Results 31 to 40 of about 3,222,626 (259)

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data

open access: yesnpj Genomic Medicine, 2022
Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness of repurposing large-scale next-generation sequencing data for pharmacogenetics has been demonstrated, supporting the implementation of preemptive ...
Javier Lanillos   +4 more
doaj   +1 more source

Comparison of Clinicopathological Characteristics Between Primary and Contralateral Cancers in BRCA1/2 Carriers with Metachronous Bilateral Breast Cancers

open access: yesZhongliu Fangzhi Yanjiu, 2023
Objective To compare the clinicopathological characteristics between primary and contralateral cancers in patients with metachronous bilateral breast cancer (MBBC) who carried a BRCA1/2 germline pathogenic variant. Methods A total of 496 BRCA1/2 carriers
DING Xinyun   +6 more
doaj   +1 more source

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study [PDF]

open access: yes, 2004
We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses.
Monaco, AP   +12 more
core   +1 more source

Serum selenium level and cancer risk: a nested case-control study

open access: yesHereditary Cancer in Clinical Practice, 2019
Background Epidemiologic studies have demonstrated a relationship between selenium status and cancer risk among those with low selenium levels. It is of interest to prospectively evaluate the relationship between selenium and cancer among women who ...
Steven A. Narod   +15 more
doaj   +1 more source

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

open access: yesScientific Reports, 2021
Case–control studies have shown an association of BARD1 with hereditary breast and/or ovarian cancer (HBOC) predisposition. BARD1 alternatively spliced isoforms are abundant and some are highly expressed in different cancer types.
Paula Rofes   +10 more
doaj   +1 more source

Identification of novel genetic and prognostic markers in hereditary and sporadic cancer: "two sides of the same coin" [PDF]

open access: yes, 2012
This thesis has focused on the discovery and characterization of novel diagnostic and prognostic markers in various cancer entities, with a special emphasis on colorectal cancer (CRC).
Piscuoglio, Salvatore
core   +1 more source

Cancer risk in relatives of BRCA1/2 pathogenic variant carriers in a large series of unselected patients with breast cancer

open access: yesCancer Biology & Medicine, 2023
Objective: The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established. Methods: A family history of cancer in 9903 unselected breast cancer patients was retrospectively analyzed.
Jiaming Liu   +7 more
doaj   +1 more source

Pilot Study on Low Penetrance Breast and Colorectal Cancer Predisposition Markers in Latvia [PDF]

open access: yes, 2006
Introduction It has not been established whether CHEK2 and NOD2 variants are present in Latvia and whether inherited variation in these genes influences cancer risk in this population.
Arvids Irmejs   +26 more
core   +1 more source

2010 international consensus algorithm for the diagnosis, therapy and management of hereditary angioedema [PDF]

open access: yes, 2010
Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art ...
S. Waserman   +251 more
core   +1 more source

Clinical, Molecular and Geographical Features of Hereditary Breast/Ovarian Cancer in Latvia [PDF]

open access: yes, 2005
Introduction The aim of the study is to evaluate the incidence and phenotype-genotype characteristics of hereditary breast and ovarian cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives ...
Gardovskis Janis   +21 more
core   +1 more source

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