scholarly journals MUTYH ‐associated polyposis – colorectal phenotype and management

2020 ◽  
Vol 22 (10) ◽  
pp. 1271-1278
Author(s):  
R. Patel ◽  
P. McGinty ◽  
V. Cuthill ◽  
M. Hawkins ◽  
M. Moorghen ◽  
...  
Keyword(s):  
Mutyh Associated Polyposis

Are there monogenic hereditary forms of bladder cancer or only genetic susceptibilities?

2021 ◽  
Author(s):  
Tarek Souaid ◽  
Joya-Rita Hindy ◽  
Ernest Diab ◽  
Hampig Raphael Kourie
Keyword(s):  
Bladder Cancer ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Significance Level ◽  
Dna Mismatch ◽  
Common Cancer ◽  
Genome Wide ◽  
Dna Mismatch Repair Genes ◽  
Mutyh Associated Polyposis

Bladder cancer (BC) is the most common cancer involving the urinary system and the ninth most common cancer worldwide. Tobacco smoking is the most important environmental risk factor of BC. Several single nucleotide polymorphisms have been validated by genome-wide association studies as genetic risk factors for BC. However, the identification of DNA mismatch-repair genes, including MSH2 in Lynch syndrome and MUTYH in MUTYH-associated polyposis, raises the possibility of monogenic hereditary forms of BC. Moreover, other genetic mutations may play a key role in familial and hereditary transmissions of BC. Therefore, the aim of this review is to focus on the major hereditary syndromes involved in the development of BC and to report BC genetic susceptibilities established with genome-wide significance level.

MUTYH-associated polyposis

2009 ◽  
Vol 23 (2) ◽  
pp. 209-218 ◽  
Author(s):  
Julian R. Sampson ◽  
Natalie Jones
Keyword(s):  
Mutyh Associated Polyposis

MUTYH-Associated Polyposis

2016 ◽  
pp. 25-32
Author(s):  
Maureen E. Mork ◽  
Eduardo Vilar
Keyword(s):  
Mutyh Associated Polyposis

Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum

2021 ◽  
pp. 104385
Author(s):  
V.I.L.L.Y. Marie-Charlotte ◽  
Julien Masliah-Planchon ◽  
Bruno Buecher ◽  
Clément Beaulaton ◽  
Anne Vincent-Salomon ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Mutyh Associated Polyposis

scholarly journals Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP)

2020 ◽  
Vol 19 (2) ◽  
pp. 183-187
Author(s):  
Ceranza G. Daans ◽  
Zeinab Ghorbanoghli ◽  
Mary E. Velthuizen ◽  
Hans F. A. Vasen ◽  
George J. A. Offerhaus ◽  
...  
Keyword(s):  
Barrett’S Esophagus ◽  
Barrett's Esophagus ◽  
Mutyh Associated Polyposis

High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis

2012 ◽  
Vol 11 (3) ◽  
pp. 503-508 ◽  
Author(s):  
Rania Abdelmaksoud-Dammak ◽  
Imen Miladi-Abdennadher ◽  
Ali Amouri ◽  
Nabil Tahri ◽  
Lobna Ayadi ◽  
...  
Keyword(s):  
High Prevalence ◽  
Mutyh Associated Polyposis

scholarly journals Practical management of polyposis syndromes

2019 ◽  
Vol 10 (4) ◽  
pp. 379-387 ◽  
Author(s):  
Roshani Patel ◽  
Warren Hyer
Keyword(s):  
At Risk ◽  
Endoscopic Therapy ◽  
Polyposis Syndrome ◽  
Causative Gene ◽  
Record Keeping ◽  
Diagnosis And Management ◽  
Risk Patients ◽  
Polyposis Syndromes ◽  
Peutz Jeghers Syndrome ◽  
Mutyh Associated Polyposis

Hereditary bowel tumours are usually part of a distinct syndrome which require management of both intestinal and extra-intestinal disease. Polyposis syndromes include: Familial adenomatous polyposis, MUTYH-associated polyposis, Serrated polyposis syndrome, Peutz-Jeghers syndrome, Juvenile polyposis syndrome and PTEN-hamartomatous syndromes. Of all colorectal cancers (CRC), 5%–10% will be due to an underlying hereditary CRC syndrome. Diagnosis and management of polyposis syndromes is constantly evolving as new scientific and technological advancements are made with respect to identifying causative genes and increased sophistication of endoscopic therapy to treat polyps. This, in addition to data yielded from meticulous record-keeping by polyposis registries has helped to guide management in what are otherwise relatively rare conditions. These data help guide clinical management of patients and their ‘at-risk’ relatives. Diagnosis is both genetic where possible but clinical recognition is key in the absence of an identifiable causative gene. Furthermore, some syndromes can overlap which can additionally complicate diagnosis. The principle goals of polyposis management are first to manage and treat the presenting patient and then to identify ‘at-risk’ patients, through screening and predictive genetic testing, endoscopic surveillance to allow therapy and guide surgical prophylaxis. Due to the complexity of diagnosis and management, patients and their families should be referred to a genetics centre or a polyposis registry where dedicated management can take place.

c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis

2020 ◽  
Vol 240 ◽  
pp. 45-53
Author(s):  
Ameni Kdissa ◽  
Klaus Brusgaard ◽  
Mahdi Ksiaa ◽  
Lamia Golli ◽  
Olfa Hallara ◽  
...  
Keyword(s):  
Tunisian Patients ◽  
Frequent Variant ◽  
Mutyh Associated Polyposis
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