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Richard Gallon

Explore the profile of Richard Gallon including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 24
Citations 358
Followers 0
Related Specialties
Oncology
Genetics
Gastroenterology
Top 10 Co-Authors
John Burn
Mauro Santibanez-Koref
Michael S Jackson
Christine Hayes
Katharina Wimmer
Gillian M Borthwick
Matthias Kloor
Rachel Phelps
Johannes Zschocke
Aysel Ahadova
Published In
Int J Cancer
Hum Mutat
Cancers (Basel)
Gastroenterology
Front Oncol
Affiliations
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Recent Articles
1.
A novel microsatellite instability test of sebaceous tumours to facilitate low cost universal screening for Lynch syndrome
Gallon R, Holt G, Alfailakawi W, Husain A, Jones C, Sowter P, et al.
Clin Exp Dermatol . 2025 Jan; PMID: 39847610
Background: One in five sebaceous tumour (ST) patients may have Lynch syndrome (LS), a hereditary cancer predisposition. LS patients benefit from cancer surveillance and prevention programmes and immunotherapy. Whilst universal...
2.
Detection of Mismatch Repair Deficiency in Endometrial Cancer: Assessment of IHC, Fragment Length Analysis, and Amplicon Sequencing Based MSI Testing
Sowter P, Gallon R, Hayes C, Phelps R, Borthwick G, Prior S, et al.
Cancers (Basel) . 2024 Dec; 16(23). PMID: 39682157
Mismatch repair (MMR) deficiency can be indicative of Lynch syndrome (LS) and guide treatment with immune checkpoint inhibitors. Colorectal cancers (CRCs) and endometrial cancers (ECs) are routinely screened to identify...
3.
ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management
Colas C, Guerrini-Rousseau L, Suerink M, Gallon R, Kratz C, Ayuso E, et al.
Eur J Hum Genet . 2024 Oct; 32(12):1526-1541. PMID: 39420201
Constitutional mismatch repair deficiency (CMMRD), first described 25 years ago, confers an extremely high and lifelong cancer risk, including haematologic, brain, and gastrointestinal tract malignancies, and is associated with several...
4.
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (CCMMRD), Paris, France, November 16th 2022
Guerrini-Rousseau L, Gallon R, Pineda M, Brugieres L, Baert-Desurmont S, Corsini C, et al.
Fam Cancer . 2024 Jul; 23(4):447-457. PMID: 39031223
Biallelic germline pathogenic variants in one of the four mismatch repair genes (MSH2, MSH6, MLH1 and PMS2) cause a very rare, highly penetrant, childhood-onset cancer syndrome, called constitutional mismatch repair...
5.
A novel colorectal cancer test combining microsatellite instability and analysis: Clinical validation and impact on Lynch syndrome screening
Gallon R, Herrero-Belmonte P, Phelps R, Hayes C, Sollars E, Egan D, et al.
BJC Rep . 2024 Jul; 2(1):48. PMID: 38962168
Background: Lynch syndrome (LS) is under-diagnosed. UK National Institute for Health and Care Excellence guidelines recommend multistep molecular testing of all colorectal cancers (CRCs) to screen for LS. However, the...
6.
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants
Gallon R, Brekelmans C, Martin M, Bours V, Schamschula E, Amberger A, et al.
NPJ Precis Oncol . 2024 May; 8(1):119. PMID: 38789506
Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct cancer syndromes caused, respectively, by mono- and bi-allelic germline mismatch repair (MMR) variants. LS predisposes to mainly gastrointestinal and...
7.
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous missense variant (c.1918C>A, p.(Pro640Thr)): a case report
Akrout F, Achour A, Tops C, Gallon R, Meddeb R, Achoura S, et al.
Front Oncol . 2023 Sep; 13:1195814. PMID: 37664053
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high...
8.
Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors
Rasmussen M, Sowter P, Gallon R, Durhuus J, Hayes C, Andersen O, et al.
Front Oncol . 2023 May; 13:1147591. PMID: 37143941
Introduction: Lynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, , , or . Somatic second hits in tumors cause MMR deficiency,...
9.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, et al.
Gastroenterology . 2022 Dec; 164(4):579-592.e8. PMID: 36586540
Background & Aims: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic...
10.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis
Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H, Schnaiter S, et al.
Biomolecules . 2022 Oct; 12(10). PMID: 36291559
Colorectal cancer (CRC) in adolescents and young adults (AYA) is very rare. Known predisposition syndromes include Lynch syndrome (LS) due to highly penetrant MLH1 and MSH2 alleles, familial adenomatous polyposis...