Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

Research output: Contribution to journalReviewResearchpeer-review

DOI

  1. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

    Research output: Contribution to journalReviewResearchpeer-review

  4. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, APC in familial adenomatous polyposis and STK11 in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient's family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10-12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.

Original languageEnglish
Article number295157
JournalThe Application of Clinical Genetics
Volume14
Pages (from-to)455-466
Number of pages12
ISSN1178-704X
DOIs
Publication statusPublished - 27 Nov 2021

Bibliographical note

© 2021 Jelsig et al.

ID: 69545843