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265 results

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Page 1
Frequent Detection of KRAS-G12C and PIK3CA-Q546K Mutations in MAP Tumors Highlights their Role in MUTYH Variants of Uncertain Significance Reclassification.
Medeiros ABD, Kozak VN, Picanço-Albuquerque CG, Neto FGKV, Dos Santos GO, Junior SA, Casali-da-Rocha JC, Carraro DM, Torrezan GT. Medeiros ABD, et al. Hum Mutat. 2026 May 18;2026:6589780. doi: 10.1155/humu/6589780. eCollection 2026. Hum Mutat. 2026. PMID: 42164324 Free PMC article.
Biallelic pathogenic variants in MUTYH cause MUTYH-associated polyposis (MAP), a rare recessive colorectal cancer (CRC) predisposition syndrome characterized by somatic G:C > T:A transversions. ...
Biallelic pathogenic variants in MUTYH cause MUTYH-associated polyposis (MAP), a rare recessive colorectal cancer (CRC) …
Rectifying referrals: genetics testing is underutilized in rectal cancer patient care.
Yu IS, Dao D, Ogola GO, Waddimba AC, Gaidarski AA 3rd, Fleshman JW Jr, Lichliter WE, Wells KO. Yu IS, et al. Proc (Bayl Univ Med Cent). 2026 Jan 16;39(3):369-374. doi: 10.1080/08998280.2026.2616123. eCollection 2026. Proc (Bayl Univ Med Cent). 2026. PMID: 42148023 Free PMC article.
One patient was diagnosed with LS, two with MUTYH-associated polyposis, and one with BRCA2. CONCLUSION: This study demonstrates poor facility-level adherence with MSI/MMR testing recommendations and poor patient-level compliance with genetic referrals in rect …
One patient was diagnosed with LS, two with MUTYH-associated polyposis, and one with BRCA2. CONCLUSION: This study demo …
Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report.
Costanzi A, Tapia Gomez H, Schievano G, Chiarelli M, Olmetti S, Scaini A, Bernasconi D, Bonfanti G, Canfora I, Bicelli N, Carissimi F, Fazzini N, Bonfanti G, Sassun R. Costanzi A, et al. Ann Ital Chir. 2026 Apr 10;97(4):625-630. doi: 10.62713/aic.4277. Ann Ital Chir. 2026. PMID: 41987631
AIM: Colorectal adenocarcinoma in young adults should prompt evaluation for hereditary syndromes such as familial adenomatous polyposis (FAP), attenuated FAP, MUTYH-associated polyposis (MAP) and other inherited cancer predisposition syndromes. ...
AIM: Colorectal adenocarcinoma in young adults should prompt evaluation for hereditary syndromes such as familial adenomatous polyposis (FAP …
First report of synchronous papillary, medullary, and thymic carcinomas in a patient carrying a germline heterozygous MUTYH mutation.
Yu L, Song N, Ming J, Wang Y, Asioli S, Guo Z, Ge M. Yu L, et al. Virchows Arch. 2026 Apr 14. doi: 10.1007/s00428-026-04512-3. Online ahead of print. Virchows Arch. 2026. PMID: 41974931
MUTYH-associated polyposis (MAP) is an autosomal recessive tumor syndrome caused by biallelic mutations in the MUTYH gene, primarily associated with an increased risk of colorectal adenomas and carcinoma. ...
MUTYH-associated polyposis (MAP) is an autosomal recessive tumor syndrome caused by biallelic mutations in the MUTYH ge …
An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed.
Fanale D, Magrin L, Corsini LR, Pedone E, Brando C, Bazan Russo TD, Ferraro P, Carobene K, Cipolla EA, Colletta G, Puglisi M, Galvano A, Vieni S, Pantuso G, Giannone AG, Badalamenti G, Incorvaia L, Russo A, Bazan V. Fanale D, et al. Ther Adv Med Oncol. 2026 Mar 19;18:17588359261425078. doi: 10.1177/17588359261425078. eCollection 2026. Ther Adv Med Oncol. 2026. PMID: 41883871 Free PMC article. Review.
Lynch syndrome is the main inherited disorder predisposing to EC, followed by other hereditary conditions, including Cowden syndrome, polymerase proof-reading associated polyposis, NTHL1-associated syndrome, hereditary breast and ovarian cancer syndrome, MUTYH-associate …
Lynch syndrome is the main inherited disorder predisposing to EC, followed by other hereditary conditions, including Cowden syndrome, polyme …
MUTYH cancer-associated variants within the interdomain connector differentially impact glycosylase activity and cellular DNA repair.
Khuu C, Malek M, Conlon SG, Wadey GP, Trasviña-Arenas CH, David SS. Khuu C, et al. bioRxiv [Preprint]. 2026 Mar 4:2026.03.03.709415. doi: 10.64898/2026.03.03.709415. bioRxiv. 2026. PMID: 41867707 Free PMC article. Preprint.
Inherited biallelic mutations in MUTYH are correlated with the cancer pre-disposition syndrome MUTYH -associated polyposis (MAP) and contribute to an increased lifetime risk of colorectal cancer. ...
Inherited biallelic mutations in MUTYH are correlated with the cancer pre-disposition syndrome MUTYH -associated polyposis …
KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.
Medeiros ABD, Dos Santos GO, Casali-da-Rocha JC, Junior SA, Souza E Silva V, Berardinelli GN, Antoniazzi AP, Reis RM, Carraro DM, Torrezan GT. Medeiros ABD, et al. Int J Cancer. 2026 Mar 15;158(6):1588-1598. doi: 10.1002/ijc.70281. Epub 2025 Dec 5. Int J Cancer. 2026. PMID: 41347765 Free PMC article.
MUTYH-associated polyposis (MAP) is an underdiagnosed recessive syndrome that predisposes individuals to colorectal cancer (CRC) and exhibits phenotypic variability. ...
MUTYH-associated polyposis (MAP) is an underdiagnosed recessive syndrome that predisposes individuals to colorectal can …
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Grot N, Kazimierczyk M, Szuman M, Kaczmarek-Ryś M, Kryszczyńska A, Dziechciowska I, Knaur M, Hnatyszyn A, Hryhorowicz S, Pławski A. Grot N, et al. Hered Cancer Clin Pract. 2025 Nov 7;23(1):25. doi: 10.1186/s13053-025-00318-7. Hered Cancer Clin Pract. 2025. PMID: 41204315 Free PMC article. Review.
Multiple polyposis syndromes include Familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), Juvenile polyposis syndrome (JPS), PTEN hamartoma tumor syndrome (PHTS), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP), Polymerase pr …
Multiple polyposis syndromes include Familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), Juvenile polyposis syndrome (JPS), …
Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review.
Sarmadi A, Javanmard SH, Zeinalian M, Hosseinzadeh M, Tabatabaiefar MA. Sarmadi A, et al. BMC Med Genomics. 2025 Oct 1;18(1):146. doi: 10.1186/s12920-025-02213-5. BMC Med Genomics. 2025. PMID: 41035082 Free PMC article. Review.
However, this variant was previously reported as the cause of MutYH-associated polyposis (MAP) in homozygous status. The review of literature showed that the frequency of MUTYH mutation in BC patients population is in a range of 0.3-5.6%. ...
However, this variant was previously reported as the cause of MutYH-associated polyposis (MAP) in homozygous status. Th …
Genomic characterization of patients with colorectal cancer.
Mahdouani M, Zhuri D, Dusenkalkan F, Gurkan H, Yalcintepe S. Mahdouani M, et al. Hered Cancer Clin Pract. 2025 Sep 26;23(1):21. doi: 10.1186/s13053-025-00322-x. Hered Cancer Clin Pract. 2025. PMID: 41013697 Free PMC article.
Lynch syndrome (LS), Familial Adenomatous Polyposis (FAP), and MUTYH-associated polyposis (MAP) are well-characterized hereditary syndromes known to contribute to colorectal cancer predisposition. ...
Lynch syndrome (LS), Familial Adenomatous Polyposis (FAP), and MUTYH-associated polyposis (MAP) are well-characterized …
265 results