Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.I1307K
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APC

NM_000038.6:p.I1307K

Associated Papers

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.

Paksoy B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.

Cammarota F et al.

Biomedicines, 2026

Long-Term, Prospective Assessment of Cancer Risk in APC c.3920T>A (I1307K) Carriers: Evidence From a Cohort of Over 21,000 Healthy Individuals.

Hoffman Y et al.

Gastroenterology, 2026

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Paiella S et al.

United European Gastroenterology Journal, 2026

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Pal T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

Germline APC I1307K and MITF E318K variants in a patient with high-grade serous ovarian carcinoma: A case report.

Covey SC et al.

Cancer Genetics, 2026

Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.

Rodriguez-Hernandez A et al.

Journal of the National Cancer Institute, 2026

Pathogenic germline variants among patients with ovarian cancer by self-reported ancestry: A commercial laboratory collaborative research registry study.

Aryasomayajula C et al.

Gynecologic Oncology, 2026

Age-Related Germline Landscape of Endometrial Cancer: Focus on Early-Onset Cases.

Wang JJ et al.

Jco Precision Oncology, 2026

Editorial: Molecular and functional profiling in breast cancer: implications for hereditary and sporadic cases.

Virga A et al.

Frontiers in Oncology, 2026

The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.

Moncado S et al.

Genes, 2025

Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.

Oh E et al.

Clinical Genitourinary Cancer, 2025

Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

Hodrob T et al.

Journal of Genetic Counseling, 2025

APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites.

Allen S et al.

Journal of Medical Genetics, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM10_ESM.xlsx › HGG-H3-WT-TP53

In Our Scope of Practice: Genetic Risk Assessment and Testing for Gastrointestinal Cancers and Polyposis in Gastroenterology.

Monahan K et al.

Gastroenterology, 2025

Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.

Neumann C et al.

Jco Precision Oncology, 2025

Prospective characterization of germline variants in patients with gliomas and glioneuronal tumors.

Nandakumar S et al.

Acta Neuropathologica, 2025

Comparative insight: hereditary colorectal cancer registries in Iran, Singapore, and South Africa.

Goshayeshi L et al.

Familial Cancer, 2025

Contribution of Germline Predisposition to Pediatric Thyroid Cancer.

Harrison C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.

Grech L et al.

Molecular Genetics & Genomic Medicine, 2025

Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.

Nahom D et al.

Familial Cancer, 2025

Detecting likely germline variants during tumor-based molecular profiling.

Jaber D et al.

The Journal of Clinical Investigation, 2025

Genetic predisposition to polyposis syndromes.

García-Simón N et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Malhotra A et al.

Hgg Advances, 2025

40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses

Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system.

Lucas Beckett IA et al.

Npj Genomic Medicine, 2025

Pancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.

Tacelli M et al.

Seminars in Cancer Biology, 2025

Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.

Perletti G et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype.

Dardenne A et al.

European Journal of Human Genetics : Ejhg, 2025

Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.

Saoud C et al.

Npj Precision Oncology, 2025

Exploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population.

Akcan MB et al.

Annals of Human Genetics, 2025

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Marabelli M et al.

Cancers, 2025

A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.

Shur S et al.

Familial Cancer, 2025

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL
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