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 2022-05-01 to 2026-05-01.)
ArticleCitations
Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women53
Skin cancer risk in hereditary mixed cancer syndromes34
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers22
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives17
Two novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report17
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome13
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis13
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres13
Prostate Cancer: genetics in practice now and in the future13
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report13
Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis12
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review11
Molecular markers associated with elevated colorectal cancer risk: a mini review10
Genetic testing for hereditary breast cancer in Poland: 1998–202210
Genomic characterization of patients with colorectal cancer9
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 Japan9
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 medica9
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement9
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families8
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature8
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 variants7
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report7
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria7
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case6
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants6
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients6
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis6
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 review6
Case report: a rare BRCA1 de novo variant in a female with breast cancer6
Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience6
Universal testing in endometrial cancer in Sweden6
Time to rethink colorectal cancer prevention strategies for lynch syndrome6
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 hospitals6
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