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 2021-09-01 to 2025-09-01.)

Article	Citations
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	24
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	22
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	17
Cascade genetic testing: an underutilized pathway to equitable cancer care?	15
Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13–15, 2021	14
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	14
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service	13
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	12
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	11
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	11
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	11
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	9
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	8
Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening	8
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	8
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	7
Clinician perspectives on policy approaches to genetic risk disclosure in families	7
Progress report: Peutz–Jeghers syndrome	7
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients	7
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature	6
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	6
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	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
The genetic landscape of Lynch syndrome in the Israeli population	6
Functional and phenotypic consequences of an unusual inversion in MSH2	6

Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia	6
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	6
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome	6
Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	6
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	6
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	6
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	5
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	5
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	5
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	5
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	5
In memoriam: Gloria Petersen, PhD (1950-2023)	5
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	5
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	5
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	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	5
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature	5
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	5
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions	4
Aberrant transcription caused by an intronic non-canonical CDH1 variant	4
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	4
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	4
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow	3
Heritable methylation marks associated with prostate cancer risk	3
Eighth International Symposium on hereditary breast and ovarian cancer	3
The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC)	3
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	3
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals	3
A large family with MSH3-related polyposis	3
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant	3
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022	3
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?	3
Germline whole genome sequencing in adults with multiple primary tumors	3
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes	3
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	3
In Memoriam: Steffen Bülow (1943–2023)	3
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre	3
Familial pancreatic cancer: a long fruitful journey	3
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis	3
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	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
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome	2
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome	2
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women	2
Detecting inversions in routine molecular diagnosis in MMR genes	2
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?	2
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma	2
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer	2
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022	2

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories	2
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam	2
Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?	2
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer	2
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family	2
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study	2
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility	2
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant	2
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis	2
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome	2
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma	2
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	2
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece	2
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up	2