List of works - Barbara Pasini

A comparison of bilateral breast cancers in BRCA carriers

scientific article published in June 2005

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants

scientific article published on 13 November 2018

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

scientific article

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas

scientific article published in 2024

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin ⬇️

scientific article published on July 11, 2012

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Atypical Epithelial Proliferation in Fallopian Tubes in Prophylactic Salpingo-oophorectomy Specimens from BRCA1 and BRCA2 Germline Mutation Carriers

scientific article published in January 2004

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

scientific article

Clinical genetic testing for familial melanoma in Italy: A cooperative study

article

Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors

publication published on 08 March 2022

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

article

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Familial gastrointestinal stromal tumors and germ-line mutations.

scientific article

Full activation of MEN2B mutant RET by an additional MEN2A mutation or by ligand GDNF stimulation ⬇️

scientific article published on May 7, 1998

Hereditary Paragangliomas ⬇️

scientific article published on February 24, 2011

Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature

scientific article published on October 2006

Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study

scientific article published on 29 May 2008

Liddle Syndrome: Review of the Literature and Description of a New Case

scientific article published on 11 March 2018

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

scientific article

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

scientific article published on 4 February 2006

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Rapid progression of prostate cancer in men with a BRCA2 mutation

scientific article published on 24 June 2008

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Search for Germline Mutations by DGGE in Italian von Hippel-Lindau Patients ⬇️

scientific article published on 01 January 2001

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

scientific article published on 14 December 2011

TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk.

scientific article published on 30 March 2019

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

scientific article published on 22 July 2010

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

List of works by Barbara Pasini

A comparison of bilateral breast cancers in BRCA carriers

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin ⬇️

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Atypical Epithelial Proliferation in Fallopian Tubes in Prophylactic Salpingo-oophorectomy Specimens from BRCA1 and BRCA2 Germline Mutation Carriers

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Clinical genetic testing for familial melanoma in Italy: A cooperative study

Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

Exploring the link between MORF4L1 and risk of breast cancer

Familial gastrointestinal stromal tumors and germ-line mutations.

Full activation of MEN2B mutant RET by an additional MEN2A mutation or by ligand GDNF stimulation ⬇️

Hereditary Paragangliomas ⬇️

Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature

Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study

Liddle Syndrome: Review of the Literature and Description of a New Case

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Rapid progression of prostate cancer in men with a BRCA2 mutation

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Search for Germline Mutations by DGGE in Italian von Hippel-Lindau Patients ⬇️

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk.

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries