294 Higher Prevalence of Cystic Lesions of the Pancreas in First Degree Relatives of Familial Pancreatic Cancer Cases Than in Carriers of Pancreatic Cancer-Prone Gene Mutations

2015 ◽  
Vol 148 (4) ◽  
pp. S-64
Author(s):  
Ingrid C. Konings ◽  
Femme Harinck ◽  
Jan-Werner Poley ◽  
Cora M. Aalfs ◽  
Anja van Rens ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Gene Mutations ◽  
Familial Pancreatic Cancer ◽  
Cystic Lesions ◽  
First Degree Relatives

Risk independence for the identification of cystic lesions in Familial Pancreatic Cancer (FPC) kindreds

Pancreatology ◽  
2017 ◽  
Vol 17 (3) ◽  
pp. S68
Author(s):  
Andrea Sheel ◽  
Sara Harrison ◽  
Ioannis Sarantitis ◽  
James Nicholson ◽  
Christopher Halloran ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Familial Pancreatic Cancer ◽  
Cystic Lesions

Genetic and phenotypic characterization of families with familial pancreatic cancer and screening of high-risk individuals.

2015 ◽  
Vol 33 (3_suppl) ◽  
pp. 242-242
Author(s):  
Carmen Guillen ◽  
Julie Earl ◽  
Evelina Mocci ◽  
Carme Guerrero ◽  
Jose Montans ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Screening Program ◽  
Premalignant Lesions ◽  
Phenotypic Characterization ◽  
Familial Pancreatic Cancer ◽  
Cystic Lesions ◽  
Term Survival ◽  
Clinical Screening ◽  
Partial Pancreatectomy

242 Background: The prognosis of patients diagnosed with Pancreatic Cancer (PC) is dismal with a 5-year survival rate of around 5%. Familial Pancreatic Cancer (FPC) is an autosomal dominant rare syndrome defined as families with two or more first-degree relatives with pancreatic cancer that do not fulfill the criteria of any other inherited tumor syndrome. The Spanish familial pancreatic cancer registry, Pan-Gen-FAM was established in 2009 in order to identify and manage families at high risk of developing PC. Methods: Information on the family history of cancer is collected in order to determine the phenotype of individual families and patients are offered genetic testing of known FPC associated genes pertinent to their familial syndrome. An individualized clinical screening program is devised for the early detection of a pancreatic tumor consisting of periodic monitoring by imaging techniques (EUS and MRI) and the evaluation of minimally-invasive tumor biomarkers approaches including Circulating Tumor Cells (CTC) and circulating free DNA in blood. Results: To date the registry includes 125 individuals representing some 41 families. Of 17 families tested so far BRCA2 germline mutations were detected in 5 families and a BRCA1 mutation in 1 family. 43 individuals underwent clinical screening. More pancreatic abnormalities were found by EUS (41%) than by MRI (31%). The most frequent abnormal findings were parenchymal changes associated with chronic pancreatitis. Eight cystic lesions were identified. One lesion was identified as a well differentiated neuroendocrine tumor and another was shown to have benign cytology and whilst carcinoma was found in a third patient, this patient underwent a subsequent partial pancreatectomy. The remaining patients with cystic lesions are undergoing close clinical observation. Seventy three patients underwent CTC determinations and all patients tested negative. Conclusions: Periodic screening of high risk individuals by EUS and RMI can detect small tumors and premalignant lesions. We hypothesize that these persons will have a higher probability of long-term survival than sporadic cases.

Prognostic significance of familial pancreatic cancer after surgery.

2020 ◽  
Vol 38 (4_suppl) ◽  
pp. 772-772
Author(s):  
Koji Tezuka ◽  
Yukiyasu Okamura ◽  
Teiichi Sugiura ◽  
Takaaki Ito ◽  
Yusuke Yamamoto ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Multivariate Analysis ◽  
Adjuvant Chemotherapy ◽  
Ductal Carcinoma ◽  
Independent Predictor ◽  
Univariate Analysis ◽  
Prognostic Significance ◽  
Pancreatic Ductal Carcinoma ◽  
Familial Pancreatic Cancer ◽  
First Degree Relatives

772 Background: Familial pancreatic cancer (FPC) is defined as two first-degree relatives with pancreatic cancer. It is known that the risk of developing pancreatic cancer increases in those who have a family history of pancreatic cancer in first-degree relatives. However, prognostic significance of FPC after surgery is not fully understood. Methods: Patients who underwent pancreatectomy for pancreatic ductal carcinoma between January 2008 and December 2016 were retrospectively reviewed. The prognostic significance of FPC was analyzed. Results: A total of 423 patients underwent pancreatectomy for pancreatic ductal carcinoma. FPC was identified in 32 (7.6%) patients. Recurrence occurred in 72% of all resected cases and in 88% of resected FPC cases. Multivariate analysis revealed FPC (hazard ratio [HR] 1.60; P=0.026), CA19-9 ≥300 U/ml (HR 1.54; P=0.001), lymph node metastasis (HR 2.10; P<0.001), microscopic venous invasion (HR 1.64; P<0.001), nerve plexus invasion (HR 1.39; P=0.010), R1 resection (HR 1.65; P=0.010), and lack of adjuvant chemotherapy (HR 2.27; P<0.001) as independent predictors for recurrence-free survival (RFS). The univariate analysis revealed that FPC is significantly associated with worse overall survival (OS) (P=0.018). The multivariate analysis showed that FPC was not an independent predictor of OS. This cohort was divided into 314 patients (FPC: 18 patients, non-FPC: 296 patients) who received adjuvant chemotherapy (AC group) and 109 patients (FPC: 14 patients, non-FPC: 95 patients) received no adjuvant chemotherapy (no AC group). In AC group, FPC is an independent predictor for RFS (HR 3.03; P<0.001) and OS (HR 2.23; P=0.018). In no AC group, FPC is not a predictor for RFS and OS. Conclusions: This study may show that FPC has a significant impact on RFS and OS after resection in patients who received adjuvant chemotherapy.

PANCREATIC CYSTIC LESIONS: DOCTOR, DO I HAVE PANCREATIC CANCER!?

2020 ◽  
Author(s):  
E Rinja ◽  
V Sandru ◽  
R Plescuta ◽  
A Butuc ◽  
D Vascu ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Cystic Lesions

scholarly journals Somatic Mutation Profiling in the Liquid Biopsy and Clinical Analysis of Hereditary and Familial Pancreatic Cancer Cases Reveals KRAS Negativity and a Longer Overall Survival

Cancers ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1612
Author(s):  
Julie Earl ◽  
Emma Barreto ◽  
María E. Castillo ◽  
Raquel Fuentes ◽  
Mercedes Rodríguez-Garrote ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Overall Survival ◽  
Somatic Mutation ◽  
Disease Status ◽  
Clinical Analysis ◽  
Cytotoxic Agents ◽  
Disease Stage ◽  
Ductal Adenocarcinoma ◽  
Familial Pancreatic Cancer ◽  
Circulating Free Dna

Pancreatic ductal adenocarcinoma (PDAC) presents many challenges in the clinic and there are many areas for improvement in diagnostics and patient management. The five-year survival rate is around 7.2% as the majority of patients present with advanced disease at diagnosis that is treatment resistant. Approximately 10–15% of PDAC cases have a hereditary basis or Familial Pancreatic Cancer (FPC). Here we demonstrate the use of circulating free DNA (cfDNA) in plasma as a prognostic biomarker in PDAC. The levels of cfDNA correlated with disease status, disease stage, and overall survival. Furthermore, we show for the first time via BEAMing that the majority of hereditary or familial PDAC cases (around 84%) are negative for a KRAS somatic mutation. In addition, KRAS mutation negative cases harbor somatic mutations in potentially druggable genes such as KIT, PDGFR, MET, BRAF, and PIK3CA that could be exploited in the clinic. Finally, familial or hereditary cases have a longer overall survival compared to sporadic cases (10.2 vs. 21.7 months, respectively). Currently, all patients are treated the same in the clinic with cytotoxic agents, although here we demonstrate that there are different subtypes of tumors at the genetic level that could pave the way to personalized treatment.

scholarly journals A MOLECULAR-BASED APPROACH TO INVESTIGATE BREAST CANCER 1 AND BREAST CANCER 2 STATUS IN OVARIAN CANCER AMONG IRAQI WOMEN

2018 ◽  
Vol 11 (7) ◽  
pp. 199
Author(s):  
Muhannad Shweash ◽  
Saddam Jumaa Naseer ◽  
Maisam Khider Al-anii ◽  
Thulfiqar Fawwaz Mutar
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Gene Mutations ◽  
Healthy Controls ◽  
Brca1 And Brca2 ◽  
First Degree Relatives ◽  
Brca Gene ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

Objective: Cancer ovary is one of the fatal gynecologic malignancies worldwide. Since breast cancer (BRCA) genes are considered tumor suppressor genes and play important roles in cancer by repairing of chromosomal damage with the error repair of DNA breaks. Therefore, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations strongly enhance the development of ovarian cancer risk among women. Here, we report that both genes are an essential mediator of progress ovarian cancer, to determine the influence of BRCA1 and BRCA2 mutations in the improvement of ovarian cancer.Methods: A total of 25 subjects were chosen for the genetic studies, and three groups were recruited: fifteen ovarian cancer patients group, five healthy controls, and five first-degree relatives to a known case of ovarian cancer patients.Results: A genetic analysis revealed that a strong correlation exists between both gene mutations’ status in ovarian cancer, and BRCA gene mutations (185delAG, 5382insC, and 4153delA in BRCA1 and 6174delT in BRCA2) remained to establish to have a relatively high frequency among people in this study among ovarian cancer patients. Furthermore, seven patients with ovarian cancer carried all of the four investigated mutations, and five had three mutations.Conclusion: Otherwise, BRCA gene frequency showed low prevalence among first-degree relatives, and to a lesser extent among healthy controls, with only a few had all of the mutations combined. These data demonstrate for the first time a molecular link between BRCA1 and BRCA2 mutations in ovarian cancer progression in Iraq.

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