Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.L369delFs
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MUTYH

NM_001048174.2:p.L369delFs

Associated Papers

Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.

Dos Santos Luciano MC et al.

Clinical Genetics, 2025

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.

Solano AR et al.

Cancers, 2021

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR

French experts report on MUTYH-associated polyposis (MAP).

Buecher B et al.

Familial Cancer, 2012

The first mutations in the MYH gene reported in Moroccan colon cancer patients.

Laarabi FZ et al.

Gene, 2012

Base excision repair and the role of MUTYH.

Kairupan C et al.

Hereditary Cancer in Clinical Practice, 2007

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

Nielsen M et al.

Clinical Genetics, 2007

[Clinical features and current progress of familial adenomatous polyposis].

Ushio K

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."