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 2020-11-01 to 2024-11-01.)
ArticleCitations
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition41
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium27
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review22
Cytotoxic and targeted therapy for BRCA1/2-driven cancers13
Genetic susceptibility to hereditary non-medullary thyroid cancer12
Progress of HOTAIR-microRNA in hepatocellular carcinoma10
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes10
Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations10
Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing9
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system9
Current status of inherited pancreatic cancer9
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis9
BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update8
Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report7
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline7
Evaluation and comparison of hereditary Cancer guidelines in the population7
Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review7
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor7
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement7
Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients6
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience6
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres6
Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation6
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 medica5
Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore5
Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China5
“It was an important part of my treatment”: a qualitative study of Norwegian breast Cancer patients’ experiences with mainstreamed genetic testing5
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report5
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code5
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome5
Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review5
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer5
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation4
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform4
Modifier genes and Lynch syndrome: some considerations4
CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?4
A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review4
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature4
Are population level familial risks and germline genetics meeting each other?4
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer4
Germline mutations among Polish patients with acute myeloid leukemia4
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background4
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews4
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature4
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria3
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome3
Beyond the pill: contraception and the prevention of hereditary ovarian cancer3
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 hospitals3
Clinical implementation of an oncology‐specific family health history risk assessment tool3
Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences3
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system3
Pregnancy after breast cancer in BRCA1/2 mutation carriers3
Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC3
Barriers and facilitators to using aspirin for preventive therapy: a qualitative study exploring the views and experiences of people with Lynch syndrome and healthcare providers3
Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin3
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer3
Clinical challenges in interpreting multiple pathogenic mutations in single patients3
Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report3
Massive parallel sequencing in a family with rectal cancer3
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis3
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis3
CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC3
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants3
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic2
Ultrasound guided needle biopsy of axilla to evaluate nodal metastasis after preoperative systemic therapy in cohort of 106 breast cancers enriched with BRCA1/2 pathogenic variant carriers2
A rare large duplication of MLH1 identified in Lynch syndrome2
Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore2
Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland2
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome2
Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients2
Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine2
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer2
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel2
Advanced adenomas may be a red flag for hereditary cancer syndromes2
Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report2
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening2
CMMRD caused by PMS1 mutation in a sudanese consanguineous family2
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