Joanna Rogala,
Joanna Rogala
Institution: NULL
Email:
Ming Zhou
Ming Zhou
Institution: NULL
Email:
Posted 3 weeks ago
zulqarnain bhalwal
zulqarnain bhalwal
Institution: NULL
Email:
Hereditary non-polyposis colorectal cancer (HNPCC) and itsgenetic basis
Posted 3 weeks ago
Jordon B. Ritchie,
Jordon B. Ritchie
Institution: NULL
Email:
Cecelia Bellcross,
Cecelia Bellcross
Institution: NULL
Email:
Caitlin G. Allen,
Caitlin G. Allen
Institution: NULL
Email:
Lewis Frey,
Lewis Frey
Institution: NULL
Email:
Heath Morrison,
Heath Morrison
Institution: NULL
Email:
Joshua D. Schiffman,
Joshua D. Schiffman
Institution: NULL
Email:
Brandon M. Welch
Brandon M. Welch
Institution: NULL
Email:
Background
Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evalua...
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Background
Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement across guidelines, and how well they identify patients who should consider a cancer genetic consultation.
Methods
We compare the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Networks (NCCN) (2019) CPG criteria for FHx collected by a chatbot and evaluated by ontologies and web services in a previous study. Collected FHx met criteria from seven groups: Gene Mutation, Breast and Ovarian, Li-Fraumeni syndrome (LFS), Colorectal and Endometrial, Relative Meets Criteria, ACMG Only Criteria, and NCCN Testing. CPG Criteria were coded and matched across 12 ACMG sub-guidelines and 6 NCCN sub-guidelines for comparison purposes.
Results
The dataset contains 4915 records, of which 2221 met either ACMG or NCCN criteria and 2694 did not. There was significant overlap—1179 probands met both ACMG and NCCN criteria. The greatest similarities were for Gene Mutation and Breast and Ovarian criteria and the greatest disparity existed among Colorectal and Endometrial criteria. Only 156 positive gene mutations were reported and of the 2694 probands who did not meet criteria, 90.6% of them reported at least one cancer in their personal or family cancer history.
Conclusion
Hereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk.
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Posted 3 weeks ago
Hey Mi Park,
Hey Mi Park
Institution: NULL
Email:
Sangeun Jun
Sangeun Jun
Institution: NULL
Email:
Purpose: This study aimed to explore the knowledge of hereditary breast cancer (HBC) and attitudes and intention towards genetic testing of the patients with high-risk HBC, and to describe their differences according to the intention of genetic test. Methods: High-risk HBC patients (n = 138) who did...
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Purpose: This study aimed to explore the knowledge of hereditary breast cancer (HBC) and attitudes and intention towards genetic testing of the patients with high-risk HBC, and to describe their differences according to the intention of genetic test. Methods: High-risk HBC patients (n = 138) who did not take genetic test or relevant counseling were recruited in D city, Korea. Participants completed questionnaires including demographic characteristics, knowledge of HBC, and attitudes and intention of genetic test. Results: The average score of knowledge on HBC was 9.59±2.32, and the average positive and negative attitude scores were 31.36±4.12 and 24.13±4.78, respectively. The benefit of genetic test rated as most important was “to help my daughters or sisters decide whether to undergo genetic testing” and “to motivate me to perform breast self-examination more frequently”. The most important perceived limitation was “if I were found to carry the gene, my concerns about my female offspring developing breast cancer would increase.” Of the participants, 40.6% indicated willingness to test their genes and 48.6% considered it. Participants with a partner (p=.043) and higher educational level (p=.005) showed significantly lower willingness to test. Conclusion: These results suggest that high-risk HBC patients understand important facts regarding the inheritance of breast cancer and genetic test and their interest in genetic testing is substantial. Considering previous reports that perceptions of the benefits of genetic testing were important predictors of genetic test utilization, the developments of educational and counseling programs to deliver proper knowledge are necessary.
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Posted 3 weeks ago
Nicole Uzzo,
Nicole Uzzo
Institution: NULL
Email:
Matthew Loecher,
Matthew Loecher
Institution: NULL
Email:
Robert G. Uzzo,
Robert G. Uzzo
Institution: NULL
Email:
Daniel D. Eun
Daniel D. Eun
Institution: NULL
Email:
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 ...
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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 present the case of a third trimester patient with an enlarging and enhancing renal mass managed with robotic assisted laparoscopic partial nephrectomy. Histologic analysis was consistent with renal leiomyoma. Renal leiomyomas are a rare benign mesenchymal tumor influenced by changes in progesterone-estrogen axis.
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Posted 3 weeks ago
Jaclyn Hynes,
Jaclyn Hynes
Institution: NULL
Email:
Andrée MacMillan,
Andrée MacMillan
Institution: NULL
Email:
Sara Fernandez,
Sara Fernandez
Institution: NULL
Email:
Karen Jacob,
Karen Jacob
Institution: NULL
Email:
Shannon Carter,
Shannon Carter
Institution: NULL
Email:
Sarah Predham,
Sarah Predham
Institution: NULL
Email:
Holly Etchegary,
Holly Etchegary
Institution: NULL
Email:
Lesa Dawson
Lesa Dawson
Institution: NULL
Email:
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...
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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 further research regarding alternate methods of GC service delivery and implementation. This quality improvement project was initiated to determine if pretest group GC followed immediately by a ‘mini’ individual session, would be acceptable to patients at risk for hereditary breast and colon cancer.
Methods
Patients on waitlists for GC at the Provincial Medical Genetics Program in St. John’s, NL, Canada (<jats:italic>n</jats:italic> = 112), were contacted by telephone and offered the option of a group counselling session (GGC), followed by a “mini” individual session, versus (TGC) traditional private appointments. GGC sessions consisted of a cancer genetics information session given to groups of 6–20 followed by brief 20 min “mini” individual sessions with the patient and genetic specialist. TGC individual appointments provided the same cancer genetics information and counselling to one patient at a time in the classic model. All but 2 participants selected group+mini session. A de-identified confidential 12-item, Likert scale survey was distributed at the conclusion of mini-sessions to measure perceptions of GGC and satisfaction with this counselling model.
Results
Sixty participants completed questionnaires. The majority of participants strongly agreed that they were comfortable with the group session (58/60); the explanation of cancer genetics was clear (54/59); they understood their cancer risks (50/60); and they would recommend such a session to others (56/59). 38/53 respondents disagreed or strongly disagreed that they would prefer to wait for a traditional private appointment. All 5 participating genetic counselors reported a preference for this model. At the end of the pilot project, the waitlist for counselling/testing was reduced by 12 months.
Conclusions
Group pre-test genetic counselling combined with immediate “mini” individual session is strongly supported by patients and reduces wait times. Additional formal investigation of this approach in larger numbers of patients is warranted.
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Posted 3 weeks ago
zulqarnain bhalwal
zulqarnain bhalwal
Institution: NULL
Email:
Hereditary Cancer Syndromes: Identifying and Managing High-Risk Patients
Posted 3 weeks ago
Marek Olakowski,
Marek Olakowski
Institution: NULL
Email:
Łukasz Bułdak
Łukasz Bułdak
Institution: NULL
Email:
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 syndr...
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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 familial pancreatic cancer, which is associated with several genetic factors responsible for the more common development of pancreatic cancer in certain families, but the precise single gene mutation has not been found.
Aim
This review summarizes the current state of knowledge regarding the risk of pancreatic cancer development in hereditary pancreatic cancer and familial pancreatic cancer patients. Furthermore, it gathers the latest recommendations from the three major organizations dealing with the prevention of pancreatic cancer in high-risk groups and explores recent guidelines of scientific societies on screening for pancreatic cancers in individuals at risk for hereditary or familial pancreatic cancer.
Conclusions
In order to improve patients’ outcomes, authors of current guidelines recommend early and intensive screening in patients with pancreatic cancer resulting from genetic background. The screening should be performed in excellence centers. The scope, extent and cost-effectiveness of such interventions requires further studies.
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Posted 3 weeks ago
Swati G. Patel,
Swati G. Patel
Institution: NULL
Email:
Heather Hampel,
Heather Hampel
Institution: NULL
Email:
Derek Smith,
Derek Smith
Institution: NULL
Email:
Dexiang Gao,
Dexiang Gao
Institution: NULL
Email:
Myles Cockburn,
Myles Cockburn
Institution: NULL
Email:
Fay Kastrinos
Fay Kastrinos
Institution: NULL
Email:
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 p...
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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 cancer.
Aim: Describe the prevalence of hereditary cancer syndromes among patients with advanced colorectal polyps.
Methods: We performed a single center retrospective review from 2015 to 2019 of patients who underwent germline genetic testing with indication for testing listed as colorectal polyp. We excluded patients with a personal history of CRC and those with ≥10 cumulative polyps. We collected patient demographics, polyp characteristics, family history data and genetic testing results from the medical record. Discrete variables were reported as frequency and percentages and continuous variables reported as mean with range.
Results: A total of 42 patients underwent genetic testing due to a personal history of advanced adenoma. 17% of patients met current genetic testing criteria. All patients underwent multi-gene panel testing. Two patients (4.8%) had a germline pathogenic mutation (one in MLH1 and one in CHEK2). The patient with an MLH1 mutation met current criteria for genetic testing (PREMM5 score 5.8), however the patient with the CHEK2 mutation did not. Both mutation carriers had a personal history of synchronous or metachronous advanced adenomas. 38% had a variant of uncertain significance.
Conclusions: 5% of patients with advanced adenomas in our retrospective series had a pathogenic germline mutation in a cancer predisposition gene. Though the patient with a pathogenic mutation in MLH1 met current clinical criteria for genetic testing, this was not recognized prior to referral; he was referred based on a personal history of advanced adenoma. Advanced polyps may be a red flag to identify patients who are at risk for hereditary
cancer syndromes.
Keywords: Colorectal cancer, Colorectal polyps, Adenomas, Genetic testing, Lynch syndrome
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Posted 3 weeks ago