Search Results - "MUNOZ, Jenifer"
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Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer
Published in International journal of molecular sciences (28-01-2021)“…The genetic cause for several families with gastric cancer (GC) aggregation is unclear, with marked relevance in early-onset patients. We aimed to identify new…”
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Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer
Published in Gastroenterology (New York, N.Y. 1943) (01-07-2020)“…A significant proportion of colorectal cancer (CRC) cases have familial aggregation but little is known about the genetic factors that contribute to these…”
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Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study
Published in The lancet. Gastroenterology & hepatology (01-11-2016)“…Precision cancer medicine depends on defining distinct tumour subgroups using biomarkers that may occur at very modest frequencies. One such subgroup comprises…”
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Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
Published in Genetics in medicine (01-02-2015)“…Purpose: Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC , MUTYH , and the…”
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Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer
Published in Cancer (01-05-2015)“…BACKGROUND Colorectal cancers (CRCs) that have microsatellite instability (MSI) and mutL homolog 1 (MLH1) immunoloss are observed in 3 clinical scenarios:…”
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Germline mutations in WNK2 could be associated with serrated polyposis syndrome
Published in Journal of medical genetics (01-06-2023)“…Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic…”
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Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening
Published in Cancer epidemiology, biomarkers & prevention (01-07-2022)“…Colorectal cancer has high incidence and associated mortality worldwide. Screening programs are recommended for men and women over 50. Intermediate screens…”
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The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer
Published in European journal of human genetics : EJHG (01-10-2016)“…Colorectal cancer (CRC) is one of the most common neoplasms in the world. Fanconi anemia (FA) is a very rare genetic disease causing bone marrow failure,…”
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Epigenome-Wide DNA Methylation Profiling of Normal Mucosa Reveals HLA-F Hypermethylation as a Biomarker Candidate for Serrated Polyposis Syndrome
Published in The Journal of molecular diagnostics : JMD (01-06-2022)“…Serrated polyposis syndrome (SPS) is associated with a high risk for colorectal cancer. Intense promoter hypermethylation is a frequent molecular finding in…”
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Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer
Published in International journal of cancer (15-03-2020)“…Colorectal cancer (CRC) is a complex disorder for which the majority of the underlying germline predisposition factors remain still unidentified. Here, we…”
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Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome
Published in JCI insight (17-09-2020)“…Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it is characterized by DNA mismatch repair (MMR) deficiency. The term…”
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CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions
Published in Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association (01-07-2024)“…Background CDH1 and CTNNA1 remain as the main genes for hereditary gastric cancer. However, they only explain a small fraction of gastric cancer cases with…”
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MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal Cancer
Published in Clinical cancer research (15-11-2010)“…Early-onset colorectal cancer (CRC) is suggestive of a hereditary predisposition. Lynch syndrome is the most frequent CRC hereditary cause. The MUTYH gene has…”
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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer
Published in Oncotarget (18-04-2017)“…Germline mutations in POLE and POLD1 have been shown to cause predisposition to colorectal multiple polyposis and a wide range of neoplasms, early-onset…”
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Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome
Published in Frontiers in molecular biosciences (23-01-2023)“…Serrated polyposis syndrome (SPS) is one of the most frequent polyposis syndromes characterized by an increased risk for developing colorectal cancer (CRC)…”
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Antidiabetic Sterols from Peniocereus greggii Roots
Published in ACS omega (19-04-2022)“…The roots of the cactus Peniocereus greggii, which grows in Northern Mexico and in the south of Arizona, are highly valued by the Pima to treat diabetes and…”
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Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers
Published in Cancers (12-03-2021)“…Lynch-like syndrome (LLS) is an increasingly common clinical challenge with an underlying molecular basis mostly unknown. To shed light onto it, we focused on…”
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Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome
Published in Cancers (23-02-2021)“…The serrated polyposis syndrome (SPS) is the most common and yet underdiagnosed colorectal polyposis syndrome. It is characterized by multiple and/or large…”
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Identification of MYH Mutation Carriers in Colorectal Cancer: A Multicenter, Case-Control, Population-Based Study
Published in Clinical gastroenterology and hepatology (01-03-2007)“…Background & Aims: Whereas it has conclusively been demonstrated that biallelic MutY human homolog ( MYH ) mutations confer a significant risk for colorectal…”
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