Associated Papers
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Molecular Profiling of Sinonasal Adenoid Cystic Carcinoma: Canonical and Noncanonical Gene Fusions and Mutation.
Skálová A et al.
The American Journal of Surgical Pathology, 2025
PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients.
Kang MC et al.
Esmo Open, 2025
Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
Richters L et al.
Jama Network Open, 2025
Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia.
Mesarič VA et al.
Human Genomics, 2024
Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.
Rocca V et al.
Current Issues in Molecular Biology, 2024
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.
Park JE et al.
Cancers, 2024
Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.
Li J et al.
Journal of Cancer Research and Clinical Oncology, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.
Keske A et al.
Breast Cancer Research and Treatment, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
Kałużewski T et al.
International Journal of Molecular Sciences, 2023
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Zhang C et al.
Journal of Medical Genetics, 2023
Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
Nurmi AK et al.
Cancers, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Relationship between Telomere Length, TERT Genetic Variability and TERT, TP53, SP1, MYC Gene Co-Expression in the Clinicopathological Profile of Breast Cancer.
Dratwa M et al.
International Journal of Molecular Sciences, 2022
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Emelyanova M et al.
Therapeutic Advances in Medical Oncology, 2022
Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
Doraczynska-Kowalik A et al.
Frontiers in Genetics, 2022
Germline mutations in a DNA repair pathway are associated with familial colorectal cancer.
Xu P et al.
Jci Insight, 2021
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Ren M et al.
Breast Cancer Research and Treatment, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.
Zanti M et al.
Cancers, 2020
Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
Riedlova P et al.
Molecular Biology Reports, 2020
Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
Wu Y et al.
Breast Cancer Research and Treatment, 2020
Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms.
Skaro M et al.
Gastroenterology, 2019
Genomic characterization of metastatic breast cancers.
Bertucci F et al.
Nature, 2019
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
Myszka A et al.
Familial Cancer, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
Nguyen-Dumont T et al.
Breast Cancer Research and Treatment, 2015
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L et al.
European Journal of Human Genetics : Ejhg, 2014
Breast-cancer risk in families with mutations in PALB2.
Antoniou AC et al.
The New England Journal of Medicine, 2014
[Effectiveness of platinum-based chemotherapy in ovarian cancer patients with BRCA1/2 mutations].
Gorodnova TV et al.
Voprosy Onkologii, 2014
[Candidate genes for the familial forms of breast and ovarian carcinomas (BRCA)].
Markov A
Molekuliarna Meditsina = Molecular Medicine, 1996