Familial Cancer - 2016

98 articles | Last updated: 2025-12-03 14:12:56
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Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients
Identification of MSH2 inversion of exons 1–7 in clinical evaluation of families with suspected Lynch syndrome
ATM mutations for surgeons
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome
Four generations of SDHB-related disease: complexities in management
Outcomes of retesting BRCA negative patients using multigene panels
Recurrent TP53 missense mutation in cancer patients of Arab descent Arab descent
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases
Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome
All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients
Detection of false positive mutations in BRCA gene by next generation sequencing
Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor
Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer
Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe
Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations
Colonoscopy in Lynch syndrome: the need for a new quality score
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway
Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores
Pain evaluation during gynaecological surveillance in women with Lynch syndrome
Attenuated polyposis of the large bowel: a morphologic and molecular approach
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer
A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro)
Cystic parathyroid glands in MEN1: A rare entity?
Genetically diagnosed Birt–Hogg–Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report
TP53 and CDKN1A mutation analysis in families with Li–Fraumeni and Li–Fraumeni like syndromes
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Exploring clinicians’ attitudes about using aspirin for risk reduction in people with Lynch Syndrome with no personal diagnosis of colorectal cancer
Pancreas-sparing total duodenectomy for Spigelman stage IV duodenal polyposis associated with familial adenomatous polyposis: experience of 10 cases at a single institution
Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance
Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling
Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases
Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression
BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines
Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene
Do women change their breast cancer mammogram screening behaviour after BRCA1/2 testing?
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
Community attitudes towards a Jewish community BRCA1/2 testing program
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome
Dilemmas in the management of screen-detected lesions in patients at high risk for pancreatic cancer
Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes
A model for patient-direct screening and referral for familial cancer risk
Occurrence of renal cell carcinoma and hematologic malignancies (predominantly lymphoid) in individuals and in families
An investigation of the factors effecting high-risk individuals’ decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC)
Introduction to special issue of Familial Cancer
Surgical considerations in FAP-related pouch surgery: Could we do better?
Angelina and Brad effect
Increased incidence of bladder cancer, lymphoid leukaemia, and myeloma in a cohort of Queensland melanoma families
Chemoprevention of familial adenomatous polyposis
Ventricular fibrillation resulting from electrolyte imbalance reveals vipoma in MEN1 syndrome
Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate
Recent discoveries in the molecular genetics of Lynch syndrome
MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency
Lynch syndrome in South America: past, present and future
Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry
Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer
Genetic counseling and cascade genetic testing in Lynch syndrome
CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome
Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes
Evaluation of TP53 Pro72Arg and MDM2 SNP285–SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations
No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families
Decentralized colonoscopic surveillance with high patient compliance prevents hereditary and familial colorectal cancer
Evolution of cancer risk assessment and counseling related to psychological, financial and legal implications
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma
MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics
Multiple endocrine neoplasia type 1 syndrome: single centre experience from western India
Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study
Colonoscopy and chromoscopy in hereditary colorectal cancer syndromes
Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity
High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine
Müllerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery
Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation
Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
Evaluation of laboratory perspectives on hereditary cancer panels
Controversies in the surgery of patients with familial adenomatous polyposis and Lynch syndrome
Update on Lynch syndrome genomics
Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target
Modeling the dyadic effects of parenting, stress, and coping on parent–child communication in families tested for hereditary breast-ovarian cancer risk
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies
A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population
Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study
Ovarian cancer patients at high risk of BRCA mutation: the constitutional genetic characterization does not change prognosis
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome
CDH1 germline mutations and hereditary lobular breast cancer
The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety
Germline BAP1 mutations misreported as somatic based on tumor-only testing
Developing and assessing the utility of a You-Tube based clinical genetics video channel for families affected by inherited tumours
Relationship of immunohistochemistry, copy number aberrations and epigenetic disorders with BRCAness pattern in hereditary and sporadic breast cancer