SEOM clinical guideline on hereditary colorectal cancer (2019)

Guillén‐Ponce, Carmen; Lastra, Enrique; Lorenzo-Lorenzo, Isabel; Gómez, Teresa; Chamorro, Rafael Morales; Sanchez-Heras, A. B.; Serrano, Raquel; Rodríguez, Mari Carmen; Soto, José Luís; Robles, Luis

doi:10.1007/s12094-019-02272-y

Cited by 14 publications

(6 citation statements)

References 50 publications

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“…Table 2 summarizes the standardized domain scores of the AGREE II and the overall quality rating of the CPGs. As per the pre-defined criteria of this study, 84.8% of CPGs (28) were considered “high quality” [ 23 – 28 , 30 – 33 , 39 , 45 , 55 – 66 ], 12.0% of CPGs (4) were assessed as “moderate quality” [ 22 , 38 , 44 , 52 , 67 – 70 ] and 3.0% CPGs (1) were considered as “low quality” [ 29 ]. A moderate agreement was present across all appraisers in this study (average measures ICC = 0.6; 95% CI 0.4, 0.7).…”

Section: Resultsmentioning

confidence: 99%

Assessing the methodological strengths and limitations of the Spanish Society of Medical Oncology (SEOM) guidelines: a critical appraisal using AGREE II and AGREE-REX tool

et al. 2023

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Background The Spanish Society of Medical Oncology (SEOM) has provided open-access guidelines for cancer since 2014. However, no independent assessment of their quality has been conducted to date. This study aimed to critically evaluate the quality of SEOM guidelines on cancer treatment. Methods Appraisal of Guidelines for Research and Evaluation II (AGREE II) and AGREE-REX tool was used to evaluate the qualities of the guidelines. Results We assessed 33 guidelines, with 84.8% rated as “high quality”. The highest median standardized scores (96.3) were observed in the domain “clarity of presentation”, whereas “applicability” was distinctively low (31.4), with only one guideline scoring above 60%. SEOM guidelines did not include the views and preferences of the target population, nor did specify updating methods. Conclusions Although developed with acceptable methodological rigor, SEOM guidelines could be improved in the future, particularly in terms of clinical applicability and patient perspectives.

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Section: Resultsmentioning

confidence: 99%

Assessing the methodological strengths and limitations of the Spanish Society of Medical Oncology (SEOM) guidelines: a critical appraisal using AGREE II and AGREE-REX tool

et al. 2023

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“…Lynch syndrome predisposes patients to colorectal and endometrial cancer, among others. 40 It is mainly caused by germline PVs/LPVs in the MMR genes ( MLH1 , MSH2 , MSH6 and PMS2 ) and the EPCAM gene and, as a consequence, tumours from patients with Lynch syndrome display loss of expression of MMR proteins, microsatellite instability and increased hypermutation phenotype. 38 40 41 With this evidence, screening for Lynch syndrome includes tumour IHC of MMR proteins and/or microsatellite instability analysis in all colorectal and endometrial cancers.…”

Section: Discussionmentioning

confidence: 99%

“…48 No available evidence exists regarding prophylactic colectomy in healthy individuals diagnosed with Lynch syndrome. 40 Regarding gastric cancer surveillance in these patients, the ESMO recommends the surveillance with upper endoscopy in families with a history of gastric neoplasms and testing for Helicobacter pylori . 51 The NCCN recommends upper gastrointestinal surveillance with esophagogastroduodenoscopy and colonoscopy, and biopsy to assess for H. pylori .…”

Section: Discussionmentioning

confidence: 99%

Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer

Fernández-Castillejo,

Roig,

Melé

et al. 2023

J Med Genet

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BackgroundMultigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a certain cancer phenotype. Opportunistic genetic screening based on MGP-NGS in patients with suspicion of hereditary cancer reveals these incidental findings (IFs).MethodsMGP-NGS was performed in patients who fulfilled the clinical criteria to undergo genetic testing according to the Catalan Health Service guidelines. Variants were classified following the American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines and the Cancer Variant Interpretation Group UK guidelines.ResultsIFs were identified in 10 (1.22%) of the 817 patients who underwent MGP-NGS. The mean age at cancer diagnosis was 49.4±9.5 years. Three IFs (30.0%) were detected inPMS2, two (20.0%) inATMandTP53and one (10.0%) inMSH6, NTHL1andVHL. Seven (70.0%) IFs were single-nucleotide substitutions, two (20.0%) were deletions and one (10.0%) was a duplication. Three (30.0) IFs were located in intronic regions, three (30.3%) were nonsense, two (20.0%) were frameshift and two (20.0%) were missense variations. Six (60.0%) IFs were classified as PVs and four (40.0%) as LPVs.ConclusionsOpportunistic genetic screening increased the diagnostic yield by 1.22% in our cohort. Most of the identified IFs were present in clinically actionable genes (n=7; 70.0%), providing these families with an opportunity to join cancer early detection programmes, as well as secondary cancer prevention. IFs might facilitate the diagnosis of asymptomatic individuals and the early management of cancer once it develops.

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“…Families fulfilling the selection criteria defined in the SEOM (Spanish Society of Medical Oncology): clinical guidelines for HBOC [ 8 ] or LS [ 9 ] were referred for BRCA or MMR genetic testing from our Cancer Genetic Counseling Units (CGUs) of the Hereditary Cancer Program of the Regional Government of Castilla and León (Spain). The eligible individual for genetic testing was, if possible, the youngest breast cancer (BC), ovarian cancer (OC) or colorectal cancer patient, but mutation screening was occasionally offered to a healthy person if there were no cases of BC, OC, or CRC available for testing.…”

Section: Methodsmentioning

confidence: 99%

Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?

Infante

Arranz-Ledo

Lastra

et al. 2022

IJMS

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The probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon, except in populations where founder effects exist. Two breast cancer women that are double heterozygotes (DH) for both BRCA1/BRCA2, one ovarian cancer case DH for BRCA1/RAD51C, and another breast and colorectal cancer who is DH for BRCA2/PMS2 were identified in our cohort. Ages at diagnosis and severity of disease in BRCA1/BRCA2 DH resembled BRCA1 single-carrier features. Similarly, the co-existence of the BRCA2 and PMS2 mutations prompted the development of breast and colorectal cancer in the same patient. The first BRCA1/BRCA2 DH was identified by HA-based and Sanger sequencing (1 of 623 families with BRCA PVs). However, this ratio has increased up to 2.9% (1 DH carrier vs. 103 single PV carriers) since using a custom 35-cancer gene on-demand panel. The type of cancer developed in each DH patient was consistent with the independently inherited condition, and the clinical outcome was no worse than in patients with single BRCA1 mutations. Therefore, the clinical impact, especially in patients with two hereditary syndromes, lies in genetic counseling tailor-made for each family based on the clinical guidelines for each syndrome. The number of DH is expected to be increased in the future as a result of next generation sequencing routines.

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SEOM clinical guideline on hereditary colorectal cancer (2019)

Cited by 14 publications

References 50 publications

Assessing the methodological strengths and limitations of the Spanish Society of Medical Oncology (SEOM) guidelines: a critical appraisal using AGREE II and AGREE-REX tool

Assessing the methodological strengths and limitations of the Spanish Society of Medical Oncology (SEOM) guidelines: a critical appraisal using AGREE II and AGREE-REX tool

Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer

Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?

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