OOIR: Observatory of International Research

Papers

(The median citation count of Familial Cancer is 2. 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 2020-03-01 to 2024-03-01.)

Article	Citations
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis	36
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
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group	19
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)	19
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group	19
Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)	19
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
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire	15
Genetic predisposition to prostate cancer: an update	15
Women’s responses and understanding of polygenic breast cancer risk information	15
Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer	14
Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome	13
Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019	13
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
Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer	10
First international workshop of the ATM and cancer risk group (4-5 December 2019)	10
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
Barriers and facilitators to CDH1 carriers contemplating or undergoing prophylactic total gastrectomy	9
Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies	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
Two cases of somatic STK11 mosaicism in Danish patients with Peutz–Jeghers syndrome	8

New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer	8
Managing gastric cancer risk in lynch syndrome: controversies and recommendations	8
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies	8
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition	8
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
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review	7
Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients	7
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	7
Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas	6
Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome	6
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review	6
Genetic health professionals’ experiences with initiating reanalysis of genomic sequence data	6
Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany	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
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel	6
FRAMe: Familial Risk Assessment of Melanoma—a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma	5
Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting	5
Patient-reported burden of intensified surveillance and surgery in high-risk individuals under pancreatic cancer surveillance	5
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis	5
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?	5
A large family with MSH3-related polyposis	5
Comparison of universal screening in major lynch-associated tumors: a systematic review of literature	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
CDH1 pathogenic variants and cancer risk in an unselected patient population	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
Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer	4
Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer	4
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review	4
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	4
Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals	4
Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome	4
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer	4
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant	4
Potential risks associated with the use of ionizing radiation for imaging and treatment of colorectal cancer in Lynch syndrome patients	4
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	4
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay	4
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	4
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants	3
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes	3
Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1	3
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	3
Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants	3
Is a colorectal neoplasm diagnosis a trigger to change dietary and other lifestyle habits for persons with Lynch syndrome? A prospective cohort study	3
Multiple primary cancers (renal papillary, lymphoma and teratoma) and hepatic cysts in association with a pathogenic germline mutation in the MET gene	3
Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries	3
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	3

Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	3
Age of diagnosis in familial Barrett’s associated neoplasia	3
Low accuracy of self-reported family history of melanoma in high-risk patients	3
Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue	3
Patient reported experiences following laparoscopic prophylactic bilateral salpingo-oophorectomy or salpingectomy in an ambulatory care hospital	3
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories	2
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam	2
The needs of Southeast Asian BRCA mutation carriers considering risk-reducing salpingo-oophorectomy: a qualitative study	2
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations	2
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	2
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study	2
A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions	2
Heritable methylation marks associated with prostate cancer risk	2
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	2
Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report	2
A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel	2
Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma	2
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome	2
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report	2
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction	2
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer	2
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes	2
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	2
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients	2
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	2
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven	2