Mismatch repair deficiency in early‐onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect

Repair Deficiency ◽

Strong Indicator ◽

Hereditary Defect

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

Familial Cancer ◽

10.1007/s10689-016-9925-1 ◽

2016 ◽

Vol 16 (1) ◽

pp. 67-71 ◽

Cited By ~ 25

Author(s):

Katharina Wimmer ◽

Andreas Beilken ◽

Rainer Nustede ◽

Tim Ripperger ◽

Britta Lamottke ◽

...

Keyword(s):

Mismatch Repair ◽

Early Onset ◽

Constitutional Mismatch Repair Deficiency

Repair Deficiency ◽

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer

Clinical Genetics ◽

10.1111/cge.12518 ◽

2014 ◽

Vol 88 (5) ◽

pp. 474-478 ◽

Cited By ~ 16

Author(s):

Z. Levi ◽

R. Kariv ◽

I. Barnes-Kedar ◽

Y. Goldberg ◽

E. Half ◽

...

Keyword(s):

Mismatch Repair ◽

Early Onset ◽

Deficiency Syndrome ◽

Single Adenoma ◽

Constitutional Mismatch Repair Deficiency

Repair Deficiency ◽

Gastrointestinal Manifestation ◽

Low Frequency of Mismatch Repair Deficiency in a Large Cohort of Non-liver fluke associated Cholangiocarcinomas

Zeitschrift für Gastroenterologie ◽

10.1055/s-0037-1612782 ◽

2018 ◽

Vol 56 (01) ◽

pp. E2-E89

Author(s):

B Goeppert ◽

S Roessler ◽

M Renner ◽

S Singer ◽

A Mehrabi ◽

...

Keyword(s):

Mismatch Repair ◽

Liver Fluke ◽

Low Frequency ◽

Large Cohort ◽

Clinicopathological features in endometrial carcinoma with mismatch repair deficiency among Chinese women younger than 50 years of age

Journal of Gynecology & Neonatal Biology ◽

10.15436/2380-5595.15.002 ◽

2015 ◽

Vol 1 (1) ◽

pp. 1-5

Author(s):

Yixin Liu ◽

Keyword(s):

Endometrial Carcinoma ◽

Mismatch Repair ◽

Chinese Women ◽

Clinicopathological Features ◽

Faculty Opinions recommendation of Microsatellite instability, mismatch repair deficiency, and BRAF mutation in treatment-resistant germ cell tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1161761.623362 ◽

2009 ◽

Author(s):

James Nicholson

Keyword(s):

Germ Cell ◽

Microsatellite Instability ◽

Mismatch Repair ◽

Braf Mutation ◽

Germ Cell Tumors ◽

Treatment Resistant ◽

Faculty Opinions recommendation of Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718206849.793492961 ◽

2014 ◽

Author(s):

Randall Brand

Keyword(s):

Lynch Syndrome ◽

Mismatch Repair ◽

Somatic Mutations ◽

Faculty Opinions recommendation of Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726252096.793521510 ◽

2016 ◽

Author(s):

Elaine Mardis

Keyword(s):

Next Generation Sequencing ◽

Mismatch Repair ◽

Colorectal Cancers ◽

Mutational Load ◽

Next Generation ◽

Repair Deficiency ◽

Reliable Detection ◽

Generation Sequencing

Faculty Opinions recommendation of Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.727697784.793549624 ◽

2018 ◽

Author(s):

Jaffer Ajani

Keyword(s):

Mismatch Repair ◽

Solid Tumors ◽

Chemotherapy and mismatch repair deficiency cooperate to fuel TP53 mutagenesis and ALL relapse

Nature Cancer ◽

10.1038/s43018-021-00230-8 ◽

2021 ◽

Author(s):

Fan Yang ◽

Samuel W. Brady ◽

Chao Tang ◽

Huiying Sun ◽

Lijuan Du ◽

...

Keyword(s):

Mismatch Repair ◽

A novel indication to treat distinct types of tumors with PD-1 blockade based on mismatch-repair deficiency

Annals of Research Hospitals ◽

10.21037/arh.2018.01.01 ◽

2018 ◽

Vol 2 ◽

pp. 2-2

Author(s):

Yi Bai ◽

Haitao Zhao

Keyword(s):

Mismatch Repair ◽