List of works - Barbara Rivera

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

scientific article published on 25 September 2015

A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia

scientific article published on 10 July 2013

Age at onset should be a major criterion for subclassification of colorectal cancer.

scientific article

Approach to early-onset colorectal cancer: clinicopathological, familial, molecular and immunohistochemical characteristics

scientific article

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

article

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study

scientific article published on 5 October 2010

Colorectal Adenomas.

scientific article

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

scientific article published on 01 March 2020

Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 19 November 2019

Expanding the morphological spectrum of ovarian microcystic stromal tumour

article

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

scientific article published on 23 June 2017

Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.

scientific article published on 9 November 2014

Germline RECQL mutations are associated with breast cancer susceptibility

scientific article published on 27 April 2015

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

scientific article published on 26 February 2016

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

scientific article published on 23 March 2014

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

scientific article published on 16 October 2015

Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 08 August 2019

LG-26GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.

scientific article published on 30 May 2016

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

scientific article published on 24 August 2018

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

scientific article published on 9 January 2018

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

Not so benign

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

scientific article published on 20 November 2018

Ovarian Microcystic Stromal Tumors Are Characterized by Alterations in the Beta-Catenin-APC Pathway and May be an Extracolonic Manifestation of Familial Adenomatous Polyposis

scientific article published on 26 October 2017

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

scientific article published on 28 February 2020

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8

scientific article published on 02 March 2020

Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations

scientific article published on 14 January 2020

Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

scientific article published on 26 June 2018

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

scientific article published on 18 May 2017

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

scientific article published in Nature Communications

List of works by Barbara Rivera

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia

Age at onset should be a major criterion for subclassification of colorectal cancer.

Approach to early-onset colorectal cancer: clinicopathological, familial, molecular and immunohistochemical characteristics

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study

Colorectal Adenomas.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

Expanding the morphological spectrum of ovarian microcystic stromal tumour

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.

Germline RECQL mutations are associated with breast cancer susceptibility

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Homologous recombination DNA repair defects in PALB2-associated breast cancers

LG-26GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

Not so benign

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

Ovarian Microcystic Stromal Tumors Are Characterized by Alterations in the Beta-Catenin-APC Pathway and May be an Extracolonic Manifestation of Familial Adenomatous Polyposis

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8

Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations

Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw