OOIR: Observatory of International Research

Papers

(The median citation count of Familial Cancer is 1. 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 2021-06-01 to 2025-06-01.)

Article	Citations
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	35
Cascade genetic testing: an underutilized pathway to equitable cancer care?	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
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
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	13
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	13
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
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	11
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	11
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	10
Clinician perspectives on policy approaches to genetic risk disclosure in families	9
Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening	9
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	8
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome	8
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	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	7
The genetic landscape of Lynch syndrome in the Israeli population	7
Progress report: Peutz–Jeghers syndrome	7
Functional and phenotypic consequences of an unusual inversion in MSH2	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

Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	6
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia	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
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
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	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
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel	5
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	5
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
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
In memoriam: Gloria Petersen, PhD (1950-2023)	5
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	5
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	5
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy	4
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	4
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	4
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow	4
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	4
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions	4
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	4
A large family with MSH3-related polyposis	4
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	3
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre	3
Aberrant transcription caused by an intronic non-canonical CDH1 variant	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
In Memoriam: Steffen Bülow (1943–2023)	3
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	3
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant	3
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals	3
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?	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
Heritable methylation marks associated with prostate cancer risk	3
Eighth International Symposium on hereditary breast and ovarian cancer	3
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022	3
Familial pancreatic cancer: a long fruitful journey	3
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece	2
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?	2
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	2
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam	2
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome	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
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	2
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up	2
Germline whole genome sequencing in adults with multiple primary tumors	2
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study	2

Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women	2
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma	2
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer	2
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis	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
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay	2
Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?	2
Detecting inversions in routine molecular diagnosis in MMR genes	2
Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program	2
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility	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
Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia	1
CHEK2-related breast cancer: real-world challenges	1
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up	1
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic	1
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome	1
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis	1
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review	1
Clinical features of prostate cancer by polygenic risk score	1
Understanding familial risk of pancreatic ductal adenocarcinoma	1
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction	1
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?	1
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence	1
InSiGHT 2022 Abstract Publishing and Best Abstract Awards	1
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants	1
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories	1
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022	1
Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies	1
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant	1
The role of biomarkers in the early detection of pancreatic cancer	1
Surgical aspects related to hereditary pancreatic cancer	1
Editorial for familial cancer: cascade genetic testing	1
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group	1
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	1
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients	1
Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country	1
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant	1
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family	1
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	1
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome	1
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman	1
Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer	1
Colonoscopic surveillance in Lynch syndrome: guidelines in perspective	1
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer	1
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	1