Spanish registry and screening program for families at high risk of pancreatic adenocarcinoma.

2012 ◽  
Vol 30 (4_suppl) ◽  
pp. 192-192
Author(s):  
Carmen Guillen-Ponce ◽  
Evelina Mocci ◽  
Mirari Marquez ◽  
Julie Earl ◽  
Carmen T Guerrero ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
High Risk ◽  
Screening Program ◽  
Familial Aggregation ◽  
Molecular Characteristics ◽  
High Risk Population ◽  
Familial Pancreatic Cancer ◽  
Preneoplastic Lesions ◽  
History Of

192 Background: 5-10% of pancreatic cancer (PC) cases show familial aggregation. 20% of these correspond to syndromes: Peutz Jeghers, hereditary pancreatitis, familial multiple melanoma, breast and ovarian cancer (HBOC) and others. Familial pancreatic cancer (FPC) is defined as: ≥2 first degree relatives with PC and with no other known syndromes. FPC seems to have autosomal dominant inheritance, but the genetic cause is unknown. Methods: The objectives are: 1) To develop the first FPC Spanish Registry, connecting different groups interested in this disease 2) To study inheritance, phenotypic and molecular characteristics of the FPC, and families with early PC 3) To establish a strategy for early detection of PC in high-risk individuals and to implement it 4) To characterize preneoplastic lesions and diagnosed PC by monitoring high-risk individuals. 16 Spanish hospitals are participating. This study has two components: 1) Cohort to identify families with FPC and hereditary PC. Sources for the families are the PanGen-ES Study, a case-control study of PC which identifies families through a questionnaire on family history of cancer, and Genetic Counseling Units, 2) Cohort of high-risk families. The latter will be followed up by endoscopic ultrasound (EUS) and CT ± abdominal magnetic resonance imaging. In addition, circulating tumor cells (CTC) in peripheral blood will be determined. Results: The assessment of family history of the 421 cases included in the PanGen Study has identified 32 (7.6%) families with FPC and 52 patients with PC ≤ 50 years (12.4%). In addition, the 190 families presenting PC aggregation with other neoplasms are being further evaluated. At this time we have obtained clinical data and blood samples to carry out molecular studies of 23 individuals: 17 belonging to 3 families with FPC, and 6 members of 2 families with an HBOC with some cases of pancreatic cancer. 18 relatives at risk began a follow-up with EUS and CT, with no detection of any suspicious pancreatic lesion; also CTC have not been detected. Conclusions: This initiative will permit to know more about FPC and will serve to evaluate protocols and PC markers in screening the high-risk population, and promote connections with other international groups.

scholarly journals Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program

2016 ◽  
Vol 26 (4) ◽  
pp. 806-813 ◽  
Author(s):  
Aimee L. Lucas ◽  
Adam Tarlecki ◽  
Kellie Van Beck ◽  
Casey Lipton ◽  
Arindam RoyChoudhury ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Cancer Screening ◽  
Family History ◽  
Screening Program ◽  
Family History Of Cancer ◽  
Pancreatic Cancer Screening ◽  
Cancer Screening Program ◽  
History Of ◽  
History Of Cancer

scholarly journals Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Kodai Abe ◽  
Arisa Ueki ◽  
Yusaku Urakawa ◽  
Minoru Kitago ◽  
Tomoko Yoshihama ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Genetic Analysis ◽  
Pathogenic Variant ◽  
Familial Pancreatic Cancer ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Pancreatic Cancers ◽  
Epidemiological Surveys ◽  
History Of

Abstract Background Family history is one of the risk factors for pancreatic cancer. It is suggested that patients with pancreatic cancer who have a familial history harbor germline pathogenic variants of BRCA1 and/or BRCA2 (BRCA1/2), PALB2, or ATM. Recently, some germline variants of familial pancreatic cancers (FPCs), including PALB2, have been detected. Several countries, including Japan, perform screening workups and genetic analysis for pancreatic cancers. We have been carrying out active surveillance for FPC through epidemiological surveys, imaging analyses, and genetic analysis. Case presentation Here, we present the case of a female patient harboring pathogenic variants of PALB2 and NBN, with a family history of multiple pancreatic cancer in her younger brother, her aunt, and her father. Moreover, her father harbored a PALB2 pathogenic variant and her daughter harbored the same NBN pathogenic variant. Given the PALB2 and NBN variants, we designed surveillance strategies for the pancreas, breast, and ovary. Conclusions Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.

scholarly journals Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 169
Author(s):  
Matsubayashi ◽  
Kiyozumi ◽  
Ishiwatari ◽  
Uesaka ◽  
Kikuyama ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Early Stage ◽  
Developed Countries ◽  
Familial Pancreatic Cancer ◽  
Cancer Syndrome ◽  
Inherited Cancer ◽  
Clinicopathological Findings ◽  
History Of ◽  
Cancer Syndromes

A family history of pancreatic cancer (PC) is a risk factor of PC, and risk levels increase as affected families grow in number and/or develop PC at younger ages. Familial pancreatic cancer (FPC) is defined as a client having at least two PC cases in a first degree relatives. In the narrow sense, FPC does not include some inherited cancer syndromes that are known to increase the risks of PC, such as Peutz–Jeghers syndrome (PJS), hereditary pancreatitis (HP), hereditary breast ovarian cancer syndrome (HBOC), and so on. FPC accounts for 5%–10% of total PC diagnoses and is marked by several features in genetic, epidemiological, and clinicopathological findings that are similar to or distinct from conventional PC. Recent advances in genetic medicine have led to an increased ability to identify germline variants of cancer-associated genes. To date, high-risk individuals (HRIs) in many developed countries, including FPC kindreds and inherited cancer syndromes, are screened clinically to detect and treat early-stage PC. This article highlights the concept of FPC and the most recent data on its detection.

scholarly journals PancPRO: Risk Assessment for Individuals With a Family History of Pancreatic Cancer

2007 ◽  
Vol 25 (11) ◽  
pp. 1417-1422 ◽  
Author(s):  
Wenyi Wang ◽  
Sining Chen ◽  
Kieran A. Brune ◽  
Ralph H. Hruban ◽  
Giovanni Parmigiani ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Pancreatic Cancer ◽  
Family History ◽  
High Risk ◽  
Cancer Risk ◽  
Risk Prediction ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Familial Pancreatic Cancer ◽  
Cancer Susceptibility Gene

Purpose The rapid fatality of pancreatic cancer is, in large part, the result of an advanced stage of diagnosis for the majority of patients. Identification of individuals at high risk of developing pancreatic cancer is a first step towards the early detection of this disease. Individuals who may harbor a major pancreatic cancer susceptibility gene are one such high-risk group. The goal of this study was to develop and validate PancPRO, a Mendelian model for pancreatic cancer risk prediction in individuals with familial pancreatic cancer, to identify high-risk individuals. Methods PancPRO was built by extending the Bayesian modeling framework developed for BRCAPRO, trained using published data, and validated using independent prospective data on 961 families enrolled onto the National Familial Pancreas Tumor Registry, including 26 individuals who developed incident pancreatic cancer during follow-up. Results We developed a risk prediction model, PancPRO, and free software for the estimation of pancreatic cancer susceptibility gene carrier probabilities and absolute pancreatic cancer risk. Model validation demonstrated an observed to predicted pancreatic cancer ratio of 0.83 (95% CI, 0.52 to 1.20) and high discriminatory ability, with an area under the receiver operating characteristic curve of 0.75 (95% CI, 0.68 to 0.81) for PancPRO. Conclusion PancPRO is the first risk prediction model for pancreatic cancer. When we validated our model using the largest registry of familial pancreatic cancer, our model provided accurate risk assessment. Our findings highlight the importance of detailed family history for clinical cancer risk assessment and demonstrate that accurate genetic risk assessment is possible even when the causative genes are not known.

Spanish national hereditary pancreatic cancer registry (PanFAM).

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e12033-e12033
Author(s):  
Carmen Guillen-Ponce ◽  
Evelina Mocci ◽  
Julie Earl ◽  
Carmen T Guerrero ◽  
Maria Celia Calcedo ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Screening Program ◽  
Epidemiological Data ◽  
Screening Methods ◽  
Familial Pancreatic Cancer ◽  
Inherited Predisposition ◽  
Screening Study ◽  
Age Of Diagnosis ◽  
Breast And Prostate Cancer

e12033 Background: Inherited predisposition to Pancreatic Cancer (PC) corresponds 10% of all cases and includes members of families affected with hereditary cancer syndromes as Familial Pancreatic Cancer (FPC), Peutz-Jeghers, familial melanoma, hereditary breast and ovarian cancer, hereditary pancreatitis. An inherited predisposition in early onset PC (≤ 50 years) has also been suggested. We report preliminary data on PanFAM patients and screening of high risk individuals. Methods: PamFAM is a part of the European PANGEN PC case/control study of hereditary PC, co-ordinated by the Ramón y Cajal (RC) hospital and the Spanish National Cancer Research Center, with 16 participating hospitals. All families with clinical evidence of an inherited PC syndrome were recruited and multi-generational pedigrees were constructed. Cancer diagnoses were confirmed, when possible, by review of medical records. Blood samples and epidemiological data were collected for all participating family members. A screening program for early detection of PC, based on endoscopic ultrasound (EUS), CT and circulating tumour cells (CTCs) was offered to high risk individuals. Results: Of 505 Spanish PCs collected by PANGEN, 31 (~6%) were FPC cases; 18 (58%) revealed only PC and the remaining showed clustering with other tumor types, gastric cancer was the most common (13%). Among FPC families, 3 had 3 cases of PC and the remaining had 2 cases. The mean age of diagnosis was 67 years (range 47-85), 20 male and 11 female. Four FPCs were previously diagnosed with cancer (Hodgkin lymphoma, breast and prostate cancer) and 3 with acute pancreatitis. 37 PCs with no family history of cancer were diagnosed at the age of 50 years or earlier (mean 45, range 30-50), 18 male and 19 female. Other 27 eligible families were recruited by RyC hospital, 8 (30%) with FPC and 3 (11%) with PC ≤ 50 years. A cohort of 61 high risk individuals participes in the screening study: 3 had abnormal EUS, 1 a benign pancreatic node and 1 a renal angiolipoma; one young man had 2 CTCs. Conclusions: PanFAM is the first registry in Spain collecting hereditary PC cases and it represents an important resource to identify underlying gene defects and to the development of screening methods precursor lesions detection in high risk individuals.

Prospective assessment of the risk for colorectal neoplasia in a Mexican population according to risk categories.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e15158-e15158
Author(s):  
Vanessa Rosas Camargo ◽  
Edgar Omar Martos Armendariz ◽  
Mauricio Rivera Aguilar ◽  
Jorge Humberto Hernandez-Felix ◽  
Monica Lily Cordon ◽  
...  
Keyword(s):  
Family History ◽  
High Risk ◽  
Screening Program ◽  
Smoking Status ◽  
Colorectal Neoplasia ◽  
Asia Pacific ◽  
Screening Colonoscopy ◽  
Average Risk ◽  
Prospective Assessment ◽  
History Of

e15158 Background: General population screening can reduce colorectal cancer (CRC) mortality. International guidelines recommend CRC screening for asymptomatic people over 50 years. There is no established national screening program in Mexico. Even in countries with low incidence of CRC such as Mexico, targeted screening of subjects at high risk could decrease resource utilization and cost. Our aim was to describe the distribution among an average-risk population based on risk for colorectal neoplasia (CRN). Methods: We performed a prospective assessment of the risk for CRN among asymptomatic people over 50 years at Instituto Nacional de Ciencias Médicas y Nutrición between 2017-2018. The inclusion was competitive consistent with our age-sex pyramid. We included workers, non-family attendants and patients (internal medicine consultation). Each subject answered a standardized questionnaire, which included information on their age, gender, family history of CRC, diabetes, body mass index (BMI), smoking status and drinking habits. In order to stratify the population according to their risk for CRN, we used the Asia-Pacific Colorectal Screening (APCS) score. Results: We included 256 subjects. Median age was 59 y/o (50-93), 52% were female. 5% had a first-degree relative with CRC. 44% were current or ex-smoker and 9% reported alcohol consumption. 21% had diabetes. The median BMI was 27.3 (17-51). According to the APCS score, 60% were assigned as average risk (AR) and 40% as high risk (HR) for CRN. We observed a higher proportion of HR compared to our previous retrospective data (Table). Conclusions: We prospectively confirmed that using basic clinical information (age, gender, smoking status, family history of CRC, BMI and diabetes), it is possible to identify a subset of asymptomatic subjects at high risk for CRN in whom screening strategies should be prioritized. In developing countries with limited resources, a focus on high risk groups could improve cost effectiveness of screening colonoscopy. Risk stratification based on APCS score. [Table: see text]

M1947 Does a Family History of Breast Cancer Trump a Family History of Colorectal Cancer for Colonic Neoplasia in a Prospectively Evaluated High Risk Population?

2009 ◽  
Vol 136 (5) ◽  
pp. A-453
Author(s):  
Jeffrey J. Easler ◽  
Mary A. Rambus ◽  
James S. Hatfield ◽  
Rasna Gupta ◽  
Pragnesh Patel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Colorectal Cancer ◽  
Family History ◽  
High Risk ◽  
High Risk Population ◽  
Risk Population ◽  
Colonic Neoplasia ◽  
History Of

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.

scholarly journals Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes

2018 ◽  
pp. 1-28 ◽  
Author(s):  
Chunling Hu ◽  
Holly LaDuca ◽  
Hermela Shimelis ◽  
Eric C. Polley ◽  
Jenna Lilyquist ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
High Risk ◽  
Hereditary Cancer ◽  
Odds Ratio ◽  
Cancer Predisposition ◽  
Moderate Risk ◽  
Cancer Susceptibility Genes ◽  
Predisposition Genes ◽  
History Of

Purpose The relevance of inherited pathogenic mutations in cancer predisposition genes in pancreatic cancer is not well understood. We aimed to assess the characteristics of patients with pancreatic cancer referred for hereditary cancer genetic testing and to estimate the risk of pancreatic cancer associated with mutations in panel-based cancer predisposition genes in this high-risk population. Methods Patients with pancreatic cancer (N = 1,652) were identified from a 140,000-patient cohort undergoing multigene panel testing of predisposition genes between March 2012 and June 2016. Gene-level mutation frequencies relative to Exome Aggregation Consortium and Genome Aggregation Database reference controls were assessed. Results The frequency of germline cancer predisposition gene mutations among patients with pancreatic cancer was 20.73%. Mutations in ATM, BRCA2, CDKN2A, MSH2, MSH6, PALB2, and TP53 were associated with high pancreatic cancer risk (odds ratio, > 5), and mutations in BRCA1 were associated with moderate risk (odds ratio, > 2). In a logistic regression model adjusted for age at diagnosis and family history of cancer, ATM and BRCA2 mutations were associated with personal history of breast or pancreatic cancer, whereas PALB2 mutations were associated with family history of breast or pancreatic cancer. Conclusion These findings provide insight into the spectrum of mutations expected in patients with pancreatic cancer referred for cancer predisposition testing. Mutations in eight genes confer high or moderate risk of pancreatic cancer and may prove useful for risk assessment for pancreatic and other cancers. Family and personal histories of breast cancer are strong predictors of germline mutations.

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