A5044648110- DNA Repair Mechanisms
- PARP inhibition in cancer therapy
- CRISPR and Genetic Engineering
- Ubiquitin and proteasome pathways
- BRCA gene mutations in cancer
- Ovarian cancer diagnosis and treatment
- Carcinogens and Genotoxicity Assessment
- Cancer-related Molecular Pathways
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Microtubule and mitosis dynamics
- Genetic factors in colorectal cancer
- Bladder and Urothelial Cancer Treatments
- Epigenetics and DNA Methylation
- Colorectal and Anal Carcinomas
- Advanced Breast Cancer Therapies
- Erythropoietin and Anemia Treatment
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Erythrocyte Function and Pathophysiology
- Cancer Immunotherapy and Biomarkers
- DNA and Nucleic Acid Chemistry
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Pancreatic and Hepatic Oncology Research
- Cytokine Signaling Pathways and Interactions
Harvard University
2016-2025
Dana-Farber Cancer Institute
2016-2025
Brigham and Women's Hospital
1997-2024
Broad Institute
2017-2024
Dana-Farber Brigham Cancer Center
2010-2023
Center for Cancer Research
1993-2023
American Cancer Society
2021
Boston Children's Hospital
1983-2019
Boston University
2001-2016
Pennsylvania State University
2013
Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or corresponding subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B FA-D1 patients biallelic mutations in BRCA2 express truncated proteins. Functional complementation of fibroblasts with wild-type complementary DNA restores MMC resistance. Our results link six cloned...
Immune checkpoint inhibitor therapy has shown benefit in various cancers, but their potential endometrial cancer (EC) is unknown.Prediction of neoantigen load was performed using sequencing data from the Cancer Genome Atlas set. Evaluation tumor-infiltrating lymphocytes (TILs) and PD-1 PD-L1 expression 63 patients with EC referred to our institution. The predicted median (range) (predicted neoepitopes per sample) proportional mutational load: highest ultramutated polymerase e (POLE) tumors...
Cisplatin-based chemotherapy is the standard of care for patients with muscle-invasive urothelial carcinoma. Pathologic downstaging to pT0/pTis after neoadjuvant cisplatin-based associated improved survival, although molecular determinants cisplatin response are incompletely understood. We performed whole-exome sequencing on pretreatment tumor and germline DNA from 50 carcinoma who received followed by cystectomy (25 "responders," 25 pT2+ "nonresponders") identify somatic mutations that...
Immune checkpoint inhibitors (e.g., anti-PD-1 and anti-PD-L1 antibodies) have demonstrated remarkable efficacy against hypermutated cancers such as melanomas lung carcinomas. One explanation for this effect is that lesions harbor more tumor-specific neoantigens stimulate recruitment of an increased number tumor-infiltrating lymphocytes (TILs), which counterbalanced by overexpression immune checkpoints PD-1 or PD-L1. Given BRCA1/2-mutated high grade serous ovarian (HGSOCs) exhibit a higher...