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Article: Molecular Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 Isolates From Central Inner Sardinia.

Malune, Paolo / Piras, Giovanna / Monne, Maria / Fiamma, Maura / Asproni, Rosanna / Fancello, Tatiana / Manai, Antonio / Carta, Franco / Pira, Giovanna / Fancello, Patrizia / Rosu, Valentina / Uras, Antonella / Mereu, Caterina / Mameli, Giuseppe / Lo Maglio, Iana / Garau, Maria Cristina / Palmas, Angelo Domenico

Frontiers in microbiology

2022 Volume 12, Page(s) 827799

Abstract: Background: The SARS-CoV-2 pandemic stimulated an outstanding global sequencing effort, which allowed to monitor viral circulation and evolution. Nuoro province (Sardinia, Italy), characterized by a relatively isolated geographical location and a low ... ...

Abstract	Background: The SARS-CoV-2 pandemic stimulated an outstanding global sequencing effort, which allowed to monitor viral circulation and evolution. Nuoro province (Sardinia, Italy), characterized by a relatively isolated geographical location and a low population density, was severely hit and displayed a high incidence of infection. Methods: Amplicon approach Next Generation Sequencing and subsequent variant calling in 92 respiratory samples from SARS-CoV-2 infected patients involved in infection clusters from March 2020 to May 2021. Results: Phylogenetic analysis displayed a coherent distribution of sequences in terms of lineage and temporal evolution of pandemic. Circulating lineage/clade characterization highlighted a growing diversity over time, with an increasingly growing number of mutations and variability of spike and nucleocapsid proteins, while viral RdRp appeared to be more conserved. A total of 384 different mutations were detected, of which 196 were missense and 147 synonymous ones. Mapping mutations along the viral genome showed an irregular distribution in key genes. Conclusion: The analysis of the 92 viral genome highlighted evolution over time and identified which mutations are more widespread than others. The high number of sequences also permits the identification of subclusters that are characterized by subtle differences, not only in terms of lineage, which may be used to reconstruct transmission clusters. The disclosure of viral genetic diversity and timely identification of new variants is a useful tool to guide public health intervention measures.
Language	English
Publishing date	2022-01-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2587354-4
ISSN	1664-302X
ISSN	1664-302X
DOI	10.3389/fmicb.2021.827799
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Identification of a founder BRCA2 mutation in Sardinian breast cancer families.

Monne, Maria / Piras, Giovanna / Fancello, Patrizia / Santona, Maria Cristina / Uras, Antonella / Landriscina, Gennaro / Mastio, Giuseppe / Gabbas, Attilio

Familial cancer

2007 Volume 6, Issue 1, Page(s) 73–79

Abstract: The population of Sardinia is characterized by a relatively low level of genetic heterogeneity: therefore 'founder mutations' can be expected to be found. We analysed 17 probands from families with high incidence of breast cancer or breast and ovarian ... ...

Abstract	The population of Sardinia is characterized by a relatively low level of genetic heterogeneity: therefore 'founder mutations' can be expected to be found. We analysed 17 probands from families with high incidence of breast cancer or breast and ovarian cancer by sequencing the full-length coding regions of BRCA1 and BRCA2 genes. A novel BRCA2 frame-shift mutation, 3951del3insAT, which produces a protein truncated at codon 1258, was observed in six patients with BC from the same village. The mutation was not found in unaffected females (matched on basis of ethnicity and age) with no family history of cancer. Haplotype analysis strongly suggests that all affected persons had a common ancestor. The identification of this clinically significant founder mutation may facilitate screening/testing for inherited risk of breast cancer.
MeSH term(s)	Adult ; Aged ; BRCA2 Protein ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Breast Neoplasms, Male/epidemiology ; Breast Neoplasms, Male/genetics ; Female ; Founder Effect ; Frameshift Mutation ; Genes, BRCA1 ; Genes, BRCA2 ; Haplotypes/genetics ; Humans ; Italy/epidemiology ; Male ; Middle Aged ; Mutation, Missense ; Neoplasms, Second Primary/genetics ; Neoplastic Syndromes, Hereditary/epidemiology ; Neoplastic Syndromes, Hereditary/genetics ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Pedigree ; Sequence Deletion
Chemical Substances	BRCA2 Protein
Language	English
Publishing date	2007
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1502496-9
ISSN	1389-9600
ISSN	1389-9600
DOI	10.1007/s10689-006-9107-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population

BMC Cancer, Vol 9, Iss 1, p

2009 Volume 245

Abstract: Abstract Background In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in ... ...

Abstract	Abstract Background In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated. Methods Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for BRCA1-2 mutations by DHPLC analysis and DNA sequencing. Association of BRCA1 and BRCA2 mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test. Results and Conclusion Overall, 8 BRCA1 and 5 BRCA2 deleterious mutations were detected in 35/348 (10%) families; majority (23/35;66%) of mutations was found in BRCA2 gene. The geographical distribution of BRCA1-2 mutations was related to three specific large areas of Sardinia, reflecting its ancient history: a ) the Northern area, linguistically different from the rest of the island (where a BRCA2 c.8764_8765delAG mutation with founder effect was predominant); b ) the Middle area, land of the ancient Sardinian population (where BRCA2 mutations are still more common than BRCA1 mutations); and c ) the South-Western area, with many Phoenician and Carthaginian locations (where BRCA1 mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of BRCA1-2 germline mutations.
Keywords	Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Oncology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Subject code	616
Language	English
Publishing date	2009-07-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

BMC cancer

2009 Volume 9, Page(s) 245

Abstract: Background: In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the ... ...

Abstract	Background: In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated. Methods: Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for BRCA1-2 mutations by DHPLC analysis and DNA sequencing. Association of BRCA1 and BRCA2 mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test. Results and conclusion: Overall, 8 BRCA1 and 5 BRCA2 deleterious mutations were detected in 35/348 (10%) families; majority (23/35;66%) of mutations was found in BRCA2 gene. The geographical distribution of BRCA1-2 mutations was related to three specific large areas of Sardinia, reflecting its ancient history: a) the Northern area, linguistically different from the rest of the island (where a BRCA2 c.8764_8765delAG mutation with founder effect was predominant); b) the Middle area, land of the ancient Sardinian population (where BRCA2 mutations are still more common than BRCA1 mutations); and c) the South-Western area, with many Phoenician and Carthaginian locations (where BRCA1 mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of BRCA1-2 germline mutations.
MeSH term(s)	Aged ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Cohort Studies ; Family Health ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Italy ; Middle Aged ; Mutation ; Ovarian Neoplasms/genetics ; Recurrence
Language	English
Publishing date	2009-07-20
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1471-2407
ISSN (online)	1471-2407
DOI	10.1186/1471-2407-9-245
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Molecular Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 Isolates From Central Inner Sardinia.

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Article: Identification of a founder BRCA2 mutation in Sardinian breast cancer families.

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Article ; Online: A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population

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Inter-library loan at ZB MED

Article ; Online: A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

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Inter-library loan at ZB MED