Lynch Syndrome for the Gynaecologist

Overview

Journal Obstet Gynaecol

Specialty Gynecology & Obstetrics

Date 2021 Mar 8

PMID 33679238

Citations 14

Authors

Neil Aj Ryan

Raymond Ft McMahon

Neal C Ramchander

Mourad W Seif

D Gareth Evans

Emma J Crosbie

Affiliations

Soon will be listed here.

Abstract

Key Content: Lynch syndrome is an autosomal dominant condition closely associated with colorectal, endometrial and ovarian cancer.Women with Lynch syndrome are at increased risk of both endometrial and ovarian cancer and should be offered personalised counselling regarding family planning, red flag symptoms and risk-reducing strategies.Surveillance for gynaecological cancer in women with Lynch syndrome remains controversial; more robust data are needed to determine its effectiveness.Universal testing for Lynch syndrome in endometrial cancer is being adopted by centres across Europe and is now recommended by the National Institute for Health and Care Excellence; thus, gynaecologists must become familiar with testing strategies and their results.Testing strategies involve risk stratification of cancers based on phenotypical features and definitive germline testing.

Learning Objectives: To define the pathogenesis of Lynch syndrome and its associated gynaecological cancers.To understand the testing strategies for Lynch syndrome in women with gynaecological cancer.To learn how best to counsel women with Lynch syndrome regarding gynaecological cancer and risk-reducing strategies to enable informed decision-making.

Ethical Issues: Offering gynaecological surveillance despite a lack of robust evidence for its clinical effectiveness may falsely reassure women and delay risk-reducing hysterectomy.Genetic testing may yield variants of unknown significance with ill-defined clinical implications, which can lead to confusion and anxiety.Genetic testing has implications not only for the individual, but also for the whole family, so expert counselling is crucial.

Citing Articles

Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland.

Loughrey M, OConnell L, McSorley L, Martin S, Hanly A, Winter D Fam Cancer. 2024; 24(1):2.

PMID: 39546086 DOI: 10.1007/s10689-024-00427-7.

Screening Strategies to Improve Early Diagnosis in Endometrial Cancer.

Cabrera S, de la Calle I, Baulies S, Gil-Moreno A, Colas E J Clin Med. 2024; 13(18).

PMID: 39336931 PMC: 11432712. DOI: 10.3390/jcm13185445.

Successful Surveillance Using Endometrial Cytology in a Woman With Lynch Syndrome.

Murakami A, Nomura H, Sugiyama Y, Kanao H Cureus. 2024; 16(8):e66250.

PMID: 39238766 PMC: 11375435. DOI: 10.7759/cureus.66250.

Lynch Syndrome: From Multidisciplinary Management to Precision Prevention.

Dal Buono A, Puccini A, Franchellucci G, Airoldi M, Bartolini M, Bianchi P Cancers (Basel). 2024; 16(5).

PMID: 38473212 PMC: 10930657. DOI: 10.3390/cancers16050849.

Real-World Data on Institutional Implementation of Screening for Mismatch Repair Deficiency and Lynch Syndrome in Endometrial Cancer Patients.

Joder C, Gmur A, Solass W, Christe L, Rabaglio M, Fluri M Cancers (Basel). 2024; 16(3).

PMID: 38339422 PMC: 10854690. DOI: 10.3390/cancers16030671.

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