Advanced

Hereditary colorectal cancer diagnostics in southern Sweden : retrospective evaluation and future considerations with emphasis on Lynch syndrome

Henriksson, Isabelle; Henriksson, Karin LU ; Ehrencrona, Hans LU and Gebre-Medhin, Samuel LU (2018) In Journal of Community Genetics
Abstract

Overlapping phenotypes between different hereditary colorectal cancer (CRC) syndromes together with a growing demand for cancer genetic testing and improved sequencing technology call for adjusted patient selection and adapted diagnostic routines. Here we present a retrospective evaluation of family history of cancer, laboratory diagnostic procedure, and outcome for 372 patients tested for Lynch syndrome (LS), i.e., the single most common hereditary cause of CRC. Based on number of affected family members and age at cancer diagnosis in families with genetically confirmed LS, we developed local patient selection criteria for a simplified one-step gene panel mutation screening strategy targeting also less common Mendelian CRC syndromes.... (More)

Overlapping phenotypes between different hereditary colorectal cancer (CRC) syndromes together with a growing demand for cancer genetic testing and improved sequencing technology call for adjusted patient selection and adapted diagnostic routines. Here we present a retrospective evaluation of family history of cancer, laboratory diagnostic procedure, and outcome for 372 patients tested for Lynch syndrome (LS), i.e., the single most common hereditary cause of CRC. Based on number of affected family members and age at cancer diagnosis in families with genetically confirmed LS, we developed local patient selection criteria for a simplified one-step gene panel mutation screening strategy targeting also less common Mendelian CRC syndromes. Pros and cons of this strategy are discussed.

(Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
Cancer, Colorectal, Gene panel, Hereditary, Screening
in
Journal of Community Genetics
publisher
Springer
external identifiers
  • scopus:85053858663
ISSN
1868-310X
DOI
10.1007/s12687-018-0385-1
language
English
LU publication?
yes
id
8f5229a5-f723-4b6f-bc6f-30e67bc8a7b3
date added to LUP
2018-10-23 11:01:13
date last changed
2019-02-20 11:33:05
@article{8f5229a5-f723-4b6f-bc6f-30e67bc8a7b3,
  abstract     = {<p>Overlapping phenotypes between different hereditary colorectal cancer (CRC) syndromes together with a growing demand for cancer genetic testing and improved sequencing technology call for adjusted patient selection and adapted diagnostic routines. Here we present a retrospective evaluation of family history of cancer, laboratory diagnostic procedure, and outcome for 372 patients tested for Lynch syndrome (LS), i.e., the single most common hereditary cause of CRC. Based on number of affected family members and age at cancer diagnosis in families with genetically confirmed LS, we developed local patient selection criteria for a simplified one-step gene panel mutation screening strategy targeting also less common Mendelian CRC syndromes. Pros and cons of this strategy are discussed.</p>},
  author       = {Henriksson, Isabelle and Henriksson, Karin and Ehrencrona, Hans and Gebre-Medhin, Samuel},
  issn         = {1868-310X},
  keyword      = {Cancer,Colorectal,Gene panel,Hereditary,Screening},
  language     = {eng},
  month        = {09},
  publisher    = {Springer},
  series       = {Journal of Community Genetics},
  title        = {Hereditary colorectal cancer diagnostics in southern Sweden : retrospective evaluation and future considerations with emphasis on Lynch syndrome},
  url          = {http://dx.doi.org/10.1007/s12687-018-0385-1},
  year         = {2018},
}