Tina Pesaran to Genetic Predisposition to Disease
This is a "connection" page, showing publications Tina Pesaran has written about Genetic Predisposition to Disease.
Connection Strength
3.593
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Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53. HGG Adv. 2025 Oct 09; 6(4):100484.
Score: 0.239
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Association of gene variant type and location with breast cancer risk in the general population. Ann Oncol. 2025 Aug; 36(8):954-963.
Score: 0.235
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Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast. Clin Cancer Res. 2025 Jan 06; 31(1):130-138.
Score: 0.230
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain. Am J Hum Genet. 2024 03 07; 111(3):584-593.
Score: 0.217
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
Score: 0.209
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Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2022 03; 24(3):673-680.
Score: 0.186
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Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. J Clin Oncol. 2021 12 10; 39(35):3918-3926.
Score: 0.184
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Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 11 01; 39(31):3430-3440.
Score: 0.181
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. Am J Hum Genet. 2021 03 04; 108(3):458-468.
Score: 0.176
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Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53. Hum Mutat. 2020 03; 41(3):537-542.
Score: 0.163
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A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet Med. 2020 02; 22(2):407-415.
Score: 0.158
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p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. Cancer Genet. 2019 06; 235-236:21-27.
Score: 0.156
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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. J Med Genet. 2019 07; 56(7):453-460.
Score: 0.154
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Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. J Natl Cancer Inst. 2018 08 01; 110(8):855-862.
Score: 0.148
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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196.
Score: 0.138
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ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
Score: 0.121
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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7.
Score: 0.110
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565.
Score: 0.060
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am J Hum Genet. 2024 Sep 05; 111(9):2044-2058.
Score: 0.056
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CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. J Med Genet. 2023 11 27; 60(12):1215-1217.
Score: 0.053
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Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C. Cancer Res. 2023 08 01; 83(15):2557-2571.
Score: 0.052
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Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. J Natl Cancer Inst. 2021 10 01; 113(10):1429-1433.
Score: 0.046
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An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Hum Mutat. 2021 10; 42(10):1351-1361.
Score: 0.045
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The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort. J Natl Cancer Inst. 2020 12 14; 112(12):1231-1241.
Score: 0.043
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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. Genet Med. 2020 04; 22(4):701-708.
Score: 0.041
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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. JAMA Netw Open. 2019 10 02; 2(10):e1913900.
Score: 0.040
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Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. J Med Genet. 2020 Jan; 57(1):62-69.
Score: 0.040
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A Bayesian framework for efficient and accurate variant prediction. PLoS One. 2018; 13(9):e0203553.
Score: 0.037
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DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes. Genet Med. 2019 03; 21(3):683-693.
Score: 0.037
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Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816.
Score: 0.035