanda B, Antoniou, Antonis C, Duffy, David L, Pandeya, Nirmala, Kelemen, Livia, Chen, Xiaoqing, ...
Benusiglio, Patrick R, Lesueur, Fabienne, Luccarini, Craig, Conroy, Donald M, Shah, Mitul, Easton, Douglas F, ...
Schutte, Mieke, Seal, Sheila, Barfoot, Rita, Meijers-Heijboer, Hanne, Wasielewski, Marijke, Evans, D. Gareth, ...
We recently reported that a sequence variant in the cell-cycle–checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer–susceptibility allele in noncarriers of BRCA1 or BRCA2...
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...
Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N. A., Tavtigian, Sean V., Couch, Fergus J.
Many sequence variants in predisposition genes are of uncertain clinical significance, and classification of these variants into high- or low-risk categories is an important problem in clinical...
Benusiglio, Patrick R, Lesueur, Fabienne, Luccarini, Craig, McIntosh, Joan, Luben, Robert N, Smith, Paula, ...
Cui, Jisheng, Antoniou, Antonis C., Dite, Gillian S., Southey, Melissa C., Venter, Deon J., Easton, Douglas F., ...
Mutations in BRCA1 and BRCA2 that cause a dominantly inherited high risk of female breast cancer seem to explain only a small proportion of the aggregation of the disease. To study the possible...
The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor
Nathanson, Katherine L., Kanetsky, Peter A., Hawes, Rachel, Vaughn, David J., Letrero, Richard, Tucker, Kathy, ...
Testicular germ cell tumor (TGCT) is the most common cancer in young men. Despite a considerable familial component to TGCT risk, no genetic change that confers increased risk has been substantiated...
Gayther, Simon A., Russell, Paul, Harrington, Patricia, Antoniou, Antonis C., Easton, Douglas F., Ponder, Bruce A. J.
To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affect