OOIR: Observatory of International Research

Papers

(The median citation count of Hereditary Cancer in Clinical Practice 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 2022-08-01 to 2026-08-01.)

Article	Citations
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers	56
Skin cancer risk in hereditary mixed cancer syndromes	43
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives	24
Two novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report	21
Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women	18
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report	17
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres	16
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome	14
Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis	13
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis	13
Genetic testing for hereditary breast cancer in Poland: 1998–2022	12
Prostate Cancer: genetics in practice now and in the future	12
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review	11
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan	10
Genomic characterization of patients with colorectal cancer	10
Molecular markers associated with elevated colorectal cancer risk: a mini review	10
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families	9
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement	8
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report	8
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”	8
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria	7
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants	7
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants	7
Universal testing in endometrial cancer in Sweden	7
Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review	7

Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?	7
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case	6
Time to rethink colorectal cancer prevention strategies for lynch syndrome	6
Association analysis of germline variants in GEN1 with a susceptibility to prostate cancer in Polish men	6
Case report: a rare BRCA1 de novo variant in a female with breast cancer	6
BRCA2 reversion mutations as a resistance mechanism to olaparib in patients with BRCA2-mutated mCRPC: a case series	5
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients	5
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis	5
BRCA2 germline mutation carrier with five malignancies: a case report	5
Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience	5
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review	5
Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing	4
Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients	4
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore	4
Genomic profiling in Bulgarian women with ovarian cancer: a dual-sample NGS approach	3
Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing	3
Clinician perspectives on designing and implementing a hereditary cancer transition clinic	3
Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature	3
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome	3
Modifier genes and Lynch syndrome: some considerations	3
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report	3
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome	3
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes	3
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code	3
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer	3
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report	3
Barriers and facilitators of adherence to cancer prevention in Lynch Syndrome: an integrative review	2
Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer	2
Knowledge and perceptions of genetic testing for patients with breast cancer in Nigeria: a survey of healthcare providers	2
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic	2
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience	2
Importance of genetic testing in childhood cancer survivors for hereditary cancer predisposition syndromes	2
A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution	2
Monitoring and treatment patterns of von Hippel-Lindau disease-associated central nervous system hemangioblastomas	2
Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey	2
High familial risks in some rare cancers may pinpoint to hidden germline genetics: focus on esophageal, stomach, small intestinal, testis, thyroid and bone cancers	2
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome	2
Current prospects of hereditary adrenal tumors: towards better clinical management	2
Information needs of Lynch syndrome and BRCA 1/2 mutation carriers considering risk-reducing gynecological surgery: a qualitative study of the decision-making process	2
Adrenal tumours in patients with pathogenic APC mutations: a retrospective study	2
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer	2