Evidenced-Based Screening Strategies for a Positive Family History

Kolb, Jennifer M.; Ahnen, Dennis J.; Samadder, N. Jewel

doi:10.1016/j.giec.2020.02.015

Cited by 9 publications

(8 citation statements)

References 73 publications

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“…Another noteworthy aspect of the CRC screening guidelines that can be applied to GC screening is the consideration of a family history of advanced colorectal adenoma, a precancerous lesion (24,25). This was based on research findings that a family history of precancerous lesions also affects the risk of CRC (24,25,29).…”

Section: Discussionmentioning

confidence: 99%

Association Between Family History of Gastric Cancer and the Risk of Gastric Cancer and Adenoma: A Nationwide Population-Based Study

et al. 2022

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INTRODUCTION: A family history of gastric cancer (GC) is a well-known risk factor for GC. However, the association between family history of GC and the risk of GC and gastric adenoma according to the affected family members is unclear. METHODS:We analyzed the data of participants aged ‡40 years who underwent national GC screening between 2013 and 2014. Participants with and without a family history of GC among first-degree relatives were matched by age and sex in a 1:4 ratio. RESULTS:During a median follow-up of 4.9 years, 0.96% and 0.46% of 896,721 participants with a family history of GC and 0.65% and 0.32% of 3,586,884 participants without a family history of GC developed GC and gastric adenoma, respectively. A family history of GC among any first-degree relative was a risk factor for GC (adjusted hazard ratio [HR] 1.48, 95% confidence interval 1.45-1.52) and gastric adenoma (HR 1.44, 95% confidence interval 1.39-1.50). The HRs for GC and gastric adenoma were higher in participants with a family history of GC in parents and siblings (2.26 and 2.19, respectively) than in those with a family history of GC in parents only (1.40 and 1.41, respectively) or siblings only (1.59 and 1.47, respectively). The HRs for GC in participants with vs without a family history of GC were 1.62, 1.55, and 1.42 in the 40-49, 50-59, and ‡60 years' age groups of participants, respectively. Similarly, the HRs for gastric adenoma increased with decreasing age of participants. DISCUSSION:A family history of GC was a risk factor for both GC and gastric adenoma. The risk of GC and gastric adenoma of the participants was higher when both parents and siblings had GC.

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Section: Discussionmentioning

confidence: 99%

Association Between Family History of Gastric Cancer and the Risk of Gastric Cancer and Adenoma: A Nationwide Population-Based Study

et al. 2022

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“…7,8 The diagnosis of an early-onset (before the age of 50 years) gastrointestinal cancer, whether gastric or colorectal cancer, is devastating for any patient. [9][10][11] The field of primary immunodeficiencies has progressed considerably with recent advances in genetic sequencing technology, which are facilitating genetic diagnosis and discoveries. Defects of more than 400 genes, some dominant and others recessive, have been shown to cause wide-ranging immunodysregulation, with complete or incomplete penetrance.…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis of an early‐onset (before the age of 50 years) gastrointestinal cancer, whether gastric or colorectal cancer, is devastating for any patient 9–11 . The field of primary immunodeficiencies has progressed considerably with recent advances in genetic sequencing technology, which are facilitating genetic diagnosis and discoveries.…”

Section: Introductionmentioning

confidence: 99%

Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans

Zheng

Artin

Chung

et al. 2022

J of Gastro and Hepatol

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Background and Aim: Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be associated with a potential risk factor for early-onset gastrointestinal (GI) cancer. Methods:We systematically reviewed all cases with clinical diagnoses of both an IEI and a GI cancer in three databases (MEDLINE, SCOPUS, and EMBASE). In total, 76 publications satisfying our inclusion criteria were identified, and data for 149 cases were analyzed. We also searched our institutional cancer registry for such cases. Results: We identified 149 patients with both an IEI and a GI cancer, 95 presented gastric cancer, 13 small bowel cancer, 35 colorectal cancer, and 6 had an unspecified cancer or cancer at another site. Gastric and colon adenocarcinomas were the most common. For both gastric and colorectal cancers, age at onset was significantly earlier in patients with IEIs than in the general population, based on the SEER database. Common variable immunodeficiency (CVID) was the most common IEI associated with gastrointestinal cancer. About 12% of patients had molecular genetic diagnoses, the three most frequently implicated genes being ATM, CARMIL2, and CTLA4. Impaired humoral immunity and Epstein-Barr virus (EBV) infection were frequently reported as factors potentially underlying early-onset GI cancers in patients with IEIs. We identified one patient with CVID and early-onset gastric adenocarcinoma, recurrent diarrhea, and gastrointestinal CMV infection from a retrospective survey. Conclusion:Patients with IEIs should be considered at risk of early-onset GI cancers and should therefore undergo cancer screening at an earlier age.

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“…The diagnosis of an early-onset (before the age of 50 years) gastrointestinal cancer, whether gastric or colorectal cancer, is devastating for any patient [9][10][11]. In 5-6% of patients with gastrointestinal cancers, the cancer can be directly attributed to well-established germline genetic factors.…”

Section: Introductionmentioning

confidence: 99%

Immunogenetics of Gastrointestinal Cancers: A Systematic Review of Inborn Errors of Immunity in Humans

Zheng

Chung

Chen

et al. 2022

Preprint

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Background/Aims: The immune system plays a key role in cancer surveillance and modulation of the tumor microenvironment. Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be prone to recurrent mucosal bacterial and viral infections and chronic inflammation, associated with intrinsic or secondary epithelium dysfunction, a potential risk factor for early-onset gastrointestinal (GI) cancer. Methods: We systematically reviewed all cases with clinical diagnoses of both an IEI and a GI cancer in three databases (MEDLINE, SCOPUS, EMBASE). In total, 76 publications satisfying our inclusion criteria were identified, and data for 149 cases were analyzed. Results: Of the 149 patients with IEIs, 95 presented with gastric cancer, 13 with small bowel cancer, 35 with colorectal cancer, and six with unspecified cancer or cancer at another site. Gastric and colonic adenocarcinoma was the most common. For both gastric and colorectal cancer, age at onset was significantly earlier in patients with IEIs than in the general population, based on the SEER database. Common variable immune deficiency (CVID) was the most common IEI associated with gastrointestinal cancer. About 12% of patients had molecular genetic diagnoses, the three most frequently implicated genes being ATM, CARMIL2, CTLA4. Impaired humoral immunity and Epstein-Barr virus (EBV) infection were frequently reported as the factors potentially underlying early-onset GI malignancy in patients with IEIs. Conclusion: Patients with IEIs should be considered at risk of early-onset GI cancers, and should therefore undergo cancer screening at an earlier age. Surveillance guidance based on stratifications for genetic risk should be revised to take into account the immunogenetic contribution to GI cancers.

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Evidenced-Based Screening Strategies for a Positive Family History

Cited by 9 publications

References 73 publications

Association Between Family History of Gastric Cancer and the Risk of Gastric Cancer and Adenoma: A Nationwide Population-Based Study

Association Between Family History of Gastric Cancer and the Risk of Gastric Cancer and Adenoma: A Nationwide Population-Based Study

Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans

Immunogenetics of Gastrointestinal Cancers: A Systematic Review of Inborn Errors of Immunity in Humans

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