Surveillance of patients with hereditary gastrointestinal cancer syndromes

Moreira, Leticia; Castells, Antoni

doi:10.1016/j.bpg.2016.10.004

Cited by 7 publications

(16 citation statements)

References 87 publications

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“…54–56 Furthermore, Barrow et al 55 found evidence for LS cohort effects and suggested that gastric cancer risk in those born after 1935, a cohort where incidence rates decreased, was not high enough to not justify surveillance. Juvenile Polyposis Syndrome (JPS) is an autosomal dominant disease caused by SMAD4 , BMPR1A or ENG mutations 35,57 and is associated with a lifetime gastric cancer risk of 21%. 58 Peutz-Jeghers Syndrome (PJS), caused by STK11 mutations 35,59 , is another syndrome that has been associated with a gastric cancer lifetime risk of 29%.…”

Section: Introductionmentioning

confidence: 99%

“…60 .Familial Adenomatous Polyposis Syndrome (FAPS) is an autosomal dominant syndrome caused by APC mutations. 35,57 About 2% of all APC mutation carriers develop gastric cancer. 61…”

Section: Introductionmentioning

confidence: 99%

“…LFS follows autosomal dominant inheritance and is caused by TP53 mutations. 35,57 TP53 mutation carriers have a gastric cancer lifetime risk of 2–3%. 62 HBOCS is an autosomal dominant condition associated with BRCA1 and BRCA2 mutations 63 and has a gastric cancer lifetime risk of ~5%.…”

Section: Introductionmentioning

confidence: 99%

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Resolving gastric cancer aetiology: an update in genetic predisposition

Lott

Carvajal‐Carmona

2018

The Lancet Gastroenterology & Hepatology

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Each year, gastric cancer accounts for nearly one million new cases and over 720,000 deaths worldwide. Prognosis is dismal as most patients are diagnosed with advanced gastric cancer. Gastric cancer outcomes will benefit from better ways to identify at risk individuals. An approach to target high-risk populations is to identify those who are genetically predisposed to gastric cancer as up to 15% of all patients report family history of the disease. Based on clinical manifestations, three gastric cancer syndromes have been described but recent findings suggest that the diagnosis of some of these syndromes is sub-optimal and it could benefit from genetic information. Using genome-wide association and next generation sequencing studies, the last decade has seen the identification of low penetrance and high-risk genes that have considerably increased our understanding of gastric cancer risk. PALB2 has emerged as new familial gastric cancer gene from these studies. Furthermore, recent genetic analyses in sporadic patients suggest that >10% of all cases have pathogenic mutations, a finding of great importance for cancer aetiology. In this article, we provide a comprehensive review on the role of genetics in gastric cancer aetiology and the implications of recent genetics findings for the prevention of this malignancy.

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Section: Introductionmentioning

confidence: 99%

“…60 .Familial Adenomatous Polyposis Syndrome (FAPS) is an autosomal dominant syndrome caused by APC mutations. 35,57 About 2% of all APC mutation carriers develop gastric cancer. 61…”

Section: Introductionmentioning

confidence: 99%

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Resolving gastric cancer aetiology: an update in genetic predisposition

Lott

Carvajal‐Carmona

2018

The Lancet Gastroenterology & Hepatology

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“…Patients with CDH1 mutation may get benefits from endoscopic surveillance to determine the time for surgery (52). NCCN guidelines recommends CDH1 pathogenic mutation carriers undergo prophylactic gastrectomy, however, individuals who reject such treatment may consider gastroscopic surveillance with multiple biopsies in every 6-12 months of interval after receiving genetic counseling.…”

Section: Strategies To Gastric Cancer Patients With Germline Mutationsmentioning

confidence: 99%

Germline mutations in hereditary diffuse gastric cancer

Zhang

Feng

et al. 2018

Chinese Journal of Cancer Research

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Gastric cancer is one of the leading causes of cancer-related deaths worldwide. Among which, about 1%-3% of gastric cancer patients were characterized by inherited gastric cancer predisposition syndromes, knowing as hereditary diffuse gastric cancer (HDGC). Studies reported that germline mutations are the main cause of HDGC. With the help of rapid development of genetic testing technologies and data analysis tools, more and more researchers focus on seeking candidate susceptibility genes for hereditary cancer syndromes. In addition, National Comprehensive Cancer Network (NCCN) guidelines recommend that the patients of HDGC carrying mutations should undergo prophylactic gastrectomy or routine endoscopic surveillances. Therefore, genetic counseling plays a key role in helping individuals with pathogenic mutations make appropriate risk management plans. Moreover, experienced and professional genetic counselors as well as a systematic multidisciplinary team (MDT) are also required to facilitate the development of genetic counseling and benefit pathogenic mutation carriers who are in need of regular and standardized risk management solutions. In this review, we provided an overview about the germline mutations of several genes identified in HDGC, suggesting that these genes may potentially act as susceptibility genes for this malignant cancer syndrome. Furthermore, we introduced information for prevention, diagnosis and risk management of HDGC. Investigations on key factors that may have effect on risk management decision-making and genetic data collection of more cancer syndrome family pedigrees are required for the development of HDGC therapeutic strategies.

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“…Because affected patients often harbor occult, early-stage gastric cancer that is only detectable by histopathology, a risk reducing gastrectomy is recommended after the age of 20, or 5 years earlier than the age of diagnosis of the youngest affected family member. For patients who choose not to proceed with risk-reducing gastrectomy, annual endoscopic surveillance is recommended (5). The IGCLC recommends six biopsies from each anatomical zone of the stomach (antrum, transitional zone, body, fundus, and cardia) and any visible lesion (6).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of confocal endoscopic microscopy for detection of early-stage gastric cancer in hereditary diffuse gastric cancer (HDGC) syndrome

Ruff

Curtin

Quezado

et al. 2019

J. Gastrointest. Oncol

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Background: Hereditary diffuse gastric cancer (HDGC) syndrome results most often from a mutation in the CDH1 tumor suppressor gene and confers a 56-70% lifetime risk of gastric cancer. In asymptomatic carriers HDGC is characterized by multiple foci of signet ring cancer cells (SRCC) throughout the gastric mucosa. Because SRCC foci are less than 1 mm in diameter, and often make up less than 2% of the gastric mucosa, they are undetectable on standard screening endoscopy. International consensus guidelines recommend thorough white light endoscopic gastric mapping with a systematic method for gastric biopsies. Despite a painstaking approach to gastric mapping, retrospective analyses have demonstrated a low rate of detection and poor sensitivity of standard white light endoscopy for detecting occult cancer cells. Therefore, a more sensitive cancer screening tool is needed for these high-risk patients. Confocal endoscopic microscopy (CEM) allows for real-time, in vivo histologic imaging of gastrointestinal mucosa during upper endoscopy. Clinical application has demonstrated the ability of CEM to differentiate normal mucosal cells and cancer cells. Methods: A phase II clinical trial is currently underway to compare CEM to standard endoscopic gastric mapping in an effort to reduce the false negative detection rate of SRCC in patients diagnosed with HDGC. After an upper endoscopy with gastric mapping is performed, patients will undergo probe-based CEM. The endoscopist will scan the anatomic zones of the stomach in a similar fashion to the systematic gastric mapping approach. Any abnormal areas visualized with the CEM probe will be biopsied and sent for permanent pathologic analysis. The primary endpoint is to determine if CEM affords a higher sensitivity for detection of SRCC in CDH1 germline mutation carriers compared to white light endoscopy with gastric mapping. Discussion: This novel screening technique is expected to provide greater sensitivity for detecting occult cancer in patients with HDGC, thereby improving cancer risk-assessment and overall cancer care.

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Surveillance of patients with hereditary gastrointestinal cancer syndromes

Cited by 7 publications

References 87 publications

Resolving gastric cancer aetiology: an update in genetic predisposition

Resolving gastric cancer aetiology: an update in genetic predisposition

Germline mutations in hereditary diffuse gastric cancer

Evaluation of confocal endoscopic microscopy for detection of early-stage gastric cancer in hereditary diffuse gastric cancer (HDGC) syndrome

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