| Predictive testing for pre-malignancy as a prelude to adoption? An English case |
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| Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family |
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| A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype |
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| No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome |
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| Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain |
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| Mismatch repair protein expression and colorectal cancer in Hispanics from Puerto Rico |
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| Biallelic MYH germline mutations as cause of Muir-Torre syndrome |
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| Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years |
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| Evolving perspectives on genetic discrimination in health insurance among health care providers |
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| Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient |
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| Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection |
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| Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation |
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| Serum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with Lynch syndrome |
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| Erratum to: FAP-associated desmoid invasiveness correlates with in vitro resistance to doxorubicin |
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| Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing |
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| Retrospective comparison of patient outcomes after in-person and telephone results disclosure counseling for BRCA1/2 genetic testing |
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| Heredity, diet and lifestyle as determining risk factors for the esophageal cancer on Nanao Island in Southern China |
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| An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC |
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✓ |
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Ashkenazi |
| Predictive genetic testing in children: where are we now? An overview and a UK perspective |
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| Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil |
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| Outcomes of nasopharyngeal carcinoma screening for high risk family members in Hong Kong |
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| Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families |
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| Recommendations to improve identification of hereditary and familial colorectal cancer in Europe |
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| A PALB2 germline mutation associated with hereditary breast cancer in Italy |
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| The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis |
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| A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations |
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| Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome |
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| FAP-associated desmoid invasiveness correlates with in vitro resistance to doxorubicin |
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| Molecular study of CEPBA in familial hematological malignancies |
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| Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis |
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| Frequent alterations of the PI3K/AKT/mTOR pathways in hereditary nonpolyposis colorectal cancer |
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| The correlation between a family history of colorectal cancer and survival of patients with colorectal cancer |
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| The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30 |
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| p53 tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li–Fraumeni syndrome and a child with adrenocortical carcinoma |
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| Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients |
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| Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation |
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| Are guidelines for genetic testing of children necessary? |
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| Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay |
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| Association of MUTYH and MSH6 germline mutations in colorectal cancer patients |
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| Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome |
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| Predictive genetic testing in a young child: a case report |
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| Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing |
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| Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population |
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| Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease |
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| A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions |
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| Genetic testing in children and young people |
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| Attitude towards pre-implantation genetic diagnosis for hereditary cancer |
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| Are prediction models for Lynch syndrome valid for probands with endometrial cancer? |
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| Younger age-at-diagnosis for familial malignant testicular germ cell tumor |
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| On the development of a decision support intervention for mothers undergoing BRCA1/2 cancer genetic testing regarding communicating test results to their children |
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| Genetic testing of children for familial cancers: a comparative legal perspective on consent, communication of information and confidentiality |
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| Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations |
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✓ |
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ethnically diverse populations |
| Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer |
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| Childhood genetic testing for familial cancer: should adoption make a difference? |
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| Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer |
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| What is at stake in the predictive genetic testing of children? |
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| Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome |
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| Strategies for endometrial screening in the Lynch syndrome population: a patient acceptability study |
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| Factors associated with intrusive cancer-related worries in women undergoing cancer genetic risk assessment |
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| Cancer genetic predisposition: information needs of patients irrespective of risk level |
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| The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women |
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✓ |
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Jewish Ashkenazi |
| A high frequent BRCA1 founder mutation identified in the Greenlandic population |
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| Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome |
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| Health-related direct-to-consumer genetic testing: a review of companies’ policies with regard to genetic testing in minors |
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| Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes |
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| TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset |
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| Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation |
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| Survey of unaffected BRCA and mismatch repair (MMR) mutation positive individuals |
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| Familial nasopharyngeal carcinoma in Hong Kong: epidemiology and implication in screening |
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| First case report of Muir–Torre syndrome associated with non-small cell lung cancer |
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| Childhood predictive genetic testing for Li–Fraumeni syndrome |
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| CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia |
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| Primary care providers’ willingness to recommend BRCA1/2 testing to adolescents |
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| Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting |
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| PALB2 sequence variants in young South African breast cancer patients |
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| Methylation not a frequent “second hit” in tumors with germline BRCA mutations |
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| Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact |
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| Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis |
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| Genetic polymorphism in ornithine decarboxylase and risk of breast cancer |
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| The relationship between knowledge of family history and cancer characteristics at diagnosis in women newly-diagnosed with invasive breast cancer |
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| Health behaviors among Ashkenazi Jewish individuals receiving counseling for BRCA1 and BRCA2 mutations |
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✓ |
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Ashkenazi Jewish |
| SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis |
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| Men in the women’s world of hereditary breast and ovarian cancer—a systematic review |
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| Lymphocyte recruitment into the tumor site is altered in patients with MSI-H colon cancer |
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| Consistency of self-reported first-degree family history of cancer in a population-based study |
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| Evidence of tumor microsatellite instability in gastric cancer with familial aggregation |
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| Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum |
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| Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin |
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✓ |
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Portuguese; Galician origin |
| Breast cancer immunohistochemistry can be useful in triage of some HNPCC families |
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