Research Infinity - All Articles

A sheep in wolf's clothing; a case of renal leiomyoma masquerading as hereditary leiomyomatosis and renal cell carcinoma

Introduction: Active surveillance has become a standard of care for the management of small renal masses. Decision to transition from surveillance to intervention relies on several factors including growth kinetics, histologic grade on biopsy and patient comorbidities. Management of renal masses in pregnancy presents a unique change when clinical triggers must be weighed with risk to fetus. We pre...
Posted 1 month ago

Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction

Background Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by labor-intensive traditional models of individual pre and post-test counselling. There is a need for...
Posted 1 month ago

Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”

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Posted 1 month ago

Hereditary Cancer Syndromes: Identifying and Managing High-Risk Patients

Hereditary Cancer Syndromes: Identifying and Managing High-Risk Patients...
Posted 1 month ago

Current status of inherited pancreatic cancer

Background It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary pancreatic cancer, which occurs in individuals with a known hereditary cancer syndrome caused by germline single gene mutations (e.g.,BRCA1/2,CDKN2A). The second is considered as fami...
Posted 1 month ago

Advanced adenomas may be a red flag for hereditary cancer syndromes

Background: 16–25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considered precursors to CRC. Although polyp removal prevents cancer, polypectomy does not change underlying genetic risk. Patients with isolated advanced polyps do not currently qualify for genetic testing unless they have a personal or family history of ...
Posted 1 month ago

A Gene Therapy for Hereditary Nonpolyposis Colorectal Cancer using CRISPR-Cas9 Nickase

Hereditary non-polyposis colorectal cancer (HNPCC) is an inherited disorder characterized by an increased risk of developing colorectal cancer before age 50. HNPCC is predominantly caused by genetic mutations in MLH1 and MSH2, which are involved in DNA mismatch repair. Current standard practice is to perform prophylactic colectomy, resulting in debilitating aftereffects for life. Though the geneti...
Posted 1 month ago

Hereditary leiomyomatosis and renal cell cancer syndrome

Introduction: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare autosomal dominantly inherited cancer predisposing syndrome giving rise to cutaneous and uterine leiomyomatosis, leiomyosarcoma and renal cell cancer. Patients with this syndrome harbours germline pathogenic variants in the fumarate hydratase (FH) gene.Case presentation: A 28-year-old Sri Lankan female, a prod...
Posted 1 month ago

Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature

Introduction Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-penetrance genes (e.g. BRCA1 and BRCA2, as well as moderate- and low-penetrance genes. Certain moderate...
Posted 1 month ago

Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO

Variants in hereditary cancer risk genes are frequently identified following tumor-based DNA sequencing and represent an opportunity to diagnose hereditary cancer. We implemented an automated hereditary cancer screening program in a large HMO for all patients who underwent tumor-based DNA sequencing to identify patients with hereditary cancer and determine if this approach augmented existing genet...
Posted 1 month ago