Results 61 to 70 of about 2,323 (154)

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

Clinical Genetics, Volume 109, Issue 2, Page 363-367, February 2026.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya, Yarin Hadid, Ahmad Mahamid, Debora Kidron, Naama Halpern, Adel Shalata, Zohar Levi, Yael Goldberg   +7 more
wiley   +1 more source

Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis

Diseases of the Colon & Rectum, 2017
BACKGROUND: The reported proportion of patients with familial adenomatous polyposis who have adrenal lesions varies between 7% and 13% compared with 4% in the general population; the prevalence of adrenal lesions in patients with attenuated familial adenomatous polyposis and MUTYH-associated polyposis is unknown.
Kallenberg, Frank G. J., Bastiaansen, Barbara A. J., Nio, C. Yung, Soeters, Maarten R., Boermeester, Marja A., Aalfs, Cora M., Bossuyt, Patrick M. M., Dekker, Evelien   +7 more
openaire   +3 more sources

MUTYH-associated Polyposis [PDF]

Case Medical Research, 2000
M Nielsen, F Hes
openaire   +2 more sources

Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations

BMC Medical Genetics, 2007
Background MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic MUTYH germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC).
Vasen Hans FA, Hes Frederik J, Nielsen Maartje, van den Hout Wilbert B   +3 more
doaj   +1 more source

Colorectal Adenocarcinoma: A Comprehensive Narrative Review of Molecular Pathogenesis, Metabolic Vulnerabilities, and Therapeutic Potential of Sorghum Polyphenols

Analytical Cellular Pathology, Volume 2026, Issue 1, 2026.
Colorectal cancer (CRC) remains a formidable global health challenge, characterized by uncontrolled cell proliferation and significant socioeconomic burden. Projections anticipate a substantial increase in new cases, straining healthcare systems worldwide.
Birhanemaskal Malkamu, Maria Beatrice Morelli   +1 more
wiley   +1 more source

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

The Application of Clinical Genetics, 2015
Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña, Francesc Balaguer Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas ...
Leoz ML, Carballal S, Moreira L, Ocaña T, Balaguer F   +4 more
doaj  

Genetically Confirmed MUTYH-Associated Polyposis in Ecuador: A Model Case for Oncologic Surgery

Journal of Coloproctology
MUTYH-associated polyposis (MAP) is a rare autosomal recessive syndrome caused by biallelic mutations in the MUTYH gene, responsible for about 1% of colorectal cancers (CRCs).
Daniel Vargas, Luis Muñoz-Andrade, Janeth Perez, Guido Panchana-Coello, Yanalin Mantuano   +4 more
doaj   +1 more source

Multilocus Inherited Neoplasia Alleles Syndrome in a Patient With BRCA2‐Associated Breast Cancer and MLH1‐Related Lynch Syndrome

Case Reports in Oncological Medicine, Volume 2026, Issue 1, 2026.
Multilocus inherited neoplasia alleles syndrome (MINAS) is a rare but increasingly recognized entity characterized by germline pathogenic variants in multiple cancer susceptibility genes, leading to overlapping hereditary cancer syndromes. The growing use of next‐generation sequencing (NGS) and comprehensive genetic testing has increased MINAS ...
Vaneza Avila-Rodriguez, Alejandro Ruiz-Patiño, Carlos Bonilla-Gonzalez, María Eugenia Manrique Acevedo, Patricia Lopez, Magda Jimena Vargas Diaz, Diego Rubio, María Alejandra Bravo Garzon, Sandra Franco, William Mantilla, Jose I. Mayordomo   +10 more
wiley   +1 more source

Germline variants in patients from the Iranian hereditary colorectal cancer registry

Cancer Cell International
Background and aim Hereditary cancer syndromes account for 6–10% of all colorectal cancer (CRC) cases and 20% of early-onset CRC. Identifying novel pathogenic germline variants can impact genetic testing, counseling, and surveillance. This study aimed to
Lena Goshayeshi, Saeed Hoorang, Benyamin Hoseini, Mohammad Reza Abbaszadegan, Maryam Afrazeh, Maliheh Alimardani, Fatemeh Maghool, Milad Shademan, Morteza Zahedi, Mehrdad Zeinalian, Foroogh Alborzi, Mohammad Reza Keramati, Ashkan Torshizian, Hassan Vosoghinia, Farnood Rajabzadeh, Alireza Bary, Massih Bahar, Ali Javadmanesh, Jamshid Sorouri-Khorashad, Mohammad Hassan Emami, Nasser Ebrahimi Daryani, Hans F.A. Vasen, Ladan Goshayeshi, Hesam Dehghani   +23 more
doaj   +1 more source

Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Hereditary Cancer in Clinical Practice, 2005
The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene APC.
Friedl Waltraut, Aretz Stefan
doaj   +1 more source