Mapping psychosocial interventions in familial colorectal cancer: a rapid systematic review.

BACKGROUND: Approximately 5% of colorectal cancer (CRC) cases are part of a well-defined inherited genetic syndrome and up to approximately 30% of these cases have a clinically defined familial basis. Psychosocial interventions in familial colorectal cancer address aspects mainly focused on affective, cognitive and behavioural outcomes. The present review aims to systematically map out the available psychosocial interventions for individuals with a family history of CRC and describe the current state of the research. METHODS: An extensive electronic search was conducted to investigate the literature published until June 2020. Inclusion criteria consisted of quantitative studies published in English that explored the impact of psychosocial interventions for familial CRC, clearly defined the psychosocial intervention offered and included participants with a family history of CRC. RESULTS: The analysis included 52 articles. Genetic counselling, educational interventions, psychological interventions and multimodal interventions were identified across the studies. In terms of diagnoses, Lynch Syndrome, Familial Adenomatous Polyposis, Familial Colorectal Cancer were the main conditions included in the studies. Affective, cognitive, behavioural aspects and quality of life emerged as the most frequently explored outcomes. The studies included individuals with both personal and familial history of CRC or family history alone. CONCLUSIONS: Our rapid review provides an overview of the literature exploring the impact of psychosocial interventions for familial CRC. The psychosocial interventions identified had an overwhelmingly positive impact across all types of outcomes measured. Genetic counselling appeared to be most beneficial, and this is expected as it is purposively designed to address genetic conditions. Further quantitative analysis of primary empirical research is needed to determine the efficacy and effectiveness of psychosocial interventions as well as the mechanisms through which they exert their effect.

The missing heritability of familial colorectal cancer.

Pinpointing heritability factors is fundamental for the prevention and early detection of cancer. Up to one-quarter of colorectal cancers (CRCs) occur in the context of familial aggregation of this disease, suggesting a strong genetic component. Currently, only less than half of the heritability of CRC can be attributed to hereditary syndromes or common risk loci. Part of the missing heritability of this disease may be explained by the inheritance of elusive high-risk variants, polygenic inheritance, somatic mosaicism, as well as shared environmental factors, among others. A great deal of the missing heritability in CRC is expected to be addressed in the coming years with the increased application of cutting-edge next-generation sequencing technologies, routine multigene panel testing and tumour-focussed germline predisposition screening approaches. On the other hand, it will be important to define the contribution of environmental factors to familial aggregation of CRC incidence. This review provides an overview of the known genetic causes of familial CRC and aims at providing clues that explain the missing heritability of this disease.

Clinical guideline SEOM: hereditary colorectal cancer

Genetic mutations have been identified as the cause of inherited cancer risk in some colon cancer; these mutations are estimated to account for only 5-6 % of colorectal cancer (CRC) cases overall. Up to 25-30 % of patients have a family history of CRC that suggests a hereditary component, common exposures among family members, or a combination of both. Cancers in people with a hereditary predisposition typically occur at an earlier age than in sporadic cases. A predisposition to CRC may include a predisposition to other cancers, such as endometrial cancer. We describe genetics, current diagnosis and management of CRC hereditary syndromes pointing to a multidisciplinary approach to achieve the best results in patients and family outcomes (AU)

No disponible

Frequency of small bowel polyps in patients with duodenal adenoma but without familial adenomatous polyposis.

INTRODUCTION: It is uncertain whether patients with duodenal adenomas without familial adenomatous polyposis (FAP) are at greater risk for small bowel neoplasia. We therefore conducted a study to determine the frequency of small bowel polyps in patients with non-papillary duodenal adenomas using capsule endoscopy for small bowel examination. PATIENTS AND METHODS: 14 patients (8 women, 6 men; mean age 67 +/- 10 years; range: 49 - 77 years) with non-papillary duodenal adenomas without FAP were included. All patients underwent wireless capsule endoscopy. The results were compared with an age- and sex-matched cohort of patients undergoing capsule endoscopy for suspected small bowel disease. RESULTS: Overall, 15 polyps ranging between 1 and 8 mm in diameter were detected in eight patients of the study group, whereas no polyps could be identified in the control group. Natural excretion of the capsule within 24 hours was always reported and no complications were reported by any of the patients. Other pathological findings were multiple angiodysplasias in two patients of the study group. In the control group capsule endoscopy detected angiodysplasias in 5 patients with the indication obscure gastrointestinal bleeding, and inflammatory lesions in 2 patients with suspected Crohn's disease. CONCLUSIONS: Based on the results of this prospective study, the frequency of small bowel polyps in patients with duodenal adenomas without familial adenomatous polyposis appears to be increased compared with a control group undergoing capsule endoscopy for other reasons. In none of the patients was the management altered. Follow-up data of these patients will be needed.