Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy
AbstractHereditary Cancer makes up around 5 –10% of all cancers. It is important to diagnose hereditary cancer in a timely fashion, as not only do patients require long-term care from a young age, but their relatives also require management. The main approach to capture at-risk relatives is cascade testing. It involves genetic testing of re latives of the first detected carrier of a pathogenic variant in a family i.e. the proband. The current standard of care for cascade testing is a patient-mediated approach. Probands are then advised to inform and encourage family members to undergo genetic testing. In Singapore, casca...
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
Surgical aspects related to hereditary pancreatic cancer
AbstractThe goal of surveillance programs for individuals at risk (IAR) from familial pancreatic cancer (FPC) families or families with other inherited tumor syndromes predisposing to the development of pancreatic adenocarcinoma (PDAC), such as hereditary pancreatitis or Peutz-Jeghers syndrome, is the dectection and consecutive curative resection of early PDAC or even better its high-grade precursor lesions. Although the indication for surgery is quite established, the extent of surgery is not well defined due to the lack of evidence-based data. In addition, multiple factors have to be taken into account to determine an op...
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
The role of biomarkers in the early detection of pancreatic cancer
AbstractPancreatic surveillance can detect early-stage pancreatic cancer and achieve long-term survival, but currently involves annual endoscopic ultrasound and MRI/MRCP, and is recommended only for individuals who meet familial/genetic risk criteria. To improve upon current approaches to pancreatic cancer early detection and to expand access, more accurate, inexpensive, and safe biomarkers are needed, but finding them has remained elusive. Newer approaches to early detection, such as using gene tests to personalize biomarker interpretation, and the increasing application of artificial intelligence approaches to integrate ...
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review
AbstractDespite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and facilitators of family communication and/or uptake of cascade genetic testing in relatives from HBOC families. Search terms in cluded ‘hereditary breast and ovarian cancer’ and ‘cascade genetic testing’ for studies published from 2012–2022. Through searching common databases, and manual search of referen...
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
The odyssee from surveillance to the detection of pancreatic cancer, total pancreatectomy, and its impact on life. insights from a p16-Leiden pathogenic variant carrier
(Source: Familial Cancer)
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
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
