Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer
Abstract Background Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers. Earlier identification of Lynch syndrome patients enables surveillance and might reduce the risk of cancer. It is important...
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doaj-4b8e88df3ced4663b96628f389e7ae132021-02-14T12:43:56ZengBMCHereditary Cancer in Clinical Practice1897-42872021-02-011911810.1186/s13053-021-00171-4Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancerSophie Walton Bernstedt0Jan Björk1Kaisa Fritzell2Allan D. Spigelman3Erik Björck4Ann-Sofie Backman5Department of Medicine Solna, Karolinska InstitutetDepartment of Medicine Solna, Karolinska InstitutetPatient flow Hereditary Cancer, Cancer Theme, Karolinska University HospitalSt Vincent’s Genetics Clinic, The Kinghorn Cancer CentreDepartment of Molecular Medicine and Surgery, Karolinska InstitutetDepartment of Medicine Solna, Karolinska InstitutetAbstract Background Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers. Earlier identification of Lynch syndrome patients enables surveillance and might reduce the risk of cancer. It is important to explore whether today’s clinical care discovers patients with Lynch syndrome suitable for surveillance in time. This study aimed to describe what led to a diagnosis of Lynch syndrome in the cohort referred to the Hereditary Gastrointestinal Cancer Unit, Karolinska University Hospital, Solna, Sweden for gastrointestinal surveillance. Methods This was a descriptive study. Data from 1975 to 2018 were collected and compiled as a database. Age at diagnosis was calculated from the date when a pathogenic MMR gene mutation was confirmed, from the period June 1994–September 2018. Data were collected from patient protocols prospectively during patient consultations and medical records retrospectively. Criteria for inclusion were registration at the outpatient clinic and a confirmed mismatch repair gene mutation. Results A total of 305 patients were eligible for inclusion. Three major reasons for diagnosis were identified: 1. Predictive testing of a previously known mutation in the family (62%, mean age 37), 2. A family history of Lynch associated tumours (9%, mean age 37), 3. A diagnosis of cancer (29%, mean age 51). The proportion diagnosed due to cancer has not changed over time. Conclusion A high proportion of patients (29%) were identified with Lynch syndrome after they had been diagnosed with an associated cancer, which suggests that there is significant room for improvement in the diagnosis of patients with Lynch syndrome before cancer develops.https://doi.org/10.1186/s13053-021-00171-4Lynch syndromeColorectal cancerGenetic testingMismatch repair genesCancer prevention |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sophie Walton Bernstedt Jan Björk Kaisa Fritzell Allan D. Spigelman Erik Björck Ann-Sofie Backman |
spellingShingle |
Sophie Walton Bernstedt Jan Björk Kaisa Fritzell Allan D. Spigelman Erik Björck Ann-Sofie Backman Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer Hereditary Cancer in Clinical Practice Lynch syndrome Colorectal cancer Genetic testing Mismatch repair genes Cancer prevention |
author_facet |
Sophie Walton Bernstedt Jan Björk Kaisa Fritzell Allan D. Spigelman Erik Björck Ann-Sofie Backman |
author_sort |
Sophie Walton Bernstedt |
title |
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer |
title_short |
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer |
title_full |
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer |
title_fullStr |
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer |
title_full_unstemmed |
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer |
title_sort |
room for improvement: one third of lynch syndrome patients presenting for genetic testing in a highly specialised centre in stockholm already have cancer |
publisher |
BMC |
series |
Hereditary Cancer in Clinical Practice |
issn |
1897-4287 |
publishDate |
2021-02-01 |
description |
Abstract Background Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers. Earlier identification of Lynch syndrome patients enables surveillance and might reduce the risk of cancer. It is important to explore whether today’s clinical care discovers patients with Lynch syndrome suitable for surveillance in time. This study aimed to describe what led to a diagnosis of Lynch syndrome in the cohort referred to the Hereditary Gastrointestinal Cancer Unit, Karolinska University Hospital, Solna, Sweden for gastrointestinal surveillance. Methods This was a descriptive study. Data from 1975 to 2018 were collected and compiled as a database. Age at diagnosis was calculated from the date when a pathogenic MMR gene mutation was confirmed, from the period June 1994–September 2018. Data were collected from patient protocols prospectively during patient consultations and medical records retrospectively. Criteria for inclusion were registration at the outpatient clinic and a confirmed mismatch repair gene mutation. Results A total of 305 patients were eligible for inclusion. Three major reasons for diagnosis were identified: 1. Predictive testing of a previously known mutation in the family (62%, mean age 37), 2. A family history of Lynch associated tumours (9%, mean age 37), 3. A diagnosis of cancer (29%, mean age 51). The proportion diagnosed due to cancer has not changed over time. Conclusion A high proportion of patients (29%) were identified with Lynch syndrome after they had been diagnosed with an associated cancer, which suggests that there is significant room for improvement in the diagnosis of patients with Lynch syndrome before cancer develops. |
topic |
Lynch syndrome Colorectal cancer Genetic testing Mismatch repair genes Cancer prevention |
url |
https://doi.org/10.1186/s13053-021-00171-4 |
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