Hereditary Cancer in Clinical Practice

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 2022-01-01 to 2026-01-01.)
ArticleCitations
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives45
Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women25
Skin cancer risk in hereditary mixed cancer syndromes23
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers19
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 telomeres16
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome13
Prostate Cancer: genetics in practice now and in the future13
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system12
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 polyposis12
Genetic testing for hereditary breast cancer in Poland: 1998–202211
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review11
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation11
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
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families9
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
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor9
Molecular markers associated with elevated colorectal cancer risk: a mini review9
Genomic characterization of patients with colorectal cancer8
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
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”7
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
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case6
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
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
Time to rethink colorectal cancer prevention strategies for lynch syndrome6
BRCA2 germline mutation carrier with five malignancies: a case report5
Beyond the pill: contraception and the prevention of hereditary ovarian cancer5
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews5
Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience5
Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population5
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review5
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis5
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer4
Unravelling genetic variants of a swedish family with high risk of prostate cancer4
Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients4
Clinician perspectives on designing and implementing a hereditary cancer transition clinic4
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome4
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report4
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore4
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer4
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report4
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 trans4
Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing4
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome3
Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing3
Current prospects of hereditary adrenal tumors: towards better clinical management3
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system3
Modifier genes and Lynch syndrome: some considerations3
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors3
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes3
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code3
Pregnancy after breast cancer in BRCA1/2 mutation carriers3
High familial risks in some rare cancers may pinpoint to hidden germline genetics: focus on esophageal, stomach, small intestinal, testis, thyroid and bone cancers2
Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer2
Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey2
Information needs of Lynch syndrome and BRCA 1/2 mutation carriers considering risk-reducing gynecological surgery: a qualitative study of the decision-making process2
Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland2
“It was an important part of my treatment”: a qualitative study of Norwegian breast Cancer patients’ experiences with mainstreamed genetic testing2
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome2
Knowledge and perceptions of genetic testing for patients with breast cancer in Nigeria: a survey of healthcare providers2
Current status of inherited pancreatic cancer2
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