Compliance with germline testing in pancreatic cancer in a rural tertiary care hospital.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10599-10599
Author(s):  
Catherine Travaline ◽  
Leighton Andrew Elliott ◽  
Nadia N. Ramdin ◽  
Joseph Vadakara

10599 Background: Pancreatic cancer is the 7th most common cause of cancer death worldwide and is projected to be the second leading cause of cancer death in the next decade. Personalized care is becoming more of a reality with pharmacological regimens targeting specific genetic mutations. In March 2019, the National Comprehensive Cancer Network (NCCN) guidelines were updated to recommend germline testing (GT) in all patients with pancreatic adenocarcinoma (PDAC) considering 1 in 10 may have a germline mutation (GM). The goal of this study was to quantify compliance with these recently updated guidelines. Methods: The electronic medical records and survivorship data of all patients diagnosed with PDAC between January 1, 2017 and October 1, 2020 were reviewed. April 1, 2019 was used as the transition point (TP) for guideline updates. Descriptive statistics for all variables were determined. The rate of ordered referrals to genetic counseling (GC), as well as completion rate, was calculated. Results: A total of 304 patients were diagnosed with PDAC during the study period (223 prior to the TP). A total of 54 patients were referred for GC and 41 had GT ordered. The rate of GC referrals ordered after the TP was significantly higher than before the TP (22/81, 26.6% vs. 32/223, 14.4%; p-value 0.010). Almost 60% of patients who had genetic evaluation had private insurance. The patients who completed GT were significantly more likely to have a documented family history of cancer (61.0% vs 4.2%; p-value <.0001Patients who completed GT had more problems on their problem list (median 10 vs 7, p = 0.001). The median overall survival (OS) for all patients in the study was 7.8 months (95% CI: 6.3-9.8). Conclusions: Overall compliance with the updated NCCN guidelines significantly improved; however, it was below 25%. This study showed that there may be some lingering bias toward GT in PDAC solely for those who have a family history of cancer. Although patients with stage IV PDAC have poor outcomes, GT may still improve surveillance for family members. The approval of olaparib in patients with BRCA1/2 mutations based on the POLO trial is likely to increase provider compliance as it provides a viable maintenance strategy in these patients. Patient complexity was unlikely to affect GT rate. Assessment of provider awareness was outside the scope of this study. There is need for continued advocacy for awareness and implementation of guidelines that highlight the importance of germline evaluation on prevention, surveillance, and treatment in pancreatic adenocarcinoma.

2016 ◽  
Vol 26 (4) ◽  
pp. 806-813 ◽  
Author(s):  
Aimee L. Lucas ◽  
Adam Tarlecki ◽  
Kellie Van Beck ◽  
Casey Lipton ◽  
Arindam RoyChoudhury ◽  
...  

2020 ◽  
Author(s):  
Urška Kotnik ◽  
Borut Peterlin ◽  
Luca Lovrecic

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.


2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16749-e16749
Author(s):  
Livia Munhoz Rodrigues ◽  
Simone Maistro ◽  
Maria Lucia Hirata Katayama ◽  
Luiz A.Senna Leite ◽  
Joao Glasberg ◽  
...  

e16749 Background: Pancreatic cancer has the prospect of becoming the second leading cause of cancer death by 2030. The NCCN Guidelines recommend genetic testing for all patients with pancreatic cancer, however, the spectrum of germline mutations has not been extensively evaluated because recent studies with genetic testing have explored only a limited number of genes and have focused predominantly on Caucasian populations. Therefore, our objective is to evaluate the frequency and spectrum of germline mutations in unselected patients with pancreatic cancer in a multiethnic population. Methods: Patients from Instituto do Câncer do Estado de São Paulo (Brazil) with histopathological diagnosis of non-endocrine pancreatic carcinoma were included, regardless of the family history of cancer. These patients answered a life habits and family history of cancer questionnaire and supplied blood for the Next Generation Sequencing (MiSeq platform) with the TruSight Hereditary Cancer panel (Illumina), which includes 115 cancer predisposing genes. Variant analysis was performed with the VarStation, a Brazilian tool that offers post-sequencing computational support and aid for clinical interpretation. Results: To the present moment, 77 patients were evaluated. The mean age of the patients was 62 years (27-83), among whom, 13% with young age (≤50 years) and 47 women (61%). Thirty-eight patients (49%) reported cases of cancer in first-degree relatives. Regarding risk factors, 41 patients (53%) reported smoking, 19 (25%) alcohol ingestion and 20 (26%) had obesity. Seven out of 77 patients presented pathogenic variants in ATM (n = 2) , CHEK2, FANCM (n = 2) or PALB2 (n = 2) genes. Two of these patients ( CHEK2 and FANCM) had early onset pancreatic cancer (≤45 years), both denied smoking habit and family history of cancer in 1st degree relatives. Two patients, who were ATM mutation carriers, reported 1st or 2nd degree relatives with cancer and are alive after 4 and 8 years of diagnosis. Conclusions: In this unselected group of pancreatic cancer patients, 15% were young, almost half reported first-degree relatives with cancer and 9% were carriers of pathogenic variants in genes related with the homologous recombination DNA repair.


2010 ◽  
Vol 127 (6) ◽  
pp. 1421-1428 ◽  
Author(s):  
Eric J. Jacobs ◽  
Stephen J. Chanock ◽  
Charles S. Fuchs ◽  
Andrea LaCroix ◽  
Robert R. McWilliams ◽  
...  

2019 ◽  
Vol 120 (8) ◽  
pp. 848-854 ◽  
Author(s):  
Tsuyoshi Hamada ◽  
Chen Yuan ◽  
Matthew B. Yurgelun ◽  
Kimberly Perez ◽  
Natalia Khalaf ◽  
...  

Pancreas ◽  
2014 ◽  
Vol 43 (7) ◽  
pp. 1014-1017 ◽  
Author(s):  
Suguru Mizuno ◽  
Yousuke Nakai ◽  
Hiroyuki Isayama ◽  
Shuhei Kawahata ◽  
Tomotaka Saito ◽  
...  

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