Hereditary Cancer in Clinical Practice

Papers
(The TQCC of Hereditary Cancer in Clinical Practice is 6. 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.)
ArticleCitations
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers56
Skin cancer risk in hereditary mixed cancer syndromes43
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives24
Two novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report21
Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women18
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report17
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres16
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome14
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis13
Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis13
Genetic testing for hereditary breast cancer in Poland: 1998–202212
Prostate Cancer: genetics in practice now and in the future12
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review11
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 Japan10
Genomic characterization of patients with colorectal cancer10
Molecular markers associated with elevated colorectal cancer risk: a mini review10
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families9
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement8
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report8
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”8
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria7
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants7
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants7
Universal testing in endometrial cancer in Sweden7
Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review7
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 case6
Time to rethink colorectal cancer prevention strategies for lynch syndrome6
Association analysis of germline variants in GEN1 with a susceptibility to prostate cancer in Polish men6
Case report: a rare BRCA1 de novo variant in a female with breast cancer6
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