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3. Identification of new breast cancer predisposition genes via whole exome sequencing

Author

Southey MC, Park DJ, Lesueur F, Odefrey F, Nguyen-Dumont T, Hammet F, Neuhausen SL, John EM, Andrulis IL, Chenevix-Trench G, Baglietto L, Le Calvez-Kelm F, Pertesi M, Lonie A, Pope B, Sinilnikova O, Tsimiklis H, Giles GG, Hopper JL, Tavtigian SV, and Goldgar DE

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
Published
2012
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5. Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

Author

Park, D.J., Lesueur, F., Nguyen-Dumont, T., Pertesi, M., Odefrey, F., Hammet, F., Neuhausen, S.L., John, E.M., Andrulis, I.L., Terry, M.B., Daly, M., Buys, S., Calvez-Kelm, F. le, Lonie, A., Pope, B.J., Tsimiklis, H., Voegele, C., Hilbers, F.M., Hoogerbrugge, N., Barroso, A., Osorio, A., Giles, G.G., Devilee, P., Benitez, J., Hopper, J.L., Tavtigian, S.V., Goldgar, D.E., Southey, M.C., Breast Canc Family Registry, and Kathleen Cuningham Fdn Consortium

Subjects
Adult, Male, Risk, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Population, Breast Neoplasms, Biology, medicine.disease_cause, Germline mutation, Breast cancer, Report, Genetics, medicine, Humans, Missense mutation, Exome, Genetic Predisposition to Disease, Genetics(clinical), Homologous Recombination, education, Genetics (clinical), education.field_of_study, Mutation, Massive parallel sequencing, Hereditary cancer and cancer-related syndromes [ONCOL 1], Middle Aged, medicine.disease, Pedigree, DNA-Binding Proteins, Case-Control Studies, RAD51C, Female
Abstract

Item does not contain fulltext An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants in 1,120 controls (the severity grading was p < 0.02). We also performed additional mutation screening in 689 multiple-case families. We identified ten breast-cancer-affected families with protein-truncating or probably deleterious rare missense variants in XRCC2. Our identification of XRCC2 as a breast cancer susceptibility gene thus increases the proportion of breast cancers that are associated with homologous recombination-DNA-repair dysfunction and Fanconi anemia and could therefore benefit from specific targeted treatments such as PARP (poly ADP ribose polymerase) inhibitors. This study demonstrates the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases.

Published
2012
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6. Genetic aberrations detected by comparative genomic hybridisation in vulvar cancers.

Author

Allen, D.G., Hutchins, A.-M., Hammet, F., White, D.J., Scurry, J.P., Tabrizi, S.N., Garland, S.M., and Armes, J.E.

Subjects
CHROMOSOMES, PAPILLOMAVIRUSES, VULVAR cancer
Abstract

Squamous cell carcinoma of the vulva is a disease of significant clinical importance, which arises in the presence or absence of human papillomavirus. We used comparative genomic hybridisation to document non-random chromosomal gains and losses within human papillomavirus positive and negative vulvar cancers. Gain of 3q was significantly more common in human papillomavirus-positive cancers compared to human papillomavirus-negative cancers. The smallest area of gain was 3q22-25, a chromosome region which is frequently gained in other human papillomavirus-related cancers. Chromosome 8q was more commonly gained in human papillomavirus-negative compared to human papillomavirus-positive cancers. 8q21 was the smallest region of gain, which has been identified in other, non-human papillomavirus-related cancers. Chromosome arms 3p and 11q were lost in both categories of vulvar cancer. This study has demonstrated chromosome locations important in the development of vulvar squamous cell carcinoma. Additionally, taken together with previous studies of human papillomavirus-positive cancers of other anogenital sites, the data indicate that one or more oncogenes important in the development and progression of human papillomavirus-induced carcinomas are located on 3q. The different genetic changes seen in human papillomavirus-positive and negative vulvar squamous cell carcinomas support the clinicopathological data indicating that these are different cancer types. [ABSTRACT FROM AUTHOR]

Published
2002
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