Prevalence of BRCA1 and BRCA2 Gene Mutations in Patients With Early-Onset Breast Cancer

Julian Peto, Nadine Collins, Rita Barfoot, +7

JNCI Journal of the National Cancer Institute

Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13.

Nadine Collins, Ross McManus, Richard Wooster, +7

PubMed

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

Charis Eng, Victoria Murday, S. Seal, +6

Journal of Medical Genetics

Genetic EpidemiologyImmunologyPathologyCowden SyndromeDisease Gene Identification +14

Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer.

Graham R. Bignell, Rita Barfoot, S. Seal, +3

PubMed

Tumor BiologyLkb1 GeneBreast OncologySomatic VariantSomatic Mutations +12

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

Sylviane Olschwang, David Markie, S. Seal, +22

Journal of Medical Genetics

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +15

Germline Mutations in <i>BRCA1 </i> and <i> BRCA2 </i> in Breast-Ovarian Families From a Breast Cancer Risk Evaluation Clinic

Anne‐Marie Martin, M. Anne Blackwood, Danielle Antin‐Ozerkis, +7

Journal of Clinical Oncology

Heterozygosity for mutations in the ataxia telangiectasia gene is not a major cause of radiotherapy complications in breast cancer patients

M Shayeghi, S. Seal, J. Regan, +9

British Journal of Cancer

Genome InstabilityAtaxia Telangiectasia GeneSomatic VariantBreast Cancer PatientsMedicine +8

BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers.

Helen A. Shih, Katherine L. Nathanson, S. Seal, +4

PubMed

Breast Cancer ReportingBreast OncologyGeneticsBreast Cancer FamiliesGenetic Epidemiology +15

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13

Meiko Takahashi, Elizabeth Rapley, Patrick J. Biggs, +26

Human Genetics

BiologyLinkage DisequilibriumCyld LocusCytogeneticsCylindromatosis Families +10

Psychosocial impact of testing (by linkage) for the BRCA1 breast cancer gene: An investigation of two families in the research setting

Maggie Watson, Samuel Lloyd, Rosalind A. Eeles, +7

Psycho-Oncology

Family MedicineGenetic TestingPsychosocial ImpactCancer PathologyGenetics +14