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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
[HTML][HTML] BRCA1-and BRCA2-associated hereditary breast and ovarian cancer
N Petrucelli, MB Daly, T Pal - 2022 - europepmc.org
BRCA1-and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is
characterized by an increased risk for female and male breast cancer, ovarian cancer …
characterized by an increased risk for female and male breast cancer, ovarian cancer …
Accurate classification of BRCA1 variants with saturation genome editing
Variants of uncertain significance fundamentally limit the clinical utility of genetic information.
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer
Purpose Recent advances in DNA sequencing have led to the development of breast cancer
susceptibility gene panels for germline genetic testing of patients. We assessed the …
susceptibility gene panels for germline genetic testing of patients. We assessed the …
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance
for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly …
for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly …
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
The clinical classification of hereditary sequence variants identified in disease-related genes
directly affects clinical management of patients and their relatives. The International Society …
directly affects clinical management of patients and their relatives. The International Society …
Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention
The cloning of the breast cancer susceptibility genes BRCA1 and BRCA2 nearly two
decades ago helped set in motion an avalanche of research exploring how genomic …
decades ago helped set in motion an avalanche of research exploring how genomic …
Identifying breast cancer susceptibility genes–a review of the genetic background in familial breast cancer
C Wendt, S Margolin - Acta Oncologica, 2019 - Taylor & Francis
Introduction: Heritage is the most important risk factor for breast cancer. About 15–20% of
breast cancer is familial, referring to affected women who have one or more first-or second …
breast cancer is familial, referring to affected women who have one or more first-or second …
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately
connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi …
connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi …
[HTML][HTML] Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
The lack of functional evidence for the majority of missense variants limits their clinical
interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch …
interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch …