Screening and surveillance in hereditary gastrointestinal cancers: Recommendations from the European Society of Digestive Oncology (ESDO) expert discussion at the 20th European Society for Medical Oncology (ESMO)/World Congress on Gastrointestinal Cancer, Barcelona, June 2018

Vangala, Deepak; Cauchin, Estelle; Balmañà, Judith; Wyrwicz, Lucjan; Cutsem, Éric Van; Güller, Ulrich; Castells, Antoni; Carneiro, Fátima; Hammel, Pascal; Ducreux, Michel; Laethem, Jean‐Luc Van; Matysiak‐Budnik, Tamara; Schmiegel, Wolff

doi:10.1016/j.ejca.2018.09.004

Cited by 63 publications

(93 citation statements)

References 76 publications

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“…Dies entspricht in Deutschland einer Inzidenz von etwa 1800 Fällen pro Jahr bei einer Prävalenz an Mutationsträgern von schätzungsweise 300 000. Nationale und internationale Publikationen bieten relativ kohärente Leitlinien zur Versorgung von LS-Patienten [2,4,6,9]. Im Folgenden wird daher vor allem zu aktuellen Daten und möglichen zukünftigen Änderungen in der Versorgung Stellung genommen.…”

Section: Lynch-syndromunclassified

Erbliche Polyposis und Darmkrebserkrankungen

Vangala¹,

Steckstor²,

Schmiegel³

et al. 2019

Gastroenterologie up2date

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Section: Lynch-syndromunclassified

Erbliche Polyposis und Darmkrebserkrankungen

Vangala¹,

Steckstor²,

Schmiegel³

et al. 2019

Gastroenterologie up2date

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“…Identifying subjects at‐risk of developing pancreatic ductal adenocarcinoma (PDAC) could allow personalised screening . Patients with non‐hereditary risk factors only have a moderate increase in the incidence of PDAC (eg, relative risk of 1.74 for smoking) and systematic screening cannot be proposed . In contrast, germline genetic alterations can result in a higher risk.…”

Section: Introductionmentioning

confidence: 99%

“…Although 5% to 10% of PDAC occur in a context of family pancreatic cancer (FPC) a germline causative variant is identified in a minority of cases . When no genetic alteration is identified, follow‐up is advisable for all first‐degree relatives of affected patients .…”

Section: Introductionmentioning

confidence: 99%

“…7,10,11 Although 5% to 10% of PDAC occur in a context of family pancreatic cancer (FPC) a germline causative variant is identified in a minority of cases. [1][2][3][4] When no genetic alteration is identified, follow-up is advisable for all first-degree relatives of affected patients. 1,4,5 Finally, some families with multiple cases of PDAC and/or precancerous lesions such as intraductal pancreatic mucinous neoplasms (IPMNs) do not strictly fulfil the criteria for FPC ('FPC-like') and are usually not considered for cancer genetics consultation.…”

mentioning

confidence: 99%

“…[1][2][3][4] When no genetic alteration is identified, follow-up is advisable for all first-degree relatives of affected patients. 1,4,5 Finally, some families with multiple cases of PDAC and/or precancerous lesions such as intraductal pancreatic mucinous neoplasms (IPMNs) do not strictly fulfil the criteria for FPC ('FPC-like') and are usually not considered for cancer genetics consultation. 1,4,12 This study reports results of genetic testing with a gradually enlarged panel of genes in index patients referred to a genetic clinic due to familial aggregation of PDAC with either strict or enlarged FPC criteria.…”

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confidence: 99%

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Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort

et al. 2019

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The rate of genetic diagnosis of French patients with familial pancreatic ductal adenocarcinoma (PDAC) is not known. We report germline genetic testing data from 133 index cases meeting criteria for familial pancreatic cancer (FPC) as well as 87 ‘FPC‐like’ index cases who did not fulfilled strict FPC definition but were evocative for a PDAC predisposition. The overall rate of genetic diagnosis (in BRCA1, BRCA2, CDKN2A, and ATM genes) was 8.3% in FPC patients and 4.6% in FPC‐like patients, consistent with the literature in other populations. Genetic variants were also identified in FANCA and BAP1 genes, as well as in the CDKN2A p12 transcript. This pancreas‐specific transcript is a known key player in driving pancreatic oncogenesis. This might be the first described case of a PDAC genetic predisposition due to a variant in this specific transcript.

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High risk of multiple gastric cancers in Japanese individuals with Lynch syndrome

Kanaya,

van Schaik,

Aoki

et al. 2024

Annals of Gastroent Surgery

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AimLynch syndrome (LS) is a dominantly inherited syndrome characterized by an increased risk for LS associated tumors such as colorectal cancer (CRC) and gastric cancer (GC). However, the clinical benefit of surveillance for GC remains unclear while it has already been recommended for CRC. This study aimed to elucidate the clinical features of GC in Japanese individuals with LS, and the risk of developing multiple GCs to build regional‐tailored surveillance programs in LS patients with GC.MethodsData on Japanese individuals with LS were retrospectively collected from a single institution. The clinical features of GC, including the cumulative risk of multiple GCs, were analyzed.ResultsAmong 96 individuals with LS (MLH1/MSH2/MSH6, 75:20:1), 32 GC lesions were detected in 15 individuals with LS (male/female, 11:4). The median age at initial GC diagnosis was 52.7 y (range: 28–71). Histological examination revealed a predominance of intestinal type (19/24: 87.5%). Moreover, the majority of the GC lesions (82%) were determined to have high‐frequency of microsatellite instability. The cumulative risk of individuals with LS developing GC at 70 y was 31.3% (MLH1 36.1%, MSH2 18.0%). Notably, the cumulative risk of individuals with LS developing metachronous and/or synchronous GCs at 0, 10 and 20 y after initial diagnosis of GC was 26.7%, 40.7%, and 59.4%, respectively.ConclusionDue to a higher risk of developing multiple GCs, intensive surveillance might be especially recommended for Japanese individuals with LS associated initial GC.

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Screening and surveillance in hereditary gastrointestinal cancers: Recommendations from the European Society of Digestive Oncology (ESDO) expert discussion at the 20th European Society for Medical Oncology (ESMO)/World Congress on Gastrointestinal Cancer, Barcelona, June 2018

Cited by 63 publications

References 76 publications

Erbliche Polyposis und Darmkrebserkrankungen

Erbliche Polyposis und Darmkrebserkrankungen

Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort

High risk of multiple gastric cancers in Japanese individuals with Lynch syndrome

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