OOIR: Observatory of International Research

Papers

(The TQCC of Familial Cancer is 5. 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 2020-04-01 to 2024-04-01.)

Article	Citations
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management	29
Chemoprevention in familial adenomatous polyposis: past, present and future	27
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group	20
Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)	19
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)	19
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group	19
Genetic predisposition to prostate cancer: an update	18
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report	16
Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer	15
Women’s responses and understanding of polygenic breast cancer risk information	15
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire	15
Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019	14
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group	11
Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics	11
First international workshop of the ATM and cancer risk group (4-5 December 2019)	10
Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer	10
Barriers and facilitators to CDH1 carriers contemplating or undergoing prophylactic total gastrectomy	9
Improving primary care identification of familial breast cancer risk using proactive invitation and decision support	9
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features	9
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	9
Managing gastric cancer risk in lynch syndrome: controversies and recommendations	8
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	8
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition	8
Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies	8
New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer	8

Two cases of somatic STK11 mosaicism in Danish patients with Peutz–Jeghers syndrome	8
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies	8
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review	7
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review	7
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	7
Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients	7
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population	7
Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program	7
Comparison of universal screening in major lynch-associated tumors: a systematic review of literature	6
Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas	6
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
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	6
Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome	6
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel	6
Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals	5
Unusual phenotypes in patients with a pathogenic germline variant in DICER1	5
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing	5
Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series	5
FRAMe: Familial Risk Assessment of Melanoma—a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma	5
CDH1 pathogenic variants and cancer risk in an unselected patient population	5
A large family with MSH3-related polyposis	5
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis	5
Potential risks associated with the use of ionizing radiation for imaging and treatment of colorectal cancer in Lynch syndrome patients	5
Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting	5
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal 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