EGAGenomicsResequencinghttps://ega-archive.org/studies/EGAS00001004182EGAEGA study EGAS00001004182Targeted sequencing data of breast tumors with germline BRCA1/2 mutationsEGArestrictedmamma, RNF53, mammary region, hereditary breast ovarian cancer, Breasts, BRCC1, BRCA1, BRCA2, Lobe of mammary gland, Familiar breast and Ovarian cancer syndrome, Lobe of breast, mammary part of chest, IRIS, Lactiferous gland, PNCA4, BRCAI, Mutations., PSCP, BROVCA1, PPP1R53, FANCS, Brustdruese, glandula mammaria, breastRNF53, mammary region, primary breast cancer, malignant tumor of the breast, Breasts, GLM3, Neoplasms, Benign Neoplasm, DmelCG30169, mammary neoplasm, Lactiferous gland, Mammary Cancers, Human Mammary Neoplasms, Tumor, PPP1R53, Malignant, glandula mammaria, CG30169, Human, Mutations, Breast Malignant Tumor, BcDNA:SD25109, "neoplasm of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:126926005], Roles, Breast Tumor, Girls, Familiar breast and Ovarian cancer syndrome, Concepts, IRIS, "mammary tumor" EXACT [CSP2005:2016-0671], breast tumor, cancer of the breast, FANCD1, BROVCA1, BROVCA2, BC, Mammary Neoplasms, malignant neoplasm of breast, Human Mammary, FAD1, BRCC1, Malignancy, BRCC2, Mammary Neoplasm, Mammary Carcinoma, mammary part of chest, Human Mammary Carcinomas, PNCA4, FANCS, PNCA2, Cancer of the Breast, Neoplasias, cancer of breast, malignant neoplasm, Malignant Tumor of Breast, FANCB, Mammary, Mammary Cancer, Clients, FANCD, Role Concepts, Malignancies, Breast, mammary cancer, mammary tumor, Breast Malignant Neoplasms, RAB163, FACD, Tumors, Cancer, mamma, hereditary breast ovarian cancer, Breast Carcinoma, Human Mammary Neoplasm, Carcinoma, Breast Carcinomas, "breast neoplasm" EXACT [MTH:120], Malignant Neoplasm, Women's Group, BRCA1, BRCA2, Women Groups, BRCAI, PSCP, "breast tumor" EXACT [NCI2004_11_17:C2910], Brustdruese, Woman, Client, Girl, CG13583, CG13584, Concept, Breast Malignant Neoplasm, MT, Benign, Role Concept, Mammary Carcinomas, Lobe of mammary gland, Neoplasm, Role, Human Mammary Carcinoma, NOS, XRCC11, Malignant Neoplasm of Breast, Carcinomas, Breast Neoplasm, primary cancer, Women's Groups, Lobe of breast, 30169, dmbrca2, Benign Neoplasms, common, Cancers, Breast Malignant Neoplasms., "mammary neoplasm" RELATED [], malignant tumor, brca2, Malignant Neoplasms, Fancd1, AI256696, FAD, breast cancer, Patient, Breast Tumors, Breast Cancer, Breast Malignant Tumors, AW045498, Cancer of Breast, other neoplasm, cancer, Neoplasia, breastfalseTargeted sequencing of breast cancers with germline BRCA1/2 mutationsBreast cancer is the most prevalent cancer in women, where a germline predisposition plays a substantial role. However, the effects of pathogenic germline variants on accompanying breast cancers have not been fully characterized in terms of somatic alterations. We obtained tumor samples from 30 patients with pathogenic germline variants in BRCA2 (n = 25) and BRCA1 (n = 5), as well as an additional 30 patients without pathogenic germline mutations, in which somatic mutations in common breast cancer drivers and CNAs were analyzed using targeted panel sequencing.2020-09-14 09:16:44EGAS000010041829606EGAD00001005802EGAC00001001459