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Mutational signatures of ionizing radiation in second malignancies.
(NATURE PUBLISHING GROUP, 2016-09-12)
Ionizing radiation is a potent carcinogen, inducing cancer through DNA damage. The signatures of mutations arising in human tissues following in vivo exposure to ionizing radiation have not been documented. Here, we searched ...
Quality of life with talazoparib after platinum or multiple cytotoxic non-platinum regimens in patients with advanced breast cancer and germline BRCA1/2 mutations: patient-reported outcomes from the ABRAZO phase 2 trial.
(ELSEVIER SCI LTD, 2018-11-01)
BACKGROUND: Talazoparib (1 mg/day) exhibited promising efficacy and safety in patients with advanced breast cancer during ABRAZO (NCT02034916); this study evaluated patient-reported outcomes (PROs). PATIENTS AND METHODS: ...
Prostate Cancer Germline Variations and Implications for Screening and Treatment.
(COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2018-09-04)
Prostate cancer (PCa) is a highly heritable disease, and rapid evolution of sequencing technologies has enabled marked progression of our understanding of its genetic inheritance. A complex polygenic model that involves ...
Constitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report.
(BMC, 2017-11-06)
BACKGROUND: Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship from myeloma is very rare and despite advances in its treatment the disease is generally ...
Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer.
(AMER ASSOC CANCER RESEARCH, 2017-11-01)
Purpose: Resistance to platinum-based chemotherapy or PARP inhibition in germline BRCA1 or BRCA2 mutation carriers may occur through somatic reversion mutations or intragenic deletions that restore BRCA1 or BRCA2 function. ...
Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity.
(NATURE PUBLISHING GROUP, 2016-05-10)
BACKGROUND: Numerous germline single-nucleotide polymorphisms increase susceptibility to prostate cancer, some lying near genes involved in cellular radiation response. This study investigated whether prostate cancer ...
Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.
(NATURE PUBLISHING GROUP, 2017-03-30)
Somatic cells acquire mutations throughout the course of an individual's life. Mutations occurring early in embryogenesis are often present in a substantial proportion of, but not all, cells in postnatal humans and thus ...
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
(AMER SOC HEMATOLOGY, 2016-11-10)
Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where ...
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
(NATURE PUBLISHING GROUP, 2016-06-22)
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ...
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
(SPRINGERNATURE, 2023-11-01)
BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant ...