Lista de obras - Sylviane Olschwang - Dominio Público Uruguay

8q24 Cancer risk allele associated with major metastatic risk in inflammatory breast cancer

artículo científico publicado en 2012

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

article

A multicenter blinded study evaluating EGFR and KRAS mutation testing methods in the clinical non-small cell lung cancer setting--IFCT/ERMETIC2 Project Part 1: Comparison of testing methods in 20 French molecular genetic National Cancer Institute pl

artículo científico publicado en 2013

A polymorphism of EGFR extracellular domain is associated with progression free-survival in metastatic colorectal cancer patients receiving cetuximab-based treatment

artículo científico publicado en 2008

A seven-gene signature aggregates a subgroup of stage II colon cancers with stage III.

artículo científico publicado en 2012

Actionable Genes, Core Databases, and Locus-Specific Databases.

artículo científico publicado en 2016

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

artículo científico publicado en 2009

Analysis of candidate genes in occurrence and growth of colorectal adenomas

artículo científico publicado en 2009

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

artículo científico publicado en 2004

Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients

scientific article published on 01 September 2003

BRAF p.Val600Glu (V600E) somatic mutation is mainly associated with MSS phenotype in metastatic colorectal cancer

artículo científico publicado el 1 de enero de 2011

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

artículo científico publicado en 2003

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

artículo científico publicado en 2010

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

artículo científico publicado en 2011

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

scientific article published on 28 January 2020

Chronic iron-deficiency anemia caused by a jejunojejunal intussusception on a solitary hamartomatous polyp

scientific article published on 01 April 2010

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.

artículo científico publicado en 2014

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

artículo científico publicado en 2018

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2)

artículo científico publicado en 2010

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.

artículo científico publicado en 2012

Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).

artículo científico publicado en 2011

Colonoscopic screening of first-degree relatives of patients with large adenomas: increased risk of colorectal tumors

scientific article published on 25 July 2007

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias

artículo científico publicado en 2010

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

scientific article published on 01 January 2005

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

Contribution of Ultrasonography to Endometrial Cancer Screening in Patients With Hereditary Nonpolyposis Colorectal Cancer/Lynch Syndrome

Contributions récentes pour l’identification et le dépistage du syndrome de Lynch

artículo científico publicado en 2007

Cross-Validation Study for Epidermal Growth Factor Receptor and KRAS Mutation Detection in 74 Blinded Non-small Cell Lung Carcinoma Samples: A Total of 5550 Exons Sequenced by 15 Molecular French Laboratories (Evaluation of the EGFR Mutation Status f

article

Deletion mapping of the tumor suppressor locus involved in colorectal cancer on chromosome band 8p21

artículo científico publicado en 1999

Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance

scientific article published on 28 March 2013

Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis.

artículo científico publicado en 2008

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

artículo científico publicado en 2008

Expression Profiles in Stage II Colon Cancer According to APC Gene Status.

artículo científico publicado en 2012

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer

artículo científico publicado en 2007

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

artículo científico publicado en 2006

Frequent intragenic rearrangements of DPYD in colorectal tumours

article

Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity.

artículo científico publicado en 2005

Gastric adenocarcinoma in familial adenomatous polyposis can occur without previous lesions.

artículo científico publicado en 2014

Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value

artículo científico publicado en 2013

Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma

artículo científico publicado en 2006

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes

artículo científico publicado en 2008

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

artículo científico publicado en 2007

Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue

artículo científico publicado en 2019

Genomic profile of colon cancer metastases

artículo científico publicado en 2008

Genomic variations integrated database forMUTYH-associated adenomatous polyposis

artículo científico publicado en 2014

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

artículo científico publicado en 2004

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

artículo científico publicado en 2010

Germline mutation profile of theVHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma

article

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

article

Hereditary nonpolyposis colorectal cancer. Definition, genetics, diagnosis, and medical surveillance

artículo científico publicado el 1 de agosto de 2003

High frequency of chromosome 14 deletion in early-onset colon cancer.

artículo científico publicado en 2007

High-resolution analysis of DNA copy number alterations in rectal cancer: correlation with metastasis, survival, and mRNA expression

artículo científico publicado en 2014

High-resolution genotyping of chromosome 8 in colon adenocarcinomas reveals recurrent break point but no gene mutation in the 8p21 region

scientific article published on 01 June 2008

Hysteroscopic findings in women at risk of HNPCC. Results of a prospective observational study

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based ApproachVersusMolecular Screening

artículo científico publicado en 2008

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.

artículo científico publicado en 2017

Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?

artículo científico publicado en 2012

KRAS mutation spectrum notably diverges between non-small cell lung and colorectal carcinomas

artículo científico publicado en 2012

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

artículo científico publicado en 2013

Leiden Open Variation Database of the MUTYH gene

artículo científico publicado en 2010

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

artículo científico publicado en 2011

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

article

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

scientific article published on 01 February 2002

Mastocytose cutanée maculopapuleuse métamérique

scientific article published on 21 October 2016

Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for hMSH6 [correction of hMLH6] immunostaining

artículo científico publicado en 2003

Mitochondrial D310 mutations in colorectal adenomas: An early but not causative genetic event during colorectal carcinogenesis

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

artículo científico publicado en 2017

Molecular patterns in deficient mismatch repair colorectal tumours: results from a French prospective multicentric biological and genetic study

artículo científico publicado en 2014

Mucinous colon carcinomas with microsatellite instability have a lower microvessel density and lower vascular endothelial growth factor expression.

artículo científico publicado en 2002

Multicenter study of ZAP-70 expression in patients with B-cell chronic lymphocytic leukemia using an optimized flow cytometry method.

artículo científico publicado en 2008

Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

artículo científico publicado en 2009

New types of MYST3-CBP and CBP-MYST3 fusion transcripts in t(8;16)(p11;p13) acute myeloid leukemias

scientific article published on 01 February 2007

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

artículo científico publicado en 2015

PIK3CA mutations predict recurrence in localized microsatellite stable colon cancer

artículo científico publicado en 2015

Pan Aurora Kinase Inhibitor: A Promising Targeted-Therapy in Dedifferentiated Liposarcomas With Differential Efficiency Depending on Sarcoma Molecular Profile

artículo científico publicado en 2020

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2007

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

artículo científico publicado en 2016

Prédispositions héréditaires au cancer colorectal

artículo científico publicado en 2005

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome

artículo científico publicado en 2009

Rearrangements involving 12q in myeloproliferative disorders: possible role of HMGA2 and SOCS2 genes

scientific article published on 01 July 2007

Relative frequency and morphology of cancers in STK11 mutation carriers

artículo científico publicado en 2004

Retention of chromosome arm 5q in stage II colon cancers identifies 83% of liver metastasis occurrences.

artículo científico publicado en 2006

SMAD4 Germinal Mosaicism in a Family with Juvenile Polyposis and Hypertrophic Osteoarthropathy

scientific article published on 01 July 2005

SMAD4 protein expression and cell proliferation in colorectal adenocarcinomas ⬇️

artículo científico publicado el 16 de octubre de 2011

SMAD4-related Familial Juvenile Polyposis Syndrome with Colon Cancer

artículo científico publicado en 2004

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis ⬇️

artículo científico publicado el 24 de enero de 2011

Semiparametric inference on the penetrances of rare genetic mutations based on a case-family design

artículo científico publicado en 2013

Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

artículo científico publicado en 2007

Statistical inference on the penetrances of rare genetic mutations based on a case-family design

artículo científico publicado en 2010

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

scientific article published on 01 September 2005

The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors

artículo científico publicado en 2018

The LKB1 complex-AMPK pathway: the tree that hides the forest

artículo científico publicado en 2011

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations

artículo científico publicado en 2014

The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome

artículo científico publicado en 2011

The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

artículo científico publicado en 2007

Tissue microarray technology: validation in colorectal carcinoma and analysis of p53, hMLH1, and hMSH2 immunohistochemical expression

artículo científico publicado en 2003

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

artículo científico publicado en 2013

Usefulness of prophylactic gastrectomy in a novel large hereditary diffuse gastric cancer (HDGC) family

artículo científico publicado en 2008

Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro

scientific article published on 01 June 2005

Vascular Endothelial Growth Factor A c.*237C>T polymorphism is associated with bevacizumab efficacy and related hypertension in metastatic colorectal cancer.

artículo científico publicado en 2014

Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis

scientific article published on 01 October 2005

Y253H mutation appearing in a micro-BCR-ABL (e19a2) CML

scientific article published on 06 April 2007

[A problem of public health]

artículo científico publicado en 2009

[Desmoid tumors in children: current strategy].

artículo científico publicado en 2013

[Early-onset colorectal carcinoma study]

artículo científico publicado en 2009

[Genetic factors and colorectal cancers development: therapeutic impact]

artículo científico publicado en 2006

[Genomics and genetics genome projects].

artículo científico publicado en 2009

[Hereditary colorectal cancer]

artículo científico publicado en 2010

[Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas]

artículo científico publicado en 2004

[OISO, automatic treatment of patients management in oncogenetics].

artículo científico publicado en 2017

[Polyposis coli: a practical approach].

artículo científico publicado en 2005

Lista de obras de Sylviane Olschwang

8q24 Cancer risk allele associated with major metastatic risk in inflammatory breast cancer

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

A multicenter blinded study evaluating EGFR and KRAS mutation testing methods in the clinical non-small cell lung cancer setting--IFCT/ERMETIC2 Project Part 1: Comparison of testing methods in 20 French molecular genetic National Cancer Institute pl

A polymorphism of EGFR extracellular domain is associated with progression free-survival in metastatic colorectal cancer patients receiving cetuximab-based treatment

A seven-gene signature aggregates a subgroup of stage II colon cancers with stage III.

Actionable Genes, Core Databases, and Locus-Specific Databases.

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

Analysis of candidate genes in occurrence and growth of colorectal adenomas

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients

BRAF p.Val600Glu (V600E) somatic mutation is mainly associated with MSS phenotype in metastatic colorectal cancer

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

Chronic iron-deficiency anemia caused by a jejunojejunal intussusception on a solitary hamartomatous polyp

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2)

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.

Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).

Colonoscopic screening of first-degree relatives of patients with large adenomas: increased risk of colorectal tumors

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

Contribution of Ultrasonography to Endometrial Cancer Screening in Patients With Hereditary Nonpolyposis Colorectal Cancer/Lynch Syndrome

Contributions récentes pour l’identification et le dépistage du syndrome de Lynch

Cross-Validation Study for Epidermal Growth Factor Receptor and KRAS Mutation Detection in 74 Blinded Non-small Cell Lung Carcinoma Samples: A Total of 5550 Exons Sequenced by 15 Molecular French Laboratories (Evaluation of the EGFR Mutation Status f

Deletion mapping of the tumor suppressor locus involved in colorectal cancer on chromosome band 8p21

Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance

Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis.

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

Expression Profiles in Stage II Colon Cancer According to APC Gene Status.

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

Frequent intragenic rearrangements of DPYD in colorectal tumours

Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity.

Gastric adenocarcinoma in familial adenomatous polyposis can occur without previous lesions.

Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value

Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue

Genomic profile of colon cancer metastases

Genomic variations integrated database forMUTYH-associated adenomatous polyposis

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

Germline mutation profile of theVHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

Hereditary nonpolyposis colorectal cancer. Definition, genetics, diagnosis, and medical surveillance

High frequency of chromosome 14 deletion in early-onset colon cancer.

High-resolution analysis of DNA copy number alterations in rectal cancer: correlation with metastasis, survival, and mRNA expression

High-resolution genotyping of chromosome 8 in colon adenocarcinomas reveals recurrent break point but no gene mutation in the 8p21 region

Hysteroscopic findings in women at risk of HNPCC. Results of a prospective observational study

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based ApproachVersusMolecular Screening

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.

Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?

KRAS mutation spectrum notably diverges between non-small cell lung and colorectal carcinomas

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

Leiden Open Variation Database of the MUTYH gene

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

Mastocytose cutanée maculopapuleuse métamérique

Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for hMSH6 [correction of hMLH6] immunostaining

Mitochondrial D310 mutations in colorectal adenomas: An early but not causative genetic event during colorectal carcinogenesis

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Molecular patterns in deficient mismatch repair colorectal tumours: results from a French prospective multicentric biological and genetic study

Mucinous colon carcinomas with microsatellite instability have a lower microvessel density and lower vascular endothelial growth factor expression.

Multicenter study of ZAP-70 expression in patients with B-cell chronic lymphocytic leukemia using an optimized flow cytometry method.

Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

New types of MYST3-CBP and CBP-MYST3 fusion transcripts in t(8;16)(p11;p13) acute myeloid leukemias

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

PIK3CA mutations predict recurrence in localized microsatellite stable colon cancer

Pan Aurora Kinase Inhibitor: A Promising Targeted-Therapy in Dedifferentiated Liposarcomas With Differential Efficiency Depending on Sarcoma Molecular Profile

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Prédispositions héréditaires au cancer colorectal

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome