Tina Pesaran to Germ-Line Mutation
This is a "connection" page, showing publications Tina Pesaran has written about Germ-Line Mutation.
Connection Strength
2.242
-
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: 0.244
-
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: 0.233
-
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: 0.228
-
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: 0.186
-
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 11 01; 39(31):3430-3440.
Score: 0.183
-
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: 0.175
-
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: 0.172
-
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: 0.169
-
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: 0.061
-
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. J Med Genet. 2023 11 27; 60(12):1215-1217.
Score: 0.054
-
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 02; 26(2):100992.
Score: 0.053
-
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. J Med Genet. 2023 06; 60(6):568-575.
Score: 0.050
-
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med. 2022 01; 24(1):41-50.
Score: 0.047
-
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2022 03; 24(3):673-680.
Score: 0.047
-
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: 0.046
-
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: 0.040
-
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. J Med Genet. 2020 Jan; 57(1):62-69.
Score: 0.040
-
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. Cancer Genet. 2019 06; 235-236:21-27.
Score: 0.039
-
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: 0.039
-
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
-
Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816.
Score: 0.036
-
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196.
Score: 0.035
-
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: 0.028