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 2022-05-01 to 2026-05-01.)

Article	Citations
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	31
Cascade genetic testing: an underutilized pathway to equitable cancer care?	22
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	21
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service	20
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	20
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	17
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	16
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	15
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	14
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	13
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	13
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients	12
Clinician perspectives on policy approaches to genetic risk disclosure in families	12
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature	10
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	9
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	9
The genetic landscape of Lynch syndrome in the Israeli population	9
Functional and phenotypic consequences of an unusual inversion in MSH2	9
Progress report: Peutz–Jeghers syndrome	9
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	8
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia	8
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	8
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	8
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	8
In memoriam: Gloria Petersen, PhD (1950-2023)	7

The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review	7
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	7
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	7
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	7
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	7
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	7
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature	7
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	6
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	6
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	6
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	6
Aberrant transcription caused by an intronic non-canonical CDH1 variant	6
Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO	6
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	6
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy	6
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow	6
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	6
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions	6
In Memoriam: Steffen Bülow (1943–2023)	5
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals	5
Heritable methylation marks associated with prostate cancer risk	5
Germline whole genome sequencing in adults with multiple primary tumors	5
A large family with MSH3-related polyposis	5
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant	5
Familial pancreatic cancer: a long fruitful journey	5
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent	5
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre	5
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022	5
The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC)	5
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes	5
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family	4
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up	4
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	4
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer	4
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis	4
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma	4
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	4
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes	3
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome	3
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022	3
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic	3
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study	3
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma	3
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women	3
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome	3
CHEK2-related breast cancer: real-world challenges	3
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam	3
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer	3
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome	3
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis	3

Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	3
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility	3
InSiGHT 2022 Abstract Publishing and Best Abstract Awards	2
Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions	2
Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country	2
Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC)	2
Surgical aspects related to hereditary pancreatic cancer	2
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant	2
Endoscopic management of familial adenomatous polyposis targeting colorectal lesions greater than 5 mm in size: a single-center retrospective study	2
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients	2
Clinical features of prostate cancer by polygenic risk score	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
The role of biomarkers in the early detection of pancreatic cancer	2
Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation	2
The odyssee from surveillance to the detection of pancreatic cancer, total pancreatectomy, and its impact on life. insights from a p16-Leiden pathogenic variant carrier	2
The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals	2
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?	2
Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia	2
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis	2
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up	2
Understanding familial risk of pancreatic ductal adenocarcinoma	2
Colonoscopic surveillance in Lynch syndrome: guidelines in perspective	2
CGA-IGC 2023 Abstracts	2
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland	2
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction	2
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome	2
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence	2
Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies	2
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report	2
Editorial for familial cancer: cascade genetic testing	2