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
3.526
-
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53. HGG Adv. 2025 Oct 09; 6(4):100484.
Score: 0.227
-
Association of gene variant type and location with breast cancer risk in the general population. Ann Oncol. 2025 Aug; 36(8):954-963.
Score: 0.223
-
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: 0.219
-
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: 0.206
-
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
Score: 0.198
-
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2022 03; 24(3):673-680.
Score: 0.176
-
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: 0.175
-
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 11 01; 39(31):3430-3440.
Score: 0.172
-
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: 0.167
-
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: 0.155
-
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: 0.150
-
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. Cancer Genet. 2019 06; 235-236:21-27.
Score: 0.148
-
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: 0.146
-
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: 0.140
-
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196.
Score: 0.131
-
ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
Score: 0.115
-
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: 0.104
-
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: 0.058
-
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome. Genome Med. 2025 10 22; 17(1):128.
Score: 0.058
-
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: 0.057
-
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: 0.053
-
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. J Med Genet. 2023 11 27; 60(12):1215-1217.
Score: 0.051
-
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: 0.049
-
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: 0.044
-
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: 0.043
-
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: 0.041
-
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: 0.039
-
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. JAMA Netw Open. 2019 10 02; 2(10):e1913900.
Score: 0.038
-
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. J Med Genet. 2020 Jan; 57(1):62-69.
Score: 0.038
-
A Bayesian framework for efficient and accurate variant prediction. PLoS One. 2018; 13(9):e0203553.
Score: 0.035
-
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: 0.035
-
Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816.
Score: 0.033