{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Cancer Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001006532"],"host":["EGA"],"description":["EGA study EGAS00001006532"],"dataset_title":["The BEACCON study: tumour sequencing"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["Breast Carcinoma, Human Mammary Neoplasm, primary breast cancer, Carcinoma, malignant tumor of the breast, Breast Carcinomas, Materials, \"breast neoplasm\" EXACT [MTH:120], Neoplasms, mammary neoplasm, Mammary Cancers, Gene, Human Mammary Neoplasms, Tumor, \"breast tumor\" EXACT [NCI2004_11_17:C2910], Cistrons, Human, Breast Malignant Neoplasm, Breast Malignant Tumor, \"neoplasm of breast (disorder)\" EXACT [SNOMEDCT_2005_07_31:126926005], Mammary Carcinomas, Breast Tumor, Neoplasm, Human Mammary Carcinoma, \"mammary tumor\" EXACT [CSP2005:2016-0671], Genetic Materials, NOS, breast tumor, cancer of the breast, Malignant Neoplasm of Breast, Carcinomas, BC, Mammary Neoplasms, malignant neoplasm of breast, Human Mammary, Breast Neoplasm, Genetic, Mammary Neoplasm, Mammary Carcinoma, Human Mammary Carcinomas, Cancers, \"mammary neoplasm\" RELATED [], Cancer of the Breast, breast cancer, cancer of breast, Material, Malignant Tumor of Breast, Mammary, Mammary Cancer, Breast Tumors, Breast Cancer, Breast Malignant Tumors, Cancer of Breast, Cistron, Genetic Material., Breast, mammary cancer, cancer, mammary tumor, Breast Malignant Neoplasms, breast, Tumors, Cancer"],"description_synonyms":["mamma, RNF53, RGD1304759, mammary region, hereditary breast ovarian cancer, Breasts, spnD, Materials, Rad51l2, postnatal development., single-organism developmental process, BRCA1, BRCA2, Lactiferous gland, BRCAI, CG2412, Gene, PSCP, growth and development, Loss of, PPP1R53, Brustdruese, Cistrons, glandula mammaria, Concept, Allelic Losses, development, DmelCG2412, Role Concept, Roles, Lobe of mammary gland, Heterozygosity, Familiar breast and Ovarian cancer syndrome, Role, IRIS, F4L23.21, Concepts, Genetic Materials, DmelCG31069, BROVCA3, BROVCA1, BC066140, Dm CG2412, Genetic Material, CG31069, RGD1563765, susceptibility, R51H3, Heterozygosity Loss, Genetic, BRCC1, Spn-D, Lobe of breast, mammary part of chest, postnatal growth, PNCA4, INSDC_feature:gene, 4732427B05, spndD, FANCS, PNCA3, ATRAD51C, RAS associated with diabetes protein 51C, FANCO, FANCN, Material, Role Concepts, Cistron, BcDNA:RE19845, RAD51L2, Allelic Loss, growth, breast, rad51C"],"additional_accession":[]},"is_claimable":false,"name":"Somatic Inactivation of Breast Cancer Predisposition Genes in Tumours Associated with Pathogenic Germline Variants","description":"Breast cancers (BC) from susceptibility gene carriers, including BRCA1/2, PALB2 and RAD51C, have been shown to have bi-allelic loss in the respective genes and be associated with triple-negative (TN) BC and distinctive somatic mutational signatures. Tumour sequencing thus presents an orthogonal approach to assess the role of candidate genes in BC development.","dates":{"updated":"2022-09-23 09:28:27"},"accession":"EGAS00001006532","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001009299","EGAC00001002829"]}}