| EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients |
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| Unmet support needs and distress among women with a BRCA1/2 mutation |
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| A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation |
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| Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients |
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| A complex endocrine conundrum |
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| Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India |
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| Cancer family history triage: a key step in the decision to offer screening and genetic testing |
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| Body image issues after bilateral prophylactic mastectomy with breast reconstruction in healthy women at risk for hereditary breast cancer |
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| A novel missense mutation (N78D) in a family with von Hippel–Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts |
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| Psychosocial factors and uptake of risk-reducing salpingo-oophorectomy in women at high risk for ovarian cancer |
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| A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis |
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| 10 rare tumors that warrant a genetics referral |
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| Birt–Hogg–Dubé: beyond the clinical manifestations |
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| Multiple small “imaging” branch-duct type intraductal papillary mucinous neoplasms (IPMNs) in familial pancreatic cancer: indicator for concomitant high grade pancreatic intraepithelial neoplasia? |
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| An unusual BRCA mutation distribution in a high risk cancer genetics clinic |
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| The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study |
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| The deletion of exons 3–5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families |
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| Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies |
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| Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation |
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| Birt–Hogg–Dubé: tumour suppressor function and signalling dynamics central to folliculin |
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| Feasibility evaluation of an online tool to guide decisions for BRCA1/2 mutation carriers |
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| Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier |
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| The spectrum of urological malignancy in Lynch syndrome |
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| Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis |
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| Catalysts to withdrawal from familial ovarian cancer screening for surgery and reactions to discontinued screening: a qualitative study |
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| Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review |
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| Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors |
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| Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families |
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✓ |
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Czech |
| Ovarian metastases of colorectal and duodenal cancer in familial adenomatous polyposis |
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| Familial breast cancer: less emotional distress in adult daughters if they provide emotional support to their affected mother |
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| Low penetrance alleles as risk modifiers in familial and sporadic breast cancer |
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| Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open? |
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| Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act |
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| Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations |
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| Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation |
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| Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer |
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| No evidence for breast cancer susceptibility associated with variants of BRD7, a component of p53 and BRCA1 pathways |
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| High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer |
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| Non-synonymous polymorphism (Gln261Arg) of 12-lipoxygenase in colorectal and thyroid cancers |
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| Routine TP53 testing for breast cancer under age 30: ready for prime time? |
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| Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment |
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| Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma |
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| Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas |
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| Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype |
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| Novel mutations of OGG1 base excision repair pathway gene in laryngeal cancer patients |
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| Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation |
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| Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome |
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| Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome |
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| Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome |
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| Advanced duodenal disease in familial adenomatous polyposis: how frequently should patients be followed up after successful therapy? |
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| The Fourth Birt–Hogg–Dubé Symposium, Cincinnati, USA, 28th–30th March, 2012 |
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| Hope-based intervention for individuals susceptible to colorectal cancer: a pilot study |
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| High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis |
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| Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma |
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| Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry |
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| Outcomes of a systems-level intervention offering breast cancer risk assessments to low-income underserved women |
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| Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome |
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| Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families |
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| Causes of death of mutation carriers in Finnish Lynch syndrome families |
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| Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence? |
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| Closing the loop: an interactive action-research conference format for delivering updated medical information while eliciting Latina patient/family experiences and psychosocial needs post-genetic canc |
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| Microsatellite instability testing in Korean patients with colorectal cancer |
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✓ |
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Korean |
| The IL-10 promoter haplotype and cancer risk: evidence from a meta-analysis |
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| A multidisciplinary clinic for individualizing management of patients at increased risk for breast and gynecologic cancer |
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| Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer |
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✓ |
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Finnish |
| Breast cancer risk factors differ between Asian and white women with BRCA1/2 mutations |
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✓ |
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✓ |
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Asian |
| Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome |
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| French experts report on MUTYH-associated polyposis (MAP) |
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| Uroepithelial and kidney carcinoma in Lynch syndrome |
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| Mutation screening of RAD51C in high-risk breast and ovarian cancer families |
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| The consequences of risk reducing salpingo-oophorectomy: the case for a coordinated approach to long-term follow up post surgical menopause |
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| Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up |
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| The evolution of personalized cancer genetic counseling in the era of personalized medicine |
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| The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees’ outcome |
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| Adequacy of family history taking in ovarian cancer patients: a population-based study |
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| Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance |
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| Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families |
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| Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes |
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| Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases |
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| Families’ experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population |
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| Common MUTYH mutations and colorectal cancer risk in multiethnic populations |
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| French women’s breast self-examination practices with time after undergoing BRCA1/2 genetic testing |
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| Predictive genetic testing of first degree relatives of mutation carriers is a cost-effective strategy in preventing hereditary non-polyposis colorectal cancer in Singapore |
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| A prospective study of bowel preparation for colonoscopy with polyethylene glycol-electrolyte solution versus sodium phosphate in Lynch syndrome: a randomized trial |
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| Prevalence of TP53 germ line mutations in young Pakistani breast cancer patients |
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| Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative |
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| Can a gastrointestinal pathologist identify microsatellite instability in colorectal cancer with reproducibility and a high degree of specificity? |
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| The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer |
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