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 2021-12-01 to 2025-12-01.)
ArticleCitations
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives44
Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women24
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers23
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report18
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres17
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome16
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis12
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland12
Prostate Cancer: genetics in practice now and in the future12
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system11
Genetic testing for hereditary breast cancer in Poland: 1998–202210
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor10
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review10
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 medica10
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation10
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
Molecular markers associated with elevated colorectal cancer risk: a mini review9
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families9
Genomic characterization of patients with colorectal cancer8
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”8
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature8
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement8
Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?7
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report7
Universal testing in endometrial cancer in Sweden7
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 variants6
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis6
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria6
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients6
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case6
Time to rethink colorectal cancer prevention strategies for lynch syndrome6
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