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Clinical Cancer Genetics
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Rosalind A. Eeles, Lisa J. Walker
Cancer genetics counseling aims to provide an explanation of how cancer develops (most commonly as a result of somatic mutation), the principles of genetic inheritance, an estimation of the chance that a familial cluster is due to genetic pre-disposition, information about the likely specific pre-disposition gene present, an estimation of cancer risk, options for managing the risk, and the opportunity for genetic testing.
Branching out: Specialties and subspecialties in medical genetics
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
The recognition that this and other rare inherited cancer syndromes following mendelian inheritance, the only cancer patients regularly seen until then by medical geneticists, might be relevant to the basic understanding of common cancers, led to the formation of the Cancer Families Study Group (now the Cancer Genetics Group), for which ICRF funded workers, mainly genetic nurses or counsellors, across the country. This led for the first time to regional medical genetics centres developing clinical cancer genetics as a specific interest, something which increased dramatically a decade later when the molecular basis of these familial cancers began to be discovered and especially after it was found that a subset of 5%–10% of common cancers, such as colorectal and breast cancer, also showed germline mutations, giving high risks to family members.
Personalized Medicine in Hereditary Cancer Syndromes
Published in II-Jin Kim, Cancer Genetics and Genomics for Personalized Medicine, 2017
The exponential increase in cancer genetics research in the last two decades has unraveled genetic mutations which could be inherited. The presence of these aberrations in the germline predispose an affected individual to benign or malignant tumors. These genetic aberrations often manifest early in life and typically affect children, adolescents, and young adults (AYA) in the prime of their lives. Affected individuals often have more than one malignancy. More than fifty such hereditary cancer predisposing syndromes have been identified so far. Better understanding of cancer genetics has also helped deciphering the molecular aberrations and pathways leading to cancer in hereditary cancer syndromes. In the era of targeted therapy, when several novel agents have now been approved for various malignancies, a door has opened for patients suffering from hereditary cancer syndrome. In spite of better understanding of molecular pathways in hereditary cancer syndromes, the development of targeted therapies has lagged behind in this group of patients. The rarity of these syndromes and inability to build clinical trials in rare subsets of patients and paucity of participation in clinical trials could be one possible reason behind the lack of targeted therapy development in these patients.
A brief review of the current knowledge on environmental toxicants and risk of pediatric cancers
Published in Pediatric Hematology and Oncology, 2022
Omar Shakeel, Philip J. Lupo, Simon Strong, Manish Arora, Michael E. Scheurer
Each year in the United States, more than 15,000 children and adolescents are diagnosed with cancer, which is the leading cause of disease-related mortality among youth.1 Notably, the incidence of pediatric cancers has steadily increased (approximately 0.8% per year) since 1975, resulting in a 45% increase between 1975 and 2018 (https://seer.cancer.gov/explorer/). Through large-scale sequencing efforts, we now know that approximately 10% of all cancers in children are caused by an inherited pathogenic variant.2 Additionally, recent advances in cancer genetics have led to a better understanding and improved molecular classification of some of these cancers, which has led to improved survival in some instances. However, for most children, the underlying etiologies of their cancers remain largely unknown, suggesting that exogenous factors are accounting for an increasing proportion of cases.1
Nivolumab: an investigational agent for the treatment of biliary tract cancer
Published in Expert Opinion on Investigational Drugs, 2021
Alessandro Di Federico, Alessandro Rizzo, Angela Dalia Ricci, Giorgio Frega, Andrea Palloni, Simona Tavolari, Giovanni Brandi
Given the results that have been obtained moving ICI therapy from pretreated to previously untreated patients, as combination with chemotherapy or alone in patients selected for high PD-L1 expression, this is, in our opinion, not a disappointing starting point for BTC. As for NSCLC and other malignancies, the activity of immunotherapy may be enhanced [67] by the simultaneous administration of other drugs, such as chemotherapy, targeted agents, or other immunotherapeutic agents, as seen in the previously described trial testing the combination between nivolumab and ipilimumab; in fact, in this phase II trial, nivolumab plus ipilimumab showed an ORR of 23% in pretreated BTC patients unselected for PD-L1 expression or other predictive factor of response to immunotherapy [61]. This is not negligible, as in NSCLC the ORR of patients treated with first-line nivolumab and ipilimumab combination was almost doubled in PD-L1 50% (ORR 44.4%) if compared with PD-L1 negative patients (ORR 27.3%) [68]. Therefore, selecting BTC patients accordingly to PD-L1 expression and using combination treatments has the potential to represent an effective strategy. Moreover, as we learn more about cancer genetics and its influence on the microenvironment, the rationale for novel combinations emerges consequently.
Response of metastatic mouse invasive lobular carcinoma to mTOR inhibition is partly mediated by the adaptive immune system
Published in OncoImmunology, 2020
Sjoerd Klarenbeek, Chris W. Doornebal, Sjors M. Kas, Nicola Bonzanni, Jinhyuk Bhin, Tanya M. Braumuller, Ingrid van der Heijden, Mark Opdam, Philip C. Schouten, Kelly Kersten, Roebi de Bruijn, Daniel Zingg, Julia Yemelyanenko, Lodewyk F.A. Wessels, Karin E. de Visser, Jos Jonkers
Mutation and clinical information files were downloaded from the cBioPortal for Cancer Genomics (http://www.cbioportal.org/) for eleven breast cancer studies: Breast Cancer – METABRIC,48,49 Breast Invasive Carcinoma – British Columbia,50 Breast Invasive Carcinoma – Broad,51 Breast Invasive Carcinoma – Sanger,52 Breast cancer patient xenografts – British Columbia,53 Mutational profiles of metastatic breast cancer – France,54 The Metastatic Breast Cancer Project (Provisional, April 2018), Breast Invasive Carcinoma – TCGA,15 Breast Invasive Carcinoma – TCGA,11 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) and Breast Invasive Carcinoma (TCGA, Provisional). Duplicate samples and samples of cancer type ‘Breast Mixed Ductal and Lobular Carcinoma’ were excluded. This left 1,759 samples of which 200 were of type Breast Invasive Lobular Carcinoma (ILC). Mutations in the following five genes were compared between ILC and non-ILC samples: PIK3CA, PTEN, AKT1, AKT2, PIK3R1, and MTOR. A Fisher’s exact test was performed to evaluate statistical significance.