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INTRODUCCION El Registro de Cancer Colorrectal Hereditario es uno de los registros mas antiguos y mas grandes de su tipo. Incluye a los pacientes con todos los sindromes hereditarios de cancer colorrectal, utilizando los tres enfoques basicos, la atencion al paciente, la educacion y la investigacion. Este articulo resume la estructura y funcion del registro, y da ejemplos de sus contribuciones al manejo de los pacientes afectados. ACTIVIDAD En el ano 2016 el registro atendio a mas de 1000 familias con poliposis adenomatosa familiar, 224 familias con sindrome de Lynch, 61 con poliposis asociada a MYH y 146 con poliposis hamartomatosa. En el ano 2016 hubo 1009 visitas de pacientes con 80 nuevos pacientes y 879 endoscopias. Se realizaron mas de 60 cirugias. RESUMEN Se describe el enfoque de “Cleveland Clinic” para el cancer colorrectal hereditario. Esto es multidisciplinario, involucrando varias especialidades y asi como servicios de asesoramiento genetico y de salud mental dentro del registro.

Background: Patients fulfilling Amsterdam-1 criteria without mismatch repair deficiency (termed familial colorectal cancer type X (FCC type X)) were reported to have lower cancer risks than classic Lynch syndrome. This study investigates the polyp and cancer burden of this population and demonstrates relationships with a family history score (FHS). Methods: The Jagelman Registry was queried for patients meeting Amsterdam criteria with microsatellite stable/low colorectal cancers. The risk of colorectal neoplasia was ascertained using a published FHS. Polyp distribution, histology and cumulative counts as well as extra-colonic tumours in the pedigree were reviewed. Results: Twenty-one patients (9 males, 12 females) met study criteria. The median lifetime polyp count was 3 (range 1–36). FHS ≥ 8 (80%) was significantly associated with an increased risk of colorectal cancer compared with those with scores

Patients fulfilling Amsterdam-1 criteria without mismatch repair deficiency (termed familial colorectal cancer type X (FCC type X)) were reported to have lower cancer risks than classic Lynch syndrome. This study investigates the polyp and cancer burden of this population and demonstrates relationships with a family history score (FHS).The Jagelman Registry was queried for patients meeting Amsterdam criteria with microsatellite stable/low colorectal cancers. The risk of colorectal neoplasia was ascertained using a published FHS. Polyp distribution, histology and cumulative counts as well as extra-colonic tumours in the pedigree were reviewed.Twenty-one patients (9 males, 12 females) met study criteria. The median lifetime polyp count was 3 (range 1–36). FHS 8 (80%) was significantly associated with an increased risk of colorectal cancer compared with those with scores8 who are more likely to develop polyps (P0.01). Twelve patients (57%) had predominantly left-sided polyps. Ten colorectal cancers (7 left-sided, 3 right-sided) were diagnosed at a median age of 48 (range 30–74) years. Only three tumours were mucinous or demonstrated tumour-infiltrating lymphocytes, typical of high microsatellite instability tumours. All patients had family history of colorectal cancers (CRCs) and at least 10 patients had a family history of uterine or breast cancer. One patient was found to have hyperplastic polyposis syndrome.FCC type X likely represents a heterogenous group of as yet undefined CRC predispositions. The polyp burden and cancer risk are variable and can be somewhat delineated according to an FHS.

Background Assessing family history risk of colorectal cancer (CRC) is often difficult due to complex permutations and combinations. A family history score has been developed and validated to simplify familial risk assessment. This study examines the usefulness of this scoring system to identify families at risk through public outreach programs.