(Q35868041)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322516%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

review article

1 reference

title

Highly penetrant hereditary cancer syndromes (English)

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31 December 2019

3

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31 December 2019

author name string

Rebecca Nagy

series ordinal

1

1 reference

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31 December 2019

Kevin Sweet

series ordinal

2

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31 December 2019

language of work or name

English

0 references

publication date

1 August 2004

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31 December 2019

1 reference

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31 December 2019

volume

23

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322516%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

6445-6470

1 reference

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31 December 2019

issue

38

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https://scigraph.springernature.com/pub.10.1038/sj.onc.1207714

31 December 2019

exact match

0 references

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Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

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The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations

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The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1

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Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

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Carney complex and the familial lentiginosis syndromes: link to inherited neoplasias and developmental disorders, and genetic loci.

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The genetic basis of colorectal cancer: insights into critical pathways of tumorigenesis

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Malignant potential in intestinal juvenile polyposis syndromes

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Multiple endocrine neoplasia type 1 in patients with recognized pituitary tumours of different types

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High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium

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Screening for MEN1 mutations in patients with atypical endocrine neoplasia

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A survey of phenotypic features in juvenile polyposis

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Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma

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7 January 2021

Inhibition of transcription elongation by the VHL tumor suppressor protein

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GDNF signalling through the Ret receptor tyrosine kinase

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7 January 2021

Mutation of theRET protooncogene in sporadic medullary thyroid carcinoma

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7 January 2021

Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome

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7 January 2021

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

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7 January 2021

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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7 January 2021

p53 gene mutations in pediatric brain tumors

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7 January 2021

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

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The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

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Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene

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Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis

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7 January 2021

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7 January 2021

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

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7 January 2021

Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid—a syndrome

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7 January 2021

Biology of the adenomatous polyposis coli tumor suppressor

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7 January 2021

Identification and characterization of the familial adenomatous polyposis coli gene

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7 January 2021

Gastrointestinal polyposis syndromes

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7 January 2021

Wilms' tumor in the Li-Fraumeni cancer family syndrome

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7 January 2021

Management of duodenal adenomas in 98 patients with familial adenomatous polyposis

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7 January 2021

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

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7 January 2021

Multiple primary cancers in families with Li-Fraumeni syndrome

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7 January 2021

Polyps of the rectum and colon in children

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7 January 2021

Biallelic inactivation of BRCA2 in Fanconi anemia

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7 January 2021

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.

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7 January 2021

Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein

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7 January 2021

pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation

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7 January 2021

TSC2 mediates cellular energy response to control cell growth and survival

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7 January 2021

A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria.

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7 January 2021

Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival

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7 January 2021

Familial juvenile polyposis coli; increased risk of colorectal cancer

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7 January 2021

Homologous repair of DNA damage and tumorigenesis: the BRCA connection

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7 January 2021

Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance

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7 January 2021

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

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7 January 2021

Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register

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7 January 2021

Identification of FAP locus genes from chromosome 5q21

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7 January 2021

A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor

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7 January 2021

Neurturin, a relative of glial-cell-line-derived neurotrophic factor

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7 January 2021

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

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7 January 2021

von Hippel-Lindau disease affecting 43 members of a single kindred

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7 January 2021

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.

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7 January 2021

Identification of the von Hippel-Lindau disease tumor suppressor gene

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7 January 2021

Hypoxia-inducible protein binding to vascular endothelial growth factor mRNA and its modulation by the von Hippel-Lindau protein

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7 January 2021

PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

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7 January 2021

Evidence of a founder BRCA1 mutation in Scotland

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7 January 2021

Cancer family “G” revisited: 1895-1970

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7 January 2021

Hereditary colorectal cancer

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7 January 2021

Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma

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7 January 2021

Colorectal cancer, survival advantage, and hereditary nonpolyposis colorectal carcinoma

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7 January 2021

A genetic register for von Hippel-Lindau disease

1 reference

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

7 January 2021

The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate

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

7 January 2021

Von Hippel-Lindau disease: a genetic study

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7 January 2021

von Hippel-Lindau disease

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7 January 2021

Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms

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7 January 2021

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

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7 January 2021

Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability

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7 January 2021

Multiple colorectal adenomas--is their number up?

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7 January 2021

A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10

1 reference

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

7 January 2021

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

1 reference

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

7 January 2021

Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma

1 reference

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

7 January 2021

Endolymphatic sac tumors: histopathologic confirmation, clinical characterization, and implication in von Hippel-Lindau disease.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Genetic and clinical characterisation of familial adenomatous polyposis: a population based study

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

7 January 2021

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

1 reference

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

7 January 2021

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

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7 January 2021

Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2

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

7 January 2021

The lipid phosphatase activity of PTEN is critical for its tumor supressor function

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

7 January 2021

P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase

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

7 January 2021

Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin.

1 reference

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7 January 2021

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

1 reference

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

7 January 2021

Germ-line mutations in nonsyndromic pheochromocytoma

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Surgery to cure the Zollinger-Ellison syndrome

1 reference

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

7 January 2021

Germline BRCA1 185delAG mutations in Jewish women with breast cancer

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Cancer risk in 348 French MSH2 or MLH1 gene carriers

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Juvenile polyps of the colon and rectum

1 reference

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

7 January 2021

Zollinger-Ellison syndrome. Clinical presentation in 261 patients

1 reference

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

7 January 2021

Association of the APC gene product with beta-catenin

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

1 reference

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

7 January 2021

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

1 reference

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

7 January 2021

Menin induces apoptosis in murine embryonic fibroblasts

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

7 January 2021

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

1 reference

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

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

Mutations of the VHL tumour suppressor gene in renal carcinoma

1 reference

24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1038/NG0594-85

Identifiers

DOI

10.1038/SJ.ONC.1207714

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15322516%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference