Tina Pesaran to Female
This is a "connection" page, showing publications Tina Pesaran has written about Female.
Connection Strength
0.666
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Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification. Nat Commun. 2026 Apr 09; 17(1).
Score: 0.032
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BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes. Am J Hum Genet. 2025 12 04; 112(12):2902-2921.
Score: 0.031
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. Am J Hum Genet. 2025 Oct 02; 112(10):2266-2280.
Score: 0.031
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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: 0.031
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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: 0.030
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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: 0.030
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. Am J Hum Genet. 2024 Nov 07; 111(11):2411-2426.
Score: 0.029
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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: 0.029
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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: 0.028
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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: 0.027
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Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data. Cold Spring Harb Mol Case Stud. 2022 01; 8(1).
Score: 0.024
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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: 0.024
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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: 0.024
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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: 0.023
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Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer. Hum Mutat. 2021 10; 42(10):1265-1278.
Score: 0.023
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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: 0.023
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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: 0.022
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Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing. Cancer Genet. 2020 10; 248-249:11-17.
Score: 0.022
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Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Hum Mutat. 2020 09; 41(9):1555-1562.
Score: 0.022
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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: 0.021
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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: 0.020
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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: 0.020
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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: 0.019
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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: 0.019
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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196.
Score: 0.018
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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016 06 01; 25(11):2256-2268.
Score: 0.016
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ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
Score: 0.016
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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: 0.014