Hereditary Cancer in Clinical Practice

Papers
(The TQCC of Hereditary Cancer in Clinical Practice is 4. 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 2021-05-01 to 2025-05-01.)
ArticleCitations
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers35
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives24
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report16
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline16
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres15
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis15
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome13
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland12
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis11
Prostate Cancer: genetics in practice now and in the future10
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system10
Genetic testing for hereditary breast cancer in Poland: 1998–20229
A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review9
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review9
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor8
Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis8
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation8
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome7
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families7
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants7
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature7
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 Japan7
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 medica7
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”6
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement6
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria6
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants5
Universal testing in endometrial cancer in Sweden5
Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?5
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report5
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review4
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants4
Time to rethink colorectal cancer prevention strategies for lynch syndrome4
Beyond the pill: contraception and the prevention of hereditary ovarian cancer4
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews4
Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing4
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants4
Germline mutations among Polish patients with acute myeloid leukemia4
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis4
BRCA2 germline mutation carrier with five malignancies: a case report4
Clinician perspectives on designing and implementing a hereditary cancer transition clinic4
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review4
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients4
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 hospitals4
Cytotoxic and targeted therapy for BRCA1/2-driven cancers4
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore4
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