Highly penetrant hereditary cancer syndromes. (Q35868041)

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31 December 2019

review article

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title

Highly penetrant hereditary cancer syndromes (English)

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31 December 2019

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31 December 2019

Rebecca Nagy

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31 December 2019

Kevin Sweet

series ordinal

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31 December 2019

language of work or name

English

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publication date

1 August 2004

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31 December 2019

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31 December 2019

volume

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31 December 2019

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31 December 2019

page(s)

6445-6470

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Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

31 December 2019

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Mutation of theRET protooncogene in sporadic medullary thyroid carcinoma

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Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome

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Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families

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von Hippel-Lindau disease

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7 January 2021

Endolymphatic sac tumors: Histopathologic confirmation, clinical characterization, and implication in von hippel‐lindau disease

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7 January 2021

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

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7 January 2021

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7 January 2021

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7 January 2021

Germ-line mutations in nonsyndromic pheochromocytoma

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7 January 2021

Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus

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Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation

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7 January 2021

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

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Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

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7 January 2021

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism

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7 January 2021

Cancer risk in 348 French MSH2 or MLH1 gene carriers

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7 January 2021

The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal

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7 January 2021

Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger-Ellison syndrome

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7 January 2021

Risk estimation and screening in families of patients with medullary thyroid carcinoma

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7 January 2021

An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma

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7 January 2021

Juvenile polyps of the colon and rectum

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7 January 2021

Zollinger-Ellison syndrome. Clinical presentation in 261 patients

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7 January 2021

Association of the APC gene product with beta-catenin

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7 January 2021

RIZ, the retinoblastoma protein interacting zinc finger gene, is mutated in genetically unstable cancers of the pancreas, stomach, and colorectum

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7 January 2021

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

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7 January 2021

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

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7 January 2021

Better survival rates in patients with MLH1-associated hereditary colorectal cancer

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7 January 2021

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

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7 January 2021

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

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7 January 2021

Menin induces apoptosis in murine embryonic fibroblasts

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7 January 2021

A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor.

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7 January 2021

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

BRCA1 is a component of the RNA polymerase II holoenzyme

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Association of BRCA1 with Rad51 in mitotic and meiotic cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Germline mutation of RET codon 883 in two cases of de novo MEN 2B.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Increasing evidence that germline mutations inCHEK2 do not cause Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Catalytic specificity of protein-tyrosine kinases is critical for selective signalling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Alleles of the APC gene: an attenuated form of familial polyposis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Activation of a novel human transforming gene, ret, by DNA rearrangement

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Variation in cancer risks, by mutation position, in BRCA2 mutation carriers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Population-based study of risk of breast cancer in carriers of BRCA2 mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Adrenal-cell carcinoma and rhabdomyosarcoma occurring in father and daughter: "SBLA" syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Characterization of a multicomponent receptor for GDNF.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Functional receptor for GDNF encoded by the c-ret proto-oncogene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Glial cell line-derived neurotrophic factor activates the receptor tyrosine kinase RET and promotes kidney morphogenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Laugier-Hunziker syndrome: a clinical, histopathologic, and ultrastructural study of four cases and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

A 10-Mb paracentric inversion of chromosome arm 2p inactivatesMSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Protean PTEN: form and function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

BRCA1 binds c-Myc and inhibits its transcriptional and transforming activity in cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Determinants of metastatic rate and survival in patients with Zollinger-Ellison syndrome: a prospective long-term study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

BRCA1 physically associates with p53 and stimulates its transcriptional activity.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1207714

7 January 2021