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 2021-05-01 to 2025-05-01.)

Article	Citations
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	39
Cascade genetic testing: an underutilized pathway to equitable cancer care?	34
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	22
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome	21
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	17
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	15
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	14
Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13–15, 2021	14
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	13
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service	13
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	13
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	13
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	12
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies	12
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	11
Clinician perspectives on policy approaches to genetic risk disclosure in families	10
Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening	10
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients	8
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome	8
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	8
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature	7
Progress report: Peutz–Jeghers syndrome	7
The genetic landscape of Lynch syndrome in the Israeli population	6
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia	6
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	6

Functional and phenotypic consequences of an unusual inversion in MSH2	6
Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature	6
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	6
Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	6
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	6
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	5
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature	5
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	5
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	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
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	5
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	5
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	5
In memoriam: Gloria Petersen, PhD (1950-2023)	5
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	5
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel	5
The best linear unbiased prediction (BLUP) method as a tool to estimate the lifetime risk of pancreatic ductal adenocarcinoma in high-risk individuals with no known pathogenic germline variants	5
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review	5
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy	4
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	4
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	4
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	4
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	4
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	4