Detection Of Cancer In Patients Research Articles

Transrectal versus transperineal prostate biopsy for cancer detection in patients with gray-zone prostate-specific antigen: a multicenter, real-world study.

Knowledge about the effect of different prostate biopsy approaches on the prostate cancer detection rate (CDR) in patients with gray-zone prostate-specific antigen (PSA) is limited. We performed this study to compare the CDR among patients who underwent different biopsy approaches and had rising PSA levels in the gray zone. Two hundred and twenty-two patients who underwent transrectal prostate biopsy (TRB) and 216 patients who underwent transperineal prostate biopsy (TPB) between June 2016 and September 2022 were reviewed in this study. In addition, 110 patients who received additional targeted biopsies following the systematic TPB were identified. Clinical parameters, including age, PSA derivative, prostate volume (PV), and needle core count, were recorded. The data were fitted via propensity score matching (PSM), adjusting for potential confounders. TPB outperformed TRB in terms of the CDR (49.6% vs 28.3%, P = 0.001). The clinically significant prostate cancer (csPCa) detection rate was not significantly different between TPB and TRB (78.6% vs 68.8%, P = 0.306). In stratified analysis, TPB outperformed TRB in CDR when the age of patients was 65-75 years (59.0% vs 22.0%, P < 0.001), when PV was 25.00-50.00 ml (63.2% vs 28.3%, P < 0.001), and when needle core count was no more than 12 (58.5% vs 31.5%, P = 0.005). The CDR (P = 0.712) and detection rate of csPCa (P = 0.993) did not significantly differ among the systematic, targeted, and combined biopsies. TPB outperformed TRB in CDR for patients with gray-zone PSA. Moreover, performing target biopsy after systematic TPB provided no additional benefits in CDR.

DeepCraftFuse: visual and deeply-learnable features work better together for esophageal cancer detection in patients with Barrett’s esophagus

DeepCraftFuse: visual and deeply-learnable features work better together for esophageal cancer detection in patients with Barrett’s esophagus

A multidisciplinary diagnostic centre for early detection of cancer in patients with non-specific symptoms: a service evaluation

Background/Aims Symptoms of malignancy are often vague and non-specific, leading to delayed diagnosis and treatment. The multidisciplinary diagnostic centre was established in 2017 to facilitate the shortest and safest route to detecting cancer in such cases. This study aimed to evaluate the service model and work towards a business case for more widespread adoption of the multidisciplinary diagnostic centre service. Methods Data from all patients managed by the service from 2017–21 were collected contemporaneously. After 51 months, service data were examined against the aims of the service, focusing on patient demographic characteristics, main reasons for referral, main diagnostic tests performed, patient outcomes and time from referral to discharge. Results Between 2 February 2017 and 30 April 2021, 899 patients were referred to the centre. Weight loss was the most common reason for referral. During this period, 96 (10.7%) patients were diagnosed with a cancer. Of these diagnoses, 42.9% were made within 28 days of referral, improving to 60.6% in the final year of the service evaluation. Conclusions The multidisciplinary diagnostic centre demonstrates the importance and potential of having a dedicated referral pathway for patients presenting with vague, concerning symptoms.

CtDNA transiting into urine is ultrashort and facilitates noninvasive liquid biopsy of HPV+ oropharyngeal cancer.

BACKGROUNDTransrenal cell-free tumor DNA (TR-ctDNA), which transits from the bloodstream into urine, has the potential to enable noninvasive cancer detection for a wide variety of nonurologic cancer types.MethodsUsing whole-genome sequencing, we discovered that urine TR-ctDNA fragments across multiple cancer types are predominantly ultrashort (<50 bp) and, therefore, likely to be missed by conventional ctDNA assays. We developed an ultrashort droplet digital PCR assay to detect TR-ctDNA originating from HPV-associated oropharyngeal squamous cell carcinoma (HPV+ OPSCC) and confirmed that assaying ultrashort DNA is critical for sensitive cancer detection from urine samples.ResultsTR-ctDNA was concordant with plasma ctDNA for cancer detection in patients with HPV+ OPSCC. As proof of concept for using urine TR-ctDNA for posttreatment surveillance, in a small longitudinal case series, TR-ctDNA showed promise for noninvasive detection of recurrence of HPV+ OPSCC.ConclusionOur data indicate that focusing on ultrashort fragments of TR-ctDNA will be important for realizing the full potential of urine-based cancer diagnostics. This has implications for urine-based detection of a wide variety of cancer types and for facilitating access to care through at-home specimen collections.FundingNIH grants R33 CA229023, R21 CA225493; NIH/National Cancer Institute grants U01 CA183848, R01 CA184153, and P30CA046592; American Cancer Society RSG-18-062-01-TBG; American Cancer Society Mission Boost grant MBGI-22-056-01-MBG; and the A. Alfred Taubman Medical Research Institute.

Advanced strain elastography is a reliable approach for prostate cancer detection in patients with elevated PSA levels

This study aimed to examine the validity and reproducibility of strain elastography (SE) for detecting prostate cancer (PCa) in patients with elevated prostate-specific antigen (PSA) levels. The study included 107 patients with elevated PSA levels. All eligible patients underwent transrectal ultrasound (TRUS) with real-time elastography (RTE) to detect suspicious lesions. Two readers independently evaluated the lesions and assigned a strain ratio and elastography score to each lesion. Histopathology was used as a reference standard to estimate the validity of RTE in predicting malignant lesions. An intraclass correlation (ICC) was performed to detect reliability of the strain ratios and elastography scores. TRUS-guided biopsy detected malignancies in 64 (59.8%) patients. TRUS with RTE revealed 122 lesions. The strain ratio index (SRI) cut-off values to diagnose malignancy were 4.05 and 4.35, with sensitivity, specificity, and accuracy of 94.7%, 91.3%, and 93.4%, respectively. An elastography score > 3 was the best cut-off value for detecting malignancy. According to readers, the sensitivity, specificity, and accuracy were 91.3–94.7%, 89.5–93.4%, and 91.3–90.9%, respectively. Excellent inter-reader agreement was recorded for SRI and elastography scores, with ICC of 0.937 and 0.800, respectively. SE proves to be an efficient tool for detecting PCa with high accuracy in patients with elevated PSA levels.

MiR-20b Tissue Expression Level Displays the Diagnostic Value in Papillary Thyroid Carcinoma.

Detection of cancer in patients with thyroid nodules requires sensitive and specific diagnostic modalities that are accurate and inexpensive. This study aimed to identify a potential microRNA(miRNA) panel to detect papillary thyroid carcinoma (PTC). Following a comprehensive literature review as well as miRNA target predictor databases, Real-time PCR was used to quantify the expression of candidate miRNAs in 59 tissue specimens from 30 patients with PTC and 29 patients with benign nodules. A receiver operating characteristic (ROC) curve analysis was used to assess the accuracy of miRNA expression levels compared to the pathology report as the gold standard. Based on prediction results, four miRNAs, including miR-9, miR-20b, miR-221, and miR-222, were selected to evaluate their expression level in Iranian thyroid samples. A significant difference between the tissue expression level of miR-20b, miR-9, miR-222, and miR-221 was detected in the PTC group compared with non-PTC (P < 0.05). The area under the curves for the included miRs were 1, 0.98, 0.99, 0.98, and 1, respectively. Our results confirmed deregulations of miR-20b as well as miR-222, miR-221, and miR-9 in PTC and, therefore, could be used as a helpful miRNA panel to differentiate PTC from benign nodules, which results in the more efficient clinical management of PTC patients.

107P Unveiling mismatch repair deficiency (dMMR) and microsatellite-instability high (MSI-H) detection in cancer patients (pt) using a next-generation sequencing (NGS)-based molecular pre-screening program (MPP)

107P Unveiling mismatch repair deficiency (dMMR) and microsatellite-instability high (MSI-H) detection in cancer patients (pt) using a next-generation sequencing (NGS)-based molecular pre-screening program (MPP)

A machine learning prediction model for cancer risk in patients with type 2 diabetes based on clinical tests.

The incidence of type 2 diabetes is rapidly increasing worldwide. Studies have shown that it is also associated with cancer-related morbidities. Early detection of cancer in patients with type 2 diabetes is crucial. This study aimed to construct a model to predict cancer risk in patients with type 2 diabetes. This study collected clinical data from a total of 5198 patients. A cancer risk prediction model was established by analyzing 261 items from routine laboratory tests. We screened 107 risk factors from 261 clinical tests based on the importance of the characteristic variables, significance of differences between groups (P< 0.05), and minimum description length algorithm. Compared with 16 machine learning classifiers, five classifiers based on the decision tree algorithm (CatBoost, light gradient boosting, random forest, XGBoost, and gradient boosting) had an area under the receiver operating characteristic curve (AUC) of > 0.80. The AUC for CatBoost was 0.852 (sensitivity: 79.6%; specificity: 83.2%). The constructed model can predict the risk of cancer in patients with type 2 diabetes based on tumor biomarkers and routine tests using machine learning algorithms. This is helpful for early cancer risk screening and prevention to improve patient outcomes.

3D-based strain analysis and cardiotoxicity detection in cancer patients received chemotherapy

BackgroundChemotherapy-induced cardiotoxicity has become a prevalent complication. Regular monitoring of patients who received chemotherapy using 3D strain parameters may aid in early detection of myocardial damage and its prevention. The purpose of this study was to evaluate the effectiveness of three-dimensional speckle tracking imaging (3D-STI) in diagnosing and predicting the likelihood of cardiotoxicity. This was achieved by conducting a systematic review of original research articles.ObjectivesTo evaluate the role of 3D speckle tracking echocardiography in early detection of cardiotoxicity.MethodsRelevant case control studies published prior to December 2022 were extracted to assess cardiotoxicity by 3D STE in patients after chemotherapy.ResultsA total of 1991 chemotherapy treated patients and control patients were included in the present review via pooling 22 studies.Conclusions3D speckle tracking echocardiography has the utility of non-invasive and objective evaluation of changes in left ventricular function in cancer patients undergoing chemotherapy.ROSPERO registration NoStudy ID, CRD42023383790 on PROSPERO: International prospective register of systematic reviews.

Role of computed tomography in sarcopenia detection

The study aimed to summarize the available data on the role of computed tomography in sarcopenia detection in cancer patients. Material and Methods. A literature search was conducted in the Medline, Scopus, Pubmed, and Elibrary systems. More than 100 articles published in 2008-2022 were analyzed. We included 45 articles in this review. Results. According to the European Consensus, sarcopenia is a syndrome characterized by progressive and generalized loss of skeletal muscle mass and strength due to age-related, neurohumoral changes, malnutrition or muscle catabolism. It is difficult to overestimate the importance of sarcopenia, since this syndrome is one of the five main risk factors for morbidity and mortality in people over 65 years of age. Sarcopenia is mainly observed in inflammatory diseases, malignancy or organ failure. According to most researchers, CT is considered the gold standard method to assess muscle mass and quality. It is a reliable method for quantitative analysis, which was shown in a study based on the comparison of quantitative assessment of various muscle groups based on CT with muscle volume measured on cadaveric tissues. The purpose of this literature review was to highlight the importance of computed tomography for the detection of sarcopenia in clinical practice. Based on the results of the literature analysis, sarcopenia is still a challenge for modern oncology. Sarcopenia negatively affects the prognosis of the disease and quality of life of cancer patients. Sarcopenia may develop due to metabolic changes caused by cancer treatment, as a result of which the degradation of muscle protein begins to prevail over its synthesis. Conclusion. Given the high prevalence and prognostic significance of sarcopenia in oncology, the need for its early diagnosis and active treatment becomes obvious. The use of routine CT examinations for the diagnosis of sarcopenia will allow us to search for possible causes and optimize treatment, determine the likelihood of risks and determine the treatment strategy at an early stage, when therapy can be most effective.

Addressing suicidal ideation in oncology patients.

e13534 Background: The diagnosis of cancer leads to worsening a patient’s physical, mental, personal stressors and inevitably can lead to patients questioning their mortality. Cancer is the leading cause of death in the United States, and the diagnosis and treatment of cancer can be very difficult for patients from a physical, psychosocial, and financial perspective. Suicide is the 10th leading cause of death in the United States and risk factors for suicide include family history of suicide, previous suicide attempts, feelings of hopelessness, and depression. In addition to these important risk factors, a recent study including 8.6 million cancer patients showed that risk of suicide is four times greater in cancer patients than the general population. Despite this elevated risk, the detection of cancer patients at highest risk of suicide is poor and there are limited resources to help providers risk stratify cancer patients at highest risk of suicide. Methods: We conducted a cross sectional study of Portland VA oncology providers (physicians, housestaff, advanced practice providers, nurses and social workers) to determine the frequency in which those providers work with oncology patients struggling with suicidal ideation, the frequency of screening completed by the oncology providers, and the barriers to screening patients for suicidal ideation during a regular office visit. Qualtrics surveys were sent to all VA oncology providers. A significance test for proportions was utilized to determine the statistical validity of the results. Results: A total of 22 providers completed the survey. The majority of respondents were MD/DOs (n=13 We showed that most providers have cared for patients affected by suicidal ideation including attempted suicide and completed suicide attempts (p &lt; 0.05). While most providers answered that they had screened patients for suicide before all respondents noted significant barriers to screening patients. The majority of respondents identified multiple barriers to addressing suicidality with almost all respondents included “not enough time” as one of the barriers. Other prominent barriers included, “unsure of next steps”, “not having proper tools to assess”, “not having expertise to assess”. Conclusions: Our study showed that most oncology providers will care for patients affected by suicidal ideation during their career. In addition it shows that while many providers have screened patients for suicidal ideation, most providers face significant barriers to doing so during a clinic visit. Our study contributes to the current body of knowledge by identifying the significant barriers faced in the providers in the Portland VA oncology clinic.

Computed high-b-value high-resolution DWI improves solid lesion detection in IPMN of the pancreas

ObjectivesTo examine the effect of high-b-value computed diffusion-weighted imaging (cDWI) on solid lesion detection and classification in pancreatic intraductal papillary mucinous neoplasm (IPMN), using endoscopic ultrasound (EUS) and histopathology as a standard of reference.MethodsEighty-two patients with known or suspected IPMN were retrospectively enrolled. Computed high-b-value images at b = 1000 s/mm2 were calculated from standard (b = 0, 50, 300, and 600 s/mm2) DWI images for conventional full field-of-view (fFOV, 3 × 3 × 4 mm3 voxel size) DWI. A subset of 39 patients received additional high-resolution reduced-field-of-view (rFOV, 2.5 × 2.5 × 3 mm3 voxel size) DWI. In this cohort, rFOV cDWI was compared against fFOV cDWI additionally. Two experienced radiologists evaluated (Likert scale 1–4) image quality (overall image quality, lesion detection and delineation, fluid suppression within the lesion). In addition, quantitative image parameters (apparent signal-to-noise ratio (aSNR), apparent contrast-to-noise ratio (aCNR), contrast ratio (CR)) were assessed. Diagnostic confidence regarding the presence/absence of diffusion-restricted solid nodules was assessed in an additional reader study.ResultsHigh-b-value cDWI at b = 1000 s/mm2 outperformed acquired DWI at b = 600 s/mm2 regarding lesion detection, fluid suppression, aCNR, CR, and lesion classification (p =  < .001–.002). Comparing cDWI from fFOV and rFOV revealed higher image quality in high-resolution rFOV-DWI compared to conventional fFOV-DWI (p ≤ .001–.018). High-b-value cDWI images were rated non-inferior to directly acquired high-b-value DWI images (p = .095–.655).ConclusionsHigh-b-value cDWI may improve the detection and classification of solid lesions in IPMN. Combining high-resolution imaging and high-b-value cDWI may further increase diagnostic precision.Clinical relevance statementThis study shows the potential of computed high-resolution high-sensitivity diffusion-weighted magnetic resonance imaging for solid lesion detection in pancreatic intraductal papillary mucinous neoplasia (IPMN). The technique may enable early cancer detection in patients under surveillance.Key Points• Computed high-b-value diffusion-weighted imaging (cDWI) may improve the detection and classification of intraductal papillary mucinous neoplasms (IPMN) of the pancreas.• cDWI calculated from high-resolution imaging increases diagnostic precision compared to cDWI calculated from conventional-resolution imaging.• cDWI has the potential to strengthen the role of MRI for screening and surveillance of IPMN, particularly in view of the rising incidence of IPMNs combined with now more conservative therapeutic approaches.

Diagnostic Yield of Computed Tomography for Cancer Detection in a Tertiary Referral Population of Idiopathic Inflammatory Myositis Patients.

To inform guidance for cancer detection in patients with idiopathic inflammatory myopathy (IIM), we evaluated the diagnostic yield of computed tomography (CT) imaging for cancer screening/surveillance within distinct IIM subtypes and myositis-specific autoantibody strata. We conducted a single-center, retrospective cohort study in IIM patients. Overall diagnostic yield (number of cancers diagnosed/number of tests performed), percentage of false positives (number of biopsies performed not leading to cancer diagnosis/number of tests performed), and test characteristics were determined on CT of the chest and abdomen/pelvis. Within the first 3 years since IIM symptom onset, a total of 9 of 1,011 (0.9%) chest CT scans and 12 of 657 (1.8%) abdomen/pelvis CT scans detected cancer. Diagnostic yields for both CT of the chest and CT of the abdomen/pelvis were highest in dermatomyositis, specifically anti-transcription intermediary factor 1γ (2.9% and 2.4% for CT of the chest and abdomen/pelvis, respectively). The highest percentage of false positives was in patients with antisynthetase syndrome (ASyS) (4.4%) and immune-mediated necrotizing myopathy (4.4%) on CT of the chest, and ASyS (3.8%) on CT of the abdomen/pelvis. Patients ages <40 years old at IIM onset had both low diagnostic yields (0% and 0.5%) and high false-positive rates (1.9% and 4.4%) for CT of the chest and abdomen/pelvis, respectively. In a tertiary referral cohort of IIM patients, CT imaging has a wide range of diagnostic yield and frequency of false positives for contemporaneous cancer. These findings suggest that cancer detection strategies targeted according to IIM subtype, autoantibody positivity, and age may maximize cancer detection while minimizing the harms and costs of over-screening.

Metabolic syndrome evaluation improves prostate cancer detection in patients undergoing a repeat biopsy

Metabolic syndrome evaluation improves prostate cancer detection in patients undergoing a repeat biopsy

MRI's Diagnostic Reliability in Cervical Cancer Screening Detecting Cancer using Magnetic Resonance Imaging is a Reliable Method (MRI) A Single Center Study

Aim: to evaluate the diagnostic efficacy of magnetic resonance imaging (MRI) for cervical cancer detection in patients with cervix carcinoma who had received a clinical diagnosis. Study Design: A Single Center Study Place and duration Department of Radiology Qazi hussain ahmad medical complex Nowshera from january 2018 to December 2019. Methods: In all, 75 individuals between the ages of 31 and 62 with clinically suspected cervical cancer were recruited in this research. After obtaining written agreement, extensive patient demographic information was gathered, including their age, place of residence, socioeconomic status, co-morbidities, and clinical presentation. An MRI of the pelvis was performed on each patient to find the malignancy. Histopathology was used as the standard. Results: Patients' ages ranged from 31 to 41 years for 15 (21%) patients, 42 to 52 years for 26 (34%) patients, 53 to 63 years for 21 (28%) patients, and beyond 61 years for 13 (18%) patients. The most prevalent symptom, post-menopausal bleeding, was seen in 32 (42%) patients, followed by atypical vaginal bleeding in 25 (34%) patients, foul-smelling watery discharge in 18 (24%) patients, and pelvic discomfort in 15 (21%) patients. By MRI, 53 patients (71%) had positive results, while 22 patients (29%) had negative findings. By histological examination, 56 patients (75%) had positive findings, while 19 patients (24%) had negative. The diagnostic accuracy of MRI was 90%, 87, 96, 74%, and 87%, respectively. Sensitivity, specificity, PPV, and NPV were also high. Conclusion: For cervical cancer diagnosis, magnetic resonance imaging is a beneficial diagnostic technique. Keywords: Cervical Carcinoma, Accuracy, Magnetic Resonance Imaging

Alcoholic liver disease in relation to cancer incidence and mortality: Findings from a large, matched cohort study in South Korea.

To estimate the risk of cancer incidence and mortality among patients with alcoholic liver disease in South Korea. A matched cohort study was conducted, including 1,042,185 men (alcoholic liver disease cases: 208,437; controls: 833,748) and 100,400 women (alcoholic liver disease cases: 20,080; controls: 80,320), matched for sex, age, smoking, alcohol consumption, and body mass index at a 1:4 ratio. The risk of cancer incidence and mortality in the alcoholic liver disease group was assessed using Cox proportional hazards regression models. Both men and women with alcoholic liver disease had an elevated risk of all-cancer and liver cancer incidence and mortality in comparison with the control group. In men, alcoholic liver disease was associated with a significantly higher risk of development of 10 cancer types, including lip, oral cavity, and pharynx; esophagus; liver; gallbladder and biliary tract; pancreas; larynx; lung; kidney; thyroid gland; and leukemia. Subgroup analysis by hepatitis B and C infection showed increased hazard ratios of all cancer incidences and mortality in the alcoholic liver disease group, regardless of hepatitis B or C infection status. In both sexes, a higher number and more years of hospital or clinic visits for alcoholic liver disease were associated with an increased risk of incidence and mortality from all cancers and liver cancer. A more profound dose-response relationship between alcoholic liver disease and alcohol consumption was observed in women than in men. Our findings emphasize the need for a clinical surveillance program and the early detection of cancer in patients with alcoholic liver disease.

Status of integrin subunit alpha 4 promoter DNA methylation in colorectal cancer and other malignant tumors: a systematic review and meta-analysis.

Although many recent studies have analyzed the validation of integrin subunit alpha 4 (ITGA4) biomarker for cancer detection in patients with various malignancies, the diagnostic value of ITGA4 methylation for malignant tumors remains uncertain. We performed a systematic review and meta-analysis to unravel the relationship between ITGA4 promoter methylation status and malignant tumors. A meta-analysis was performed using the metaphor package in R 3.5 and Meta-Disc 1.4 software. Data were derived from a search of main electronic databases up to January 2022. SROC analysis was used to evaluate the status of ITGA4 promoter methylation in colorectal cancer (CRC) and other cancers. A total of 1232 tumor samples and 649 non-tumor samples from 13 studies were analyzed. The pooled results including all types of cancer provided evidence that ITGA4 hypermethylation was more frequent in tumor samples than non-tumor samples (OR 13.32, 95% CI 7.96-22.29). Methylation of ITGA4 has a pooled sensitivity of 0.95 (95% CI: 0.94-0.97), a pooled specificity of 0.57 (95% CI: 0.54-0.60), and an area under the curve (AUC) of 0.94. When the analysis was performed independently for CRC, it revealed a higher association (OR = 20.77, 95% CI: 9.15-47.15). The assessment of ITGA4 methylation of tissue samples resulted in a pooled sensitivity of 0.99 (95% CI: 0.97-1.00) and a pooled specificity of 0.90 (95% CI: 0.86-0.93), and AUC of 0.94 for the diagnosis of CRC. ITGA4 methylation analysis is a reliable method for CRC screening in tissue samples.

Abstract 538: Cell-free whole genome sequencing for the detection of cancer in patients with germline BRCA1/2 mutations

Abstract Background: Hereditary breast and ovarian cancer syndrome (HBOC) is caused by a germline likely/pathogenic variant in BRCA1 or BRCA2, leading to increased risk of developing breast, ovarian, prostate, and pancreatic cancers. While HBOC patients often undergo regular surveillance including breast imaging, other cancers have no effective screening or biomarkers. One emerging technology is the analysis of circulating tumor DNA (ctDNA), fragments of DNA that are shed from the tumor into the bloodstream. In sporadic cancer, several studies have demonstrated the advantages and sensitivity of cell-free whole genome sequencing (cfWGS) compared to targeted panel sequencing. However, the use of cfWGS for cancer detection in HBOC has not been explored. Methods: Matched tumor, germline, and plasma were collected from 5 HBOC patients (3 breast, 2 ovarian) as part of the Canada-wide CHARM consortium (https://charmconsortium.ca). Tumor (40x), germline (20x), and plasma (20x) underwent whole genome sequencing (WGS) and subsequent variant calling pipeline using an ensemble of 6 variant callers. Insertions, deletions, and structural variants were not included in downstream analyses. Plasma tumor fraction prediction and copy number alterations were performed using ichorCNA. Detection of tumor associated mutations in plasma was compared to MRDetect software. Results: Variant calling identified an average of 11,170 tumor (7,649-16,706) and 1,215 (544-3,205) plasma SNVs per patient. Somatic BRCA1/2 mutations were detected in 0/5; whereas deletion of the intact BRCA1/2 allele was identified in 5/5 patients. An average of 24.6% (8.3%-75.9%) of plasma mutations where shared with SNVs identified in matched tumor. Targeted panel deep-sequencing (20,000X) was only able to detect mutations in TP53 in 3/5 cases (0.8% - 8.6%). Plasma derived copy number alterations correlated well with tumor derived copy number alterations in 3/5 cases and ichorCNA predicted tumor fractions ranged from 0.038 to 0.196. Conclusions: Traditionally, targeted panel sequencing has been used to identify tumor associated mutations in plasma. While this technique is sensitive, major disadvantages include the narrow breadth of the captured regions and the inability to detect deletion events such as those that occur in BRCA1/2. Here we show that plasma WGS is effective for detecting tumor associated mutations in HBOC and is more sensitive than targeted panel sequencing. We are currently expanding our cohort to an additional 20 matched tumor pairs, including patients with pre-diagnosis plasma timepoints. Citation Format: Derek Wong, Adriana Aguilar-Mahecha, Josiane Lafleur, Clarissa Chan, Kirsten Farncombe, Maia Norman, Leslie Oldfield, Prabhjit Basra, Stephanie Pederson, Johanna Wellum, Stephenie Prokopec, Mark Basik, Raymond H. Kim, Trevor Pugh. Cell-free whole genome sequencing for the detection of cancer in patients with germline BRCA1/2 mutations [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 538.

Determining concordance of LFSPRO TP53 germline carrier risk predictions to standard genetic counseling practice.

10593 Background: Li-Fraumeni Syndrome (LFS) is a hereditary cancer syndrome associated with a germline mutation in the TP53 tumor suppressor gene and an increased risk of developing a spectrum of cancers throughout a carrier’s lifetime. Early cancer detection in patients with TP53 mutations can dramatically improve cancer survival rates. However, it can be difficult to identify patients at risk of LFS due to the overlap of the multiple cancer types with other inherited cancer syndromes. Risk prediction modeling has been widely accepted by the clinical community, however, currently there is not an available tool to assist in risk prediction of LFS during genetic counseling sessions. LFSPRO is a statistical model that has previously been validated on large research cohorts in predicting the likelihood of a proband having LFS based off detailed patient and family history information. To improve the clinical utility of LFSPRO, a user-friendly interface is still needed. Additionally, we aim to evaluate concordance between LFSPRO’s abilities in predicting the likelihood of a proband having LFS and currently established clinical testing criteria. Methods: We developed a Shiny App to create a user-friendly interface for genetic counselors (GCs) to run LFSPRO. Determining concordance of LFSPRO to standard germline testing criteria and the clinical utility of the LFSPRO Shiny App is underway by GCs within the Department of Clinical Cancer Genetics at MD Anderson Cancer Center through prospective data collection and completion of user surveys. Following a standard genetic counseling session, individuals identified as concerning for a potential germline TP53 mutation are evaluated with LFSPRO to compare performance of the model to established TP53 testing guidelines. Concordance is then evaluated in prediction of TP53 mutation carrier status from LFSPRO, current clinical criteria and clinical judgment. Data collection began 12/21/2021 and is currently ongoing. Results: Close collaboration with GCs and clinicians on the development of the LFSPRO Shiny App has achieved automated de-identified input data, clear pedigree drawing, important demographic data, interpretable risk results and risk visualizations to be used at the GC's discretion. To date, 29 individual’s family data have been run through LFSPRO. Of these, 11 have not currently completed TP53 testing and concordance cannot be determined. Of the 18 remaining, 14 individuals’ LFSPRO results were concordant with current clinical criteria. Further data collection is needed to appropriately analyze concordance. Conclusions: The LFSPRO Shiny App aims to provide an additional tool for GCs and clinical providers to assess patient risk for LFS. This ongoing study will help establish the clinical utility of LFSPRO in a single institution’s genetic counseling practice with the potential to be applied to other patient care settings in the future.

Predictive Effect of EPS Results on Prostate Cancer Detection in Patients with High PSA Values

Predictive Effect of EPS Results on Prostate Cancer Detection in Patients with High PSA Values