Loss of function of NF1 is a mechanism of acquired resistance to endocrine therapy in lobular breast cancer

التفاصيل البيبلوغرافية
العنوان: Loss of function of NF1 is a mechanism of acquired resistance to endocrine therapy in lobular breast cancer
المؤلفون: Dexter X. Jin, Steffi Oesterreich, Yuxiong Feng, Jennifer M. Atkinson, Phillip J. Stephens, Ahmed Basudan, J.S. Ross, Ryan J. Hartmaier, Ethan Sokol, Siraj M. Ali, G.M. Frampton, Piyush Gupta, Jon Chung, Jian Chen, Adrian V. Lee
المصدر: Annals of Oncology
بيانات النشر: Oxford University Press, 2018.
سنة النشر: 2018
مصطلحات موضوعية: 0301 basic medicine, Receptor, ErbB-2, Estrogen receptor, Loss of heterozygosity, immune checkpoint inhibitors, 0302 clinical medicine, Breast Tumors, Neoplasm Metastasis, skin and connective tissue diseases, Aged, 80 and over, Neurofibromin 1, lobular, Carcinoma, Ductal, Breast, Hematology, Middle Aged, Prognosis, 3. Good health, Oncology, Receptors, Estrogen, 030220 oncology & carcinogenesis, Invasive lobular carcinoma, Female, Receptors, Progesterone, medicine.drug, estrogen receptor, Adult, tumor mutational burden, Antineoplastic Agents, Hormonal, Breast Neoplasms, 03 medical and health sciences, Breast cancer, Carcinoma, medicine, Biomarkers, Tumor, Humans, breast, Aged, business.industry, Cancer, Original Articles, ctDNA, medicine.disease, body regions, Carcinoma, Lobular, 030104 developmental biology, Drug Resistance, Neoplasm, Cancer research, business, Estrogen receptor alpha, Tamoxifen, Follow-Up Studies
الوصف: Background Invasive lobular carcinoma (ILC) as a disease entity distinct from invasive ductal carcinoma (IDC) has merited focused studies of the genomic landscape, but those to date are largely limited to the assessment of early-stage cancers. Given that genomic alterations develop as acquired resistance to endocrine therapy, studies on refractory ILC are needed. Patients and methods Tissue from 336 primary-enriched, breast-biopsied ILC and 485 estrogen receptor (ER)-positive IDC and metastatic biopsy specimens from 180 ILC and 191 ER-positive IDC patients was assayed with hybrid-capture-based comprehensive genomic profiling for short variant, indel, copy number variants, and rearrangements in up to 395 cancer-related genes. Results Whereas ESR1 alterations are enriched in the metastases of both ILC and IDC compared with breast specimens, NF1 alterations are enriched only in ILC metastases (mILC). NF1 alterations are predominantly under loss of heterozygosity (11/14, 79%), are mutually exclusive with ESR1 mutations [odds ratio = 0.24, P 20 mutations/mb; P
اللغة: English
تدمد: 1569-8041
0923-7534
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05c2156dc1091bbbcd966d668940902dTest
http://europepmc.org/articles/PMC6336006Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....05c2156dc1091bbbcd966d668940902d
قاعدة البيانات: OpenAIRE