Progress report: Peutz–Jeghers syndrome

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Progress report : Peutz–Jeghers syndrome. / Jelsig, Anne Marie; Karstensen, John Gásdal; Overeem Hansen, Thomas V.

In: Familial Cancer, 2024.

Research output: Contribution to journal › Review › Research › peer-review

Harvard

Jelsig, AM, Karstensen, JG & Overeem Hansen, TV 2024, 'Progress report: Peutz–Jeghers syndrome', Familial Cancer. https://doi.org/10.1007/s10689-024-00362-7

APA

Jelsig, A. M., Karstensen, J. G., & Overeem Hansen, T. V. (Accepted/In press). Progress report: Peutz–Jeghers syndrome. Familial Cancer. https://doi.org/10.1007/s10689-024-00362-7

Vancouver

Jelsig AM, Karstensen JG, Overeem Hansen TV. Progress report: Peutz–Jeghers syndrome. Familial Cancer. 2024. https://doi.org/10.1007/s10689-024-00362-7

Author

Jelsig, Anne Marie ; Karstensen, John Gásdal ; Overeem Hansen, Thomas V. / Progress report : Peutz–Jeghers syndrome. In: Familial Cancer. 2024.

Bibtex

@article{b748bedfd1f24c5b9ca654d5974d8eb7,
title = "Progress report: Peutz–Jeghers syndrome",
abstract = "Peutz–Jeghers syndrome is a rare, autosomal dominant polyposis syndrome. Presenting with a remarkable phenotype including development of characteristic gastrointestinal polyps, mucocutaneous pigmentations, and an increased risk of cancer, the syndrome has been subject to many studies concerning the natural course of disease. In most patients, pathogenic germline variants are detected in the STK11 gene including cases of mosaicism and structural variants. Yet, studies assessing the effect of surveillance, understanding of cancer development, as well as clinical studies evaluating chemoprevention are lacking. In addition, the impact of Peutz–Jeghers syndrome on mental health, education, and family planning are insufficiently addressed. In this progress report, we describe current knowledge, clinical phenotype, surveillance strategies, and future areas of research.",
keywords = "Germline, Hamartomatous, Hereditary, Peutz–Jeghers syndrome, Polyposis, STK11",
author = "Jelsig, {Anne Marie} and Karstensen, {John G{\'a}sdal} and {Overeem Hansen}, {Thomas V.}",
note = "Publisher Copyright: {\textcopyright} The Author(s), under exclusive licence to Springer Nature B.V. 2024.",
year = "2024",
doi = "10.1007/s10689-024-00362-7",
language = "English",
journal = "Familial Cancer",
issn = "1389-9600",
publisher = "Springer",

}

RIS

TY - JOUR

T1 - Progress report

T2 - Peutz–Jeghers syndrome

AU - Jelsig, Anne Marie

AU - Karstensen, John Gásdal

AU - Overeem Hansen, Thomas V.

N1 - Publisher Copyright: © The Author(s), under exclusive licence to Springer Nature B.V. 2024.

PY - 2024

Y1 - 2024

N2 - Peutz–Jeghers syndrome is a rare, autosomal dominant polyposis syndrome. Presenting with a remarkable phenotype including development of characteristic gastrointestinal polyps, mucocutaneous pigmentations, and an increased risk of cancer, the syndrome has been subject to many studies concerning the natural course of disease. In most patients, pathogenic germline variants are detected in the STK11 gene including cases of mosaicism and structural variants. Yet, studies assessing the effect of surveillance, understanding of cancer development, as well as clinical studies evaluating chemoprevention are lacking. In addition, the impact of Peutz–Jeghers syndrome on mental health, education, and family planning are insufficiently addressed. In this progress report, we describe current knowledge, clinical phenotype, surveillance strategies, and future areas of research.

AB - Peutz–Jeghers syndrome is a rare, autosomal dominant polyposis syndrome. Presenting with a remarkable phenotype including development of characteristic gastrointestinal polyps, mucocutaneous pigmentations, and an increased risk of cancer, the syndrome has been subject to many studies concerning the natural course of disease. In most patients, pathogenic germline variants are detected in the STK11 gene including cases of mosaicism and structural variants. Yet, studies assessing the effect of surveillance, understanding of cancer development, as well as clinical studies evaluating chemoprevention are lacking. In addition, the impact of Peutz–Jeghers syndrome on mental health, education, and family planning are insufficiently addressed. In this progress report, we describe current knowledge, clinical phenotype, surveillance strategies, and future areas of research.

KW - Germline

KW - Hamartomatous

KW - Hereditary

KW - Peutz–Jeghers syndrome

KW - Polyposis

KW - STK11

U2 - 10.1007/s10689-024-00362-7

DO - 10.1007/s10689-024-00362-7

M3 - Review

C2 - 38493229

AN - SCOPUS:85187933307

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

ER -

ID: 387870831