Orphanet: Lynch syndrome

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Lynch syndrome

Disease definition

A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people. Factors influencing individual tumor risk include sex, age, affected gene, and personal history of cancer.

ORPHA:144

Classification level: Disorder

Synonym(s): -
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Adult
ICD-10: D48.9
OMIM: 120435 609310 613244 614331 614337 614350 614385
UMLS: -
MeSH: D003123
GARD: 9905
MedDRA: 10051981

Detailed information

Guidelines

Clinical practice guidelines
Français (2012) - ALD
Deutsch (2013) - AWMF
English (2021) - Br J Surg

Disease review articles

Clinical genetics review
English (2021) - GeneReviews

Diagnostic criteria
English (2004, pdf) - Orphanet

Genetic Testing

Guidance for genetic testing
English (2010) - Eur J Hum Genet

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

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Lynch syndrome

ORPHA:144

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Italiano (2004)

Guidelines

Disease review articles

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services