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Alcohol and colorectal cancer risk, subclassified by mutational signatures of DNA mismatch repair deficiency. [PDF]

J Natl Cancer Inst
Fang A, Ugai T, Gurjao C, Zhong R, Liu Z, Zhang X, Wang P, Nowak J, Wang M, Giannakis M, Ogino S, Zhang X, Giovannucci E.   +12 more
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Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

European Journal of Cancer, 2014
Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited.We established an international CMMRD consortium and collected comprehensive clinical and genetic data.
Aaron Pollett, David Malkin, Shay Ben-Shachar   +2 more
exaly   +3 more sources

Mismatch repair deficiency in canine neoplasms

Veterinary Pathology, 2021
The DNA mismatch repair (MMR) system preserves genomic stability by identifying and repairing mismatched nucleotides in the DNA replication process. The dysfunction of the MMR system, also known as mismatch repair deficiency (dMMR), is implicated as a predictive biomarker for the efficacy of immune checkpoint blockade therapy regardless of the tumor ...
Sakuya Inanaga, Masaya Igase, Yusuke Sakai, Mika Tanabe, Nozomi Shimonohara, Kazuhito Itamoto, Munekazu Nakaichi, Takuya Mizuno   +7 more
openaire   +2 more sources

Constitutive deficiency in DNA mismatch repair

Clinical Genetics, 2007
Mutations in the DNA mismatch repair (MMR) genes are associated with the inheritance of hereditary non‐polyposis colorectal cancer, also known as Lynch syndrome, a cancer syndrome with an average age at onset of 44. Individuals presenting with colorectal cancer are diagnosed with Lynch I, whereas individuals who present with extra‐colonic tumors (such ...
K E A, Felton, D M, Gilchrist, S E, Andrew   +2 more
openaire   +2 more sources

Mismatch repair deficiency in cholangiocarcinoma.

Journal of Clinical Oncology, 2018
269 Background: Cholangiocarcinoma (CC) is a fatal malignancy with an unmet treatment need. With the approval of immunotherapy for solid tumors with mismatch repair (MMR) deficiency, there is a renewed interest in MMR testing. Little is known about the incidence of MMR deficiency in CC or its correlation to survival, immune cell infiltration, PD-L1 ...
Paul Raymond Kunk, Joseph Mounir Obeid, Kevin Winters, Patcharin Pramoonjago, Dirk G. Brockstedt, Anita Giobbie-Hurder, Edward B Stelow, Todd W. Bauer, Craig L. Slingluff, Osama E. Rahma   +9 more
openaire   +1 more source

Mismatch repair deficiency testing in clinical practice

Expert Review of Molecular Diagnostics, 2016
Lynch syndrome, an autosomal dominant inherited disorder, is caused by inactivating mutations involving DNA mismatch repair (MMR) genes. This leads to profound genetic instability, including microsatellite instability (MSI) and increased risk for cancer development, particularly colon and endometrial malignancies.
Natalia, Buza, James, Ziai, Pei, Hui
openaire   +2 more sources

Constitutional Mismatch Repair Deficiency

2018
Inherited heterozygous mutations in the MMR genes result in Lynch syndrome (LS). Individuals with biallelic mutation of one of the MMR genes developed malignancies in childhood. This recessively inherited condition is named CMMRD for constitutional mismatch repair deficiency. The spectrum of tumours is distinct from LS.
Chrystelle Colas, Laurence Brugières, Katharina Wimmer   +2 more
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Mismatch Repair Deficiency in Ovarian Carcinoma

American Journal of Surgical Pathology, 2020
Mismatch repair deficiency (MMRD) is involved in the initiation of both hereditary and sporadic tumors. MMRD has been extensively studied in colorectal cancer and endometrial cancer, but not so in other tumors, such as ovarian carcinoma. We have determined the expression of mismatch repair proteins in a large cohort of 502 early-stage epithelial ...
Susanna, Leskela, Ignacio, Romero, Eva, Cristobal, Belén, Pérez-Mies, Juan M, Rosa-Rosa, Ana, Gutierrez-Pecharroman, Tamara, Caniego-Casas, Almudena, Santón, Belén, Ojeda, Raquel, López-Reig, María L, Palacios-Berraquero, Ángel, García, Javier, Ibarra, Sofía, Hakim, Rosa, Guarch, José A, López-Guerrero, Andrés, Poveda, José, Palacios   +17 more
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