Familial Cancer - 2021

63 articles | Last updated: 2025-12-03 14:12:56

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Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom Syndrome
Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant
Hereditary medullary thyroid carcinoma syndromes: experience from western India
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations
Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening
Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant							✓		Ashkenazi Jewish
Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome
Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome
Eighth International Symposium on hereditary breast and ovarian cancer
Unusual phenotypes in patients with a pathogenic germline variant in DICER1
Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven
First international workshop of the ATM and cancer risk group (4-5 December 2019)
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies
Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies
A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel
Pilot study of an online training program to increase genetic literacy and communication skills in oncology healthcare professionals discussing BRCA1/2 genetic testing with breast and ovarian cancer p
The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review
In memoriam Professor Thierry Frébourg
CDH1 pathogenic variants and cancer risk in an unselected patient population
Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)
“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants
A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer
Malignancy risk in individuals with familial adenomatous polyposis receiving biologics and immunomodulators
Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma
Correction to: Letter to the Editor—Recent advances in Lynch syndrome
Correction to: Letter to the Editor—Recent advances in Lynch syndrome: response to Møller et al.
Extended gene panel testing in lobular breast cancer
A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population
Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer
Correction to: Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer
Age of diagnosis in familial Barrett’s associated neoplasia
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients									Dutch population
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features
Managing gastric cancer risk in lynch syndrome: controversies and recommendations
The needs of Southeast Asian BRCA mutation carriers considering risk-reducing salpingo-oophorectomy: a qualitative study							✓		Southeast Asian
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer
Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group
Genetic predisposition to prostate cancer: an update						✓			European populations; non-European populations
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome
The CAPP II trial of aspirin in Lynch syndrome/HNPCC: is it time for everyone to be treated?
Comparison of universal screening in major lynch-associated tumors: a systematic review of literature
Genetic evaluation of patients and families with concern for hereditary endocrine tumor syndromes