Clinical features of prostate cancer by polygenic risk score
AbstractGenome-wide association studies have identified more than 290 single nucleotide variants (SNVs) associated with prostate cancer. These SNVs can be combined to generate a Polygenic Risk Score (PRS), which estimates an individual ’s risk to develop prostate cancer. Identifying individuals at higher risk for prostate cancer using PRS could allow for personalized screening recommendations, improve current screening tools, and potentially result in improved survival rates, but more research is needed before incorporating them into clinical use. Our study aimed to investigate associations between PRS and clinical facto...
Source: Familial Cancer - April 15, 2024 Category: Cancer & Oncology Source Type: research
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer
AbstractPancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related deaths and is associated with a poor prognosis. The majority of these cancers are detected at a late stage, contributing to the bad prognosis. This underscores the need for novel, enhanced early detection strategies to improve the outcomes. While population-based screening is not recommended due to the relatively low incidence of PDAC, surveillance is recommended for individuals at high risk for PDAC due to their increased incidence of the disease. However, the outcomes of pancreatic cancer surveillance in high-risk individuals are not sor...
Source: Familial Cancer - April 15, 2024 Category: Cancer & Oncology Source Type: research
Understanding familial risk of pancreatic ductal adenocarcinoma
AbstractPancreatic ductal adenocarcinoma (PDAC) is a deadly disease that is the result of an accumulation of sequential genetic alterations. These genetic alterations can either be inherited, such as pathogenic germline variants that are associated with an increased risk of cancer, or acquired, such as somatic mutations that occur during the lifetime of an individual. Understanding the genetic basis of inherited risk of PDAC is essential to advancing patient care and outcomes through improved clinical surveillance, early detection initiatives, and targeted therapies. In this review we discuss factors associated with an inc...
Source: Familial Cancer - April 12, 2024 Category: Cancer & Oncology Source Type: research
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes
This study examined effects of EGFR and COX pathway inhibition in organoid cultures derived from uninvolved colon and polyps of SPS patients. We also compared with organoids representing the hereditary gastrointestinal syndromes, Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). Eighteen total organoid colon cultures were generated from uninvolved colon and polyps in SPS, FAP, LS, and non-syndromic screening colonoscopy patients.BRAF andKRAS mutation status was determined for each culture. Erlotinib (EGFR inhibitor) and sulindac (COX inhibitor) were applied individually and in combination. A 44-target gene cust...
Source: Familial Cancer - April 12, 2024 Category: Cancer & Oncology Source Type: research
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women
We examined the impact of a web-based decision aid (DA) onBRCA1/2 genetic testing intention/completion among Orthodox Jewish women. We conducted a single-arm pilot study among 50 Orthodox Jewish women who were given access to a web-based DA entitledRealRisks and administered serial surveys at baseline and 1 and 6 months after exposure to the DA. Descriptive statistics were conducted for baseline characteristics and study measures. Comparisons were made to assess changes in study measures over time. Fifty Orthodox Jewish women enrolled in the study with a mean age of 43.9 years (standard deviation [SD] 14.6), 70% Modern Ort...
Source: Familial Cancer - April 12, 2024 Category: Cancer & Oncology Source Type: research
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals
AbstractIndividuals at high risk of developing pancreatic ductal adenocarcinoma are eligible for surveillance within research programs. These programs employ periodic imaging in the form of magnetic resonance imaging/magnetic resonance cholangiopancreatography or endoscopic ultrasound for the detection of early cancer or high-grade precursor lesions. This narrative review discusses the role of endoscopic ultrasound within these surveillance programs. It details its overall strengths and limitations, yield, burden on patients, and how it compares to magnetic resonance imaging. Finally, recommendations are given when and how...
Source: Familial Cancer - April 4, 2024 Category: Cancer & Oncology Source Type: research
Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC)
AbstractPancreatic ductal adenocarcinoma (PDAC) is often diagnosed at an advanced stage, resulting in poor prognosis and low 5-year survival rates. While early evidence suggests increased long-term survival in those with screen-detected resectable cancers, surveillance imaging is currently only recommended for individuals with a lifetime risk of PDAC ≥ 5%. Identification of risk factors for PDAC provides opportunities for early detection, risk reducing interventions, and targeted therapies, thus potentially improving patient outcomes. Here, we summarize modifiable and non-modifiable risk factors for PDAC. We review ...
Source: Familial Cancer - April 4, 2024 Category: Cancer & Oncology Source Type: research
Editorial for familial cancer: cascade genetic testing
(Source: Familial Cancer)
Source: Familial Cancer - April 1, 2024 Category: Cancer & Oncology Source Type: research
Clinician perspectives on policy approaches to genetic risk disclosure in families
In this study, we conducted semi-structured interviews with clinicians from Belgian clinical genetics centers to gain insight into their perspectives on policy approaches to the disclosure of genetic risk within families. Using real-world examples of legislation and court rulings from France, Australia, and the UK, we explored clinician viewpoints on the roles and responsibilities of both patients and clinicians in the family communication process. Clinicians expressed confusion regarding what was legally permissible regarding contacting at-risk relatives. While there was a consensus among participants that patients have a...
Source: Familial Cancer - March 28, 2024 Category: Cancer & Oncology Source Type: research
Challenges and opportunities for Lynch syndrome cascade testing in the United States
AbstractLynch syndrome is an underdiagnosed genetic condition that increases lifetime colorectal, endometrial, and other cancer risk. Cascade testing in relatives is recommended to increase diagnoses and enable access to cancer prevention services, yet uptake is limited due to documented multi-level barriers. Individual barriers such as feelings of fear, guilt, and anxiety and limited knowledge about Lynch syndrome as well as interpersonal barriers including complex family dynamics and language barriers limit family communication about Lynch syndrome and prevent uptake of genetic screening for relatives. Organizational and...
Source: Familial Cancer - March 28, 2024 Category: Cancer & Oncology Source Type: research
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs
AbstractGermline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing, or the testing of at-risk relatives, is extremely promising as it offers genetic testing and potentially life-saving risk-reduction strategies to a population exponentially enriched for the risk of carrying a cancer-associated pathogenic variant. However, many relatives do not complete cascade testing due to barriers that span individual, relationship, healthcare community, and societal/policy domains. We have reviewed the published research on cascade testing. Our aim is to evaluate barriers ...
Source: Familial Cancer - March 26, 2024 Category: Cancer & Oncology Source Type: research
The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals
AbstractScreening programs for early detection and treatment of pancreatic cancer (PC) and its precursor lesions are increasingly implemented worldwide to reduce disease-specific lethality. Given the relatively low prevalence of the disease, the ideal target of such approaches is an enriched cohort of individuals harboring a lifetime risk of developing PC significantly higher compared to the general population, given either a substantial aggregation of PC cases in their family (i.e. familial pancreatic cancer) or a genomic landscape enriched with pathogenic variants associated with pancreatic carcinogenesis (i.e. mutation ...
Source: Familial Cancer - March 16, 2024 Category: Cancer & Oncology Source Type: research
Progress report: Peutz –Jeghers syndrome
AbstractPeutz –Jeghers syndrome is a rare, autosomal dominant polyposis syndrome. Presenting with a remarkable phenotype including development of characteristic gastrointestinal polyps, mucocutaneous pigmentations, and an increased risk of cancer, the syndrome has been subject to many studies concerning the nat ural course of disease. In most patients, pathogenic germline variants are detected in theSTK11 gene including cases of mosaicism and structural variants. Yet, studies assessing the effect of surveillance, understanding of cancer development, as well as clinical studies evaluating chemoprevention are lacking. In a...
Source: Familial Cancer - March 16, 2024 Category: Cancer & Oncology Source Type: research
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre
We present time trends (1990 –2020) of identification of index cases with germline CPG variants and numbers of subsequent cascade tests, forBRCA1,BRCA2, and the Lynch genes (MLH1,MSH2,MSH6 andPMS2). ForBRCA1/2 there was a definite increase in the proportion of index cases with ovarian cancer only and pre-symptomatic index tests both doubling from 16 to 32% and 3.2 to > 8% respectively. A mean of 1.73–1.74 additional family tests were generated for eachBRCA1/2 index case within 2 years. Overall close to one positive cascade test was generated per index case resulting in > 1000 risk reducing surgery ope...
Source: Familial Cancer - March 13, 2024 Category: Cancer & Oncology Source Type: research
In Memoriam: Steffen B ülow (1943–2023)
(Source: Familial Cancer)
Source: Familial Cancer - March 13, 2024 Category: Cancer & Oncology Source Type: research
