EUS-based pancreatic cancer surveillance in BRCA1/BRCA2/PALB2/ATM carriers without a family history of pancreatic cancer

2021 ◽  
pp. canprevres.0161.2021
Author(s):  
Bryson W Katona ◽  
Jessica M Long ◽  
Nuzhat A Ahmad ◽  
Sara Attalla ◽  
Angela R Bradbury ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Cancer Surveillance ◽  
History Of ◽  
Brca1 Brca2

BRCA mutations and their clinical relevance in unselected pancreatic cancer population.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e16240-e16240
Author(s):  
Viola Barucca ◽  
Andrea Petricca Mancuso ◽  
Salvatore De Marco ◽  
Daniela Iacono ◽  
Carmelilia De Bernardo ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Disease Progression ◽  
Personal History ◽  
First Line ◽  
Brca Mutations ◽  
Cancer Family ◽  
Cancer Family History ◽  
Brca 2 ◽  
History Of

e16240 Background: Germline pathogenetic mutations in BRCA1/2 genes are described in pancreatic cancer patients (PCP) in about 5–9% of cases. The purpose of this study was to determine their relevance in an unselected consecutive cohort of PCP describing family and clinical history. Methods: Patients (pts) were recruited at a single cancer center from September 2019 to October 2020. Participants provided blood for DNA analysis; cancer family history and treatment records were reviewed; DNA was analyzed by Next Generation Sequencing and multiplex ligation-dependent probe amplification for germline variants in BRCA1/2 Results: 69 pts were included, 61 (88,4%) with locally advanced and metastatic pancreatic cancer received first line chemotherapy and 38 (62%) were full eligible for BRCA analysis; 8 out of 69 pts were BRCA screened even if in adjuvant setting, 10 patients are still under evaluation. Out of the 38 first line screened PCP germline BRCA mutations were found in 9 (19%): 4 pts (8,7%) with pathogenetic BRCA-2 variants (subgroup 1 – S1) and 5 pts (10,8%) with variants of unknown significances (VUSs), i.e. c.5339T>C and c.5096G>A in BRCA1 (subgroup 2 – S2). Samples from 29 pts were established as BRCA wild-type (subgroup 3 – S3). Pathogenetic BRCA-2 variants were observed in 2 male and 2 female (median age, 61.5 years, range 48-69), 3 out 4 without family history of breast, ovarian and pancreatic cancer, one patient (pt) had ovarian cancer family history. All pts had a negative personal history of others cancers. All S1 pts received FOLFIRINOX regimen achieving one complete response, 2 partials responses and 1 disease progression with RECIST criteria. The S2 included 2 male and 3 female (median age, 61 years, range 45-70) 2 with family history of pancreatic cancer, no pt had personal history of others cancers; 2 pts had stable disease and 3 disease progression receiving platinum-based regimen (4 pts) and gemcitabine/nabpaclitaxel (1 pt), respectively. Platinum responders were observed only in the well known pathogenetic BRCA-2 variants group with twice a median progression-free survival (PFS, months -ms-) as compared to the one observed in VUSs group. (>6 C.I. 95% 2- >12 ms; vs 3 ms, 95% C.I. 3-12 ms). S3 included 9 male and 20 female, (median age, 66 years, range 42-78); 5 pts had family history of pancreatic or breast cancer, 5 pts had a personal history of other cancers (breast and thyroid). In this group,16 pts received a platinum based regimen and 12 pts have been treated without platinum based regimen. Conclusions: Our results suggest that: 1) BRCA pathogenetic mutations rate (8,7%) is in line with literature data and seems not to be related with family or personal history, and to be associated with a better outcome; 2) No BRCA mutations were detected in patients over 70 years. 3) VUSs subgroup do not seem to benefit from platinum-regimen.

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 P747 Adherence to ECCO guidelines for cancer surveillance is associated to the detection of early cancer: A retrospective, single-centre, cohort study

2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S598-S599
Author(s):  
T L PARIGI ◽  
G Roda PhD ◽  
M Allocca ◽  
F Furfaro ◽  
L Loy ◽  
...  
Keyword(s):  
Family History ◽  
Skin Cancer ◽  
Disease Duration ◽  
Early Cancer ◽  
Cancer Surveillance ◽  
Early Cancer Diagnosis ◽  
Increased Risk ◽  
Significant Difference ◽  
History Of ◽  
The Impact

Abstract Background Patients with inflammatory bowel disease (IBD), such as ulcerative colitis (UC) and Crohn’s disease (CD) are at increased risk of developing gastrointestinal (GI) malignancies. The aim of this study is to assess the risk of malignancies in IBD patients and the impact of cancer screening according to the ECCO guidelines in a tertiary referral centre. Methods We retrospectively analysed the electronic database of all IBD patients followed by the IBD Centre of Humanitas Research Hospital, Milan, from January 2010 to October 2019, and collected all new diagnoses of solid and haematological tumours since 2010. The annual standardised incidence rate (SIR), rate of mortality and early cancer diagnosis were calculated and a descriptive analysis of drug exposure, disease duration, family history of any cancer, smoking habits was made. Results We included 5239 patients, with a total 19820 patient-years follow-up. Eighty-four malignancies in 81 patients were retrieved, 71 were included in the final analysis (38 CD, 32 UC, 31 females). Average age at tumour diagnosis was 52.9 years (range 19–78). 64% of patients were former or active smokers, 31% had a family history of cancer or IBD. Sixty-two per cent of patients were previously exposed or had 5-ASA at the time of cancer, 40% azathioprine, 43% anti-TNF or vedolizumab. The annual SIR for all kinds of malignancy was 0.358%. GI malignancies were the most frequent (n = 17, 23.9%, 47% UC, 53% in CD). Six over 8 GI tract malignancies in UC patients were found in the colon or rectum (mean disease duration 22.5 years), whereas in CD patients 5/9 were in the small-bowel (mean disease duration 7.0 years). Melanoma and breast cancer (n = 8 each) were the most common non-GI cancers, followed by prostate (n = 7) and bladder (n = 6). No significant difference in incidence was found between CD or UC. Non-Hodgkin lymphomas and leukaemia (3 and 1, respectively) only occurred in CD patients. Other tumours included thyroid (n = 5), lungs (n = 4), testicle (n = 3), ovary (n = 2), kidney (n = 2), head-nose-throat (n = 2), pancreas (n = 1), brain (n = 1), and non-melanoma skin cancer (n = 1). Death occurred in 11% of patients, 8 of them for late stage cancer. Only 2 were related to the concomitant IBD (1 colo-rectal and 1 anal cancer). In patients regularly screened according to the ECCO Guidelines (GI cancer, haematological and skin cancer), there was a significantly higher number of detection of early cancer (28 vs. 1, p = 0.003), although no differences in mortality rates were reported in the two groups (2 vs. 2, p = 0.10). Conclusion The overall incidence of cancer in our cohort was not different from the current literature available. Adherence to the ECCO Guidelines for cancer surveillance improves the detection of early cancer in IBD patients.

A family history of pancreatic cancer

2006 ◽  
Vol 3 (10) ◽  
pp. 586-591 ◽  
Author(s):  
Rajesh N Keswani ◽  
Amy Noffsinger ◽  
Irving Waxman
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
History Of

scholarly journals Genome-Wide Somatic Copy Number Alterations in Low-Grade PanINs and IPMNs from Individuals with a Family History of Pancreatic Cancer

2012 ◽  
Vol 18 (16) ◽  
pp. 4303-4312 ◽  
Author(s):  
Seung-Mo Hong ◽  
Audrey Vincent ◽  
Mitsuro Kanda ◽  
Julie Leclerc ◽  
Noriyuki Omura ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Copy Number ◽  
Low Grade ◽  
Copy Number Alterations ◽  
Genome Wide ◽  
History Of ◽  
Somatic Copy Number Alterations

Frequency of BRCA1 5382insC mutations in Russian non-selected pancreatic cancer patients.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e15165-e15165
Author(s):  
Alexey Kashintsev
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Founder Mutation ◽  
Brca1 Mutation ◽  
Parp Inhibitors ◽  
Mutation Carriers ◽  
Brca 1 ◽  
History Of ◽  
Associated Tumors

e15165 Background: Pancreatic cancer (PC) is known to be associated with BRCA2 mutations, while the role of BRCA1 in the increase of PC risk is less evident. BRCA1/2-driven tumors, including pancreatic cancer, are sensitive to platinating agents and PARP inhibitors. Epidemiology of BRCA1 mutations in Russia is characterized by a pronounced founder effect, with the allele BRCA1 5382insC being detected in 70-90% of all BRCA1 mutation carriers. Methods: 237 patients with consecutive patients with pancreatic cancer were by questionnaires, and 149 have provided their normal DNA to the study and underwent genotyping for BRCA 1 5382insC mutations. Results: Among all the patients in 105/237 (44.3%) patients reported first-degree relatives with various types of cancer, including 11/237 (4.6%) cases of pancreatic cancer. 2/149 genotyped patients carried BRCA1 5382insC allele. Both mutation carriers had first-degree family history of breast cancer. Conclusions: Given the simplicity of founder mutation detection, BRCA1 5382insC allele deserves to be tested in Slavic pancreatic cancer, especially in those reporting family history of BRCA1-associated tumors.

Germline mutations in Brazilian pancreatic carcinoma patients.

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 ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Pancreatic Carcinoma ◽  
Germline Mutations ◽  
Family History Of Cancer ◽  
First Degree Relatives ◽  
Pathogenic Variants ◽  
History Of ◽  
History Of Cancer

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.

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