OOIR: Observatory of International Research

Papers

(The TQCC of Familial Cancer is 4. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-10-01 to 2024-10-01.)

Article	Citations
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management	35
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group	26
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group	25
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)	22
Genetic predisposition to prostate cancer: an update	22
Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer	18
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire	16
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	16
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies	13
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	11
Managing gastric cancer risk in lynch syndrome: controversies and recommendations	11
First international workshop of the ATM and cancer risk group (4-5 December 2019)	11
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	11
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	10
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition	10
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel	10
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population	10
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review	10
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features	9
Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program	9
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review	8
Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies	8
Potential risks associated with the use of ionizing radiation for imaging and treatment of colorectal cancer in Lynch syndrome patients	8
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer	8
A large family with MSH3-related polyposis	8

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?	6
“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants	6
CDH1 pathogenic variants and cancer risk in an unselected patient population	6
Comparison of universal screening in major lynch-associated tumors: a systematic review of literature	6
Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting	6
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	6
Unusual phenotypes in patients with a pathogenic germline variant in DICER1	5
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review	5
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	5
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study	5
Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome	5
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	5
The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1	5
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant	5
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis	5
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	5
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants	5
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay	5
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	5
Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries	4
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis	4
Heritable methylation marks associated with prostate cancer risk	4
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	4
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome	4
Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer	4
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	4
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer	4