Familial Cancer - 2014

79 articles | Last updated: 2025-12-03 14:12:56
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Impact of BRCA1/2 mutation on young women’s 5-year parenthood rates: a prospective comparative study (GENEPSO-PS cohort)
The roles of AXIN2 in tumorigenesis and epigenetic regulation
Comparison of proctocolectomy and ileal pouch-anal anastomosis to colectomy and ileorectal anastomosis in familial adenomatous polyposis
Parental age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative
Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
18th annual meeting: Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)
First-Line sunitinib in patients with renal cell carcinoma (RCC) in von Hippel–Lindau (VHL) disease: clinical outcome and patterns of radiological response
Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing
Health professionals’ evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer
Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk
Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability
Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review
Single nucleotide polymorphisms in PDCD6 gene are associated with the development of cervical squamous cell carcinoma
The impact of risk-reducing gynaecological surgery in premenopausal women at high risk of endometrial and ovarian cancer due to Lynch syndrome
Down-regulation of malignant potential by alpha linolenic acid in human and mouse colon cancer cells
Desmoid tumour in familial adenomatous polyposis patients: responses to treatments
Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome
Long-term outcomes of risk-reducing surgery in unaffected women at increased familial risk of breast and/or ovarian cancer
Mitochondrial membrane potential and reactive oxygen species in cancer stem cells
Familial and sporadic pancreatic cancer share the same molecular pathogenesis
Outcomes of genetic evaluation for hereditary cancer syndromes in unaffected individuals
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li–Fraumeni syndrome
MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome: a case report
A polymorphism at miRNA-122-binding site in the IL-1α 3′UTR is associated with risk of epithelial ovarian cancer
Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe
Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case
Association of reduced XRCC2 expression with lymph node metastasis in breast cancer tissues
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes
Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations
Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing
Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women
Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry
The secondary bile acid, deoxycholate accelerates intestinal adenoma–adenocarcinoma sequence in Apc min/+ mice through enhancing Wnt signaling
Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations
A primary care audit of familial risk in patients with a personal history of breast cancer
High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families
Phenotype of SDHB mutation carriers in the Netherlands
Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment
“It’s all very well reading the letters in the genome, but it’s a long way to being able to write”: Men’s interpretations of undergoing genetic profiling to determine future risk of prostate cancer
Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients
Cribriform-morular variant of papillary thyroid carcinoma: an indication to screen for occult FAP
Erratum to: Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India
Association of interleukin-23 receptor gene polymorphisms with risk of bladder cancer in Chinese
Genetic 135G/C polymorphism of RAD51 gene and risk of cancer: a meta-analysis of 28,956 cases and 28,372 controls
Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples
A survey of the practice patterns of gynecologic oncologists dealing with hereditary cancer patients in Japan
Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome
Genetics of endometrial cancer
How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents’ experience
Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate
“Would you test your children without their consent?” and other sticky dilemmas in the field of cancer genetic testing
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns
Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies
Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives
BRCA1 founder mutations compared to ovarian cancer in Belarus
An unusual case of familial adenomatous polyposis with very early symptom occurrence
BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan
Influence of family history on psychosocial distress and perceived need for treatment in prostate cancer survivors
Fertility and apparent genetic anticipation in Lynch syndrome
Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations
Intronic splicing mutations in PTCH1 cause Gorlin syndrome
Analysis of patient reports on the referral process to two NSW cancer genetic services
Limited diagnostic value of microsatellite instability associated pathology features in colorectal cancer
Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry
A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study
Attitudes and compliance of clinical management after genetic testing for hereditary breast and ovarian cancer among high-risk Southern Chinese females with breast cancer history
Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome
Duplex value of caveolin-1 in non-small cell lung cancer: a meta analysis
Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea
Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC)
Providing patient education: impact on quantity and quality of family health history collection
Deletion of exons 1–3 of the MEN1 gene in a large Italian family causes the loss of menin expression
Capsule endoscopy versus magnetic resonance enterography for the detection of small bowel polyps in Peutz–Jeghers syndrome
The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancer
Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study
Baseline and post prophylactic tubal–ovarian surgery CA125 levels in BRCA1 and BRCA2 mutation carriers