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 2021-04-01 to 2025-04-01.)
ArticleCitations
CMMRD caused by PMS1 mutation in a sudanese consanguineous family33
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer24
Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice16
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline15
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers14
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome14
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives13
Blood molybdenum level as a marker of cancer risk on BRCA1 carriers11
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis10
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants10
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 hospitals10
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report9
Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China9
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome8
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience8
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer7
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review7
CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?7
BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer7
Should the BCRA1/2-mutations healthy carriers be valid candidates for hematopoietic stem cell donation?7
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report7
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report7
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome6
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families5
Barriers and facilitators to using aspirin for preventive therapy: a qualitative study exploring the views and experiences of people with Lynch syndrome and healthcare providers5
Age-specific familial risks in cancer as clues to germline genetic and environmental causes: focus on colorectal, endometrial, prostate, kidney, breast and lung cancers5
Beyond the pill: contraception and the prevention of hereditary ovarian cancer5
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience5
Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?5
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer4
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes4
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement4
Are population level familial risks and germline genetics meeting each other?4
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system4
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study4
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis4
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium4
Massive parallel sequencing in a family with rectal cancer4
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature4
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis4
Unravelling genetic variants of a swedish family with high risk of prostate cancer4
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres4
Choices for cancer prevention for women with a BRCA1 mutation? a personal view4
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