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

Article	Citations
Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women	53
Skin cancer risk in hereditary mixed cancer syndromes	34
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers	22
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives	17
Two novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report	17
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome	13
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis	13
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres	13
Prostate Cancer: genetics in practice now and in the future	13
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report	13
Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis	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
Molecular markers associated with elevated colorectal cancer risk: a mini review	10
Genetic testing for hereditary breast cancer in Poland: 1998–2022	10
Genomic characterization of patients with colorectal cancer	9
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	9
Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medica	9
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement	9
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families	8
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature	8
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”	8
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants	7
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report	7
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria	7
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients	6

Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis	6
Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?	6
Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review	6
Case report: a rare BRCA1 de novo variant in a female with breast cancer	6
Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience	6
Universal testing in endometrial cancer in Sweden	6
Time to rethink colorectal cancer prevention strategies for lynch syndrome	6
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals	6
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case	6
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants	6
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review	5
Beyond the pill: contraception and the prevention of hereditary ovarian cancer	5
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews	4
BRCA2 germline mutation carrier with five malignancies: a case report	4
Clinician perspectives on designing and implementing a hereditary cancer transition clinic	4
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
Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans	3
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer	3
Unravelling genetic variants of a swedish family with high risk of prostate cancer	3
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome	3
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer	3
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome	3
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report	3
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report	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
Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature	3
Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer	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
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
Modifier genes and Lynch syndrome: some considerations	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
Genomic profiling in Bulgarian women with ovarian cancer: a dual-sample NGS approach	2
Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing	2
Knowledge and perceptions of genetic testing for patients with breast cancer in Nigeria: a survey of healthcare providers	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
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code	2