LIVIVO - Search results -

Search results

Result 1 - 10 of total 112

Search options

Article: Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature.

Villa, Roberta / Azzollini, Jacopo / Peissel, Bernard / Manoukian, Siranoush

2019 Volume 28, Page(s) 68–70

Abstract: Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder of yet unknown etiology, characterized by agenesis/hypoplasia of the müllerian duct system. The occurrence of ovarian cancer (OC) in MRKHS is rare, with <20 cases ... ...

Abstract	Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder of yet unknown etiology, characterized by agenesis/hypoplasia of the müllerian duct system. The occurrence of ovarian cancer (OC) in MRKHS is rare, with <20 cases reported to date. Case: A woman affected with MRKHS, developed an abdominal mass at the age of 33 years. Surgical examination revealed a blind vagina, small rudimentary uterus, two fully developed tubes and large bilateral ovarian tumors. The histological diagnosis was a low-grade serous carcinoma (LGSOC) of both ovaries, staged IIB. The patient showed a normal female karyotype and resulted negative at the BRCA1/2 genetic testing. Conclusion: This is the first report of a LGSOC in a patient with MRKHS. Although the identification of familial cases with both MRKHS and OC raised the hypothesis of a common genetic origin, further data and reports of additional cases are needed in order to assess a possible association of the two conditions.
Language	English
Publishing date	2019-03-17
Publishing country	Netherlands
Document type	Case Reports
ZDB-ID	2818505-5
ISSN	2352-5789
ISSN	2352-5789
DOI	10.1016/j.gore.2019.03.010
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Article ; Online: Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma.

Azzollini, Jacopo / Agnelli, Luca / Conca, Elena / Torelli, Tommaso / Busico, Adele / Capone, Iolanda / Angelini, Marta / Tamborini, Elena / Perrone, Federica / Vingiani, Andrea / Lorenzini, Daniele / Peissel, Bernard / Pruneri, Giancarlo / Manoukian, Siranoush

Scientific reports

2023 Volume 13, Issue 1, Page(s) 7781

Abstract: Tumour DNA sequencing is essential for precision medicine since it guides therapeutic decisions but also fosters the identification of patients who may benefit from germline testing. Notwithstanding, the tumour-to-germline testing workflow presents a few ...

Abstract	Tumour DNA sequencing is essential for precision medicine since it guides therapeutic decisions but also fosters the identification of patients who may benefit from germline testing. Notwithstanding, the tumour-to-germline testing workflow presents a few caveats. The low sensitivity for indels at loci with sequences of identical bases (homopolymers) of ion semiconductor-based sequencing techniques represents a well-known limitation, but the prevalence of indels overlooked by these techniques in high-risk populations has not been investigated. In our study, we addressed this issue at the homopolymeric regions of BRCA1/2 in a retrospectively selected cohort of 157 patients affected with high-grade ovarian cancer and negative at tumour testing by ION Torrent sequencing. Variant allele frequency (VAF) of indels at each of the 29 investigated homopolymers was systematically revised with the IGV software. Thresholds to discriminate putative germline variants were defined by scaling the VAF to a normal distribution and calculating the outliers that exceeded the mean + 3 median-adjusted deviations of a control population. Sanger sequencing of the outliers confirmed the occurrence of only one of the five putative indels in both tumour and blood from a patient with a family history of breast cancer. Our results indicated that the prevalence of homopolymeric indels overlooked by ion semiconductor techniques is seemingly low. A careful evaluation of clinical and family history data would further help minimise this technique-bound limitation, highlighting cases in which a deeper look at these regions would be recommended.
MeSH term(s)	Female ; Humans ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Retrospective Studies ; Prevalence ; Workflow ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Carcinoma, Ovarian Epithelial ; Germ-Line Mutation
Chemical Substances	BRCA1 protein, human ; BRCA1 Protein ; BRCA2 protein, human ; BRCA2 Protein
Language	English
Publishing date	2023-05-13
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-023-33857-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.

Azzollini, Jacopo / Mariani, Milena / Peissel, Bernard / Manoukian, Siranoush

Familial cancer

2017 Volume 17, Issue 3, Page(s) 317–319

MeSH term(s)	Breast ; Breast Neoplasms ; Humans ; Tumor Suppressor Protein p53
Chemical Substances	TP53 protein, human ; Tumor Suppressor Protein p53
Language	English
Publishing date	2017-07-04
Publishing country	Netherlands
Document type	Letter ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	1502496-9
ISSN	1573-7292 ; 1389-9600
ISSN (online)	1573-7292
ISSN	1389-9600
DOI	10.1007/s10689-017-0020-z
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 6099: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.

Milani, Donatella / Dolci, Alessia / Muller, Ilaria / Pavesi, Maria Angela / Runza, Letterio / Kuhn, Elisabetta / Natacci, Federica / Peissel, Bernard / Ricci, Maria Teresa / Despini, Luca / Tomasello, Gianluca / Grossi, Francesco / Garrone, Ornella / Gambini, Donatella

Endocrine

2023 Volume 81, Issue 1, Page(s) 98–106

Abstract: Purpose: PTEN hamartoma tumor syndrome (PHTS) comprises a group of rare genetic conditions caused by germline mutations in PTEN gene and characterized by development of both benign and malignant lesions in many body tissues. In this study, we aimed to ... ...

Abstract	Purpose: PTEN hamartoma tumor syndrome (PHTS) comprises a group of rare genetic conditions caused by germline mutations in PTEN gene and characterized by development of both benign and malignant lesions in many body tissues. In this study, we aimed to evaluate the incidence of thyroid findings in both adult and pediatric PHTS patients. Methods: A retrospectively analysis conducted in 19 (13 adult and 6 pediatric) patients with PHTS, all confirmed with genetic testing, observed from 2015 to 2021 at the Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Results: We found a thyroid involvement in 12 adult patients (92%): 11 patients had benign lesions (85%) and the remaining developed a follicular thyroid carcinoma (8.3%). The median age at time of the first available record was 30 years. Among benign lesions, multinodular goiter was the most observed finding (10/11, 91%). Only 1 out of 6 (16%) pediatric patients was diagnosed with a thyroid lesion (unifocal lesion in mild lymphocytic thyroiditis) at the age of 8 years. Conclusions: Thyroid disorders affected nearly all adult PHTS patients, but a much lower proportion of pediatric patients. We discuss about the natural history of thyroid involvement, age of PHTS clinical onset, and optimized surveillance.
MeSH term(s)	Humans ; Child ; Adult ; Hamartoma Syndrome, Multiple/genetics ; Retrospective Studies ; Thyroid Diseases/complications ; Thyroid Diseases/epidemiology ; Thyroid Diseases/genetics ; Thyroid Neoplasms/epidemiology ; Thyroid Neoplasms/genetics ; PTEN Phosphohydrolase/genetics
Chemical Substances	PTEN protein, human (EC 3.1.3.67) ; PTEN Phosphohydrolase (EC 3.1.3.67)
Language	English
Publishing date	2023-01-23
Publishing country	United States
Document type	Review ; Journal Article
ZDB-ID	1194484-5
ISSN	1559-0100 ; 1355-008X ; 0969-711X
ISSN (online)	1559-0100
ISSN	1355-008X ; 0969-711X
DOI	10.1007/s12020-023-03313-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3884: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Risk-reducing surgery in BRCA1/BRCA2 mutation carriers: Are there factors associated with the choice?

Manoukian, Siranoush / Alfieri, Sara / Bianchi, Elisabetta / Peissel, Bernard / Azzollini, Jacopo / Borreani, Claudia

Psycho-oncology

2019 Volume 28, Issue 9, Page(s) 1871–1878

Abstract: Objective: Female carriers of BRCA1/BRCA2 mutations (BRCAm) are at increased risk of developing breast and ovarian cancer. The main prevention options currently available consist in either clinical-radiological surveillance or risk-reducing surgery. ... ...

Abstract	Objective: Female carriers of BRCA1/BRCA2 mutations (BRCAm) are at increased risk of developing breast and ovarian cancer. The main prevention options currently available consist in either clinical-radiological surveillance or risk-reducing surgery. This study investigated factors that might influence the choice of risk-reducing mastectomy (RRM) and/or salpingo-oophorectomy (RRSO) over surveillance in high-risk women. Methods: One hundred twenty-eight BRCAm women, 75 (58.60%) cancer affected (C-A) and 53 (41.40%) cancer-unaffected (C-UN), completed a baseline questionnaire concerning socio-demographic factors, personal medical history, cancer family history, and psychological dimensions. Preferences about prevention strategies were evaluated after 15 months. Multivariate logistic regression was used to analyse the relationship between these factors and the choice of RRSO or RRM in the whole cohort and the choice of surgery (RRM and/or RRSO) in C-A and C-UN women. Results: The analyses on the whole cohort highlighted factors associated with the choice of both RRM and RRSO ("cancer concern," "previous therapeutic mastectomy," and "number of cancer-affected family members"), but also a few specifically associated with either RRM (age) or RRSO ("health" and "energy" perception and "number of children"). Surgery was more likely to be chosen by C-A (76%) than C-UN women (34%). With the exception of "cancer concern," factors associated with the choice of surgery were different between C-A ("number of deaths for cancer in the family" and "feeling downhearted and blue") and C-UN ("number of children" and "health perception") women. Conclusion: This study highlights potential drivers underlying the choice of preventive surgery, which should be considered when supporting the decision-making process in these women.
MeSH term(s)	Adult ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/genetics ; Breast Neoplasms/surgery ; Choice Behavior ; Cohort Studies ; Female ; Heterozygote ; Humans ; Mastectomy/psychology ; Middle Aged ; Mutation ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/surgery ; Risk Reduction Behavior ; Salpingectomy/psychology ; Surveys and Questionnaires ; Watchful Waiting
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
Language	English
Publishing date	2019-07-11
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1118536-3
ISSN	1099-1611 ; 1057-9249
ISSN (online)	1099-1611
ISSN	1057-9249
DOI	10.1002/pon.5166
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3550: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to

Oliverio, Andreina / Radice, Paolo / Colombo, Mara / Paradiso, Angelo / Tommasi, Stefania / Daniele, Antonella / Terribile, Daniela Andreina / Magno, Stefano / Guarino, Donatella / Manoukian, Siranoush / Peissel, Bernard / Bruno, Eleonora / Pasanisi, Patrizia

Frontiers in genetics

2022 Volume 13, Page(s) 820878

Abstract: The female carriers ... ...

Abstract	The female carriers of
Language	English
Publishing date	2022-03-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2022.820878
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Analysis of

Tabano, Silvia / Azzollini, Jacopo / Pesenti, Chiara / Lovati, Sara / Costanza, Jole / Fontana, Laura / Peissel, Bernard / Miozzo, Monica / Manoukian, Siranoush

Cancers

2020 Volume 12, Issue 4

Abstract: Previous studies on breast and ovarian carcinoma (BC and OC) revealed ... ...

Abstract	Previous studies on breast and ovarian carcinoma (BC and OC) revealed constitutional
Language	English
Publishing date	2020-04-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers12040910
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients

Vergani, Elisabetta / Frigerio, Simona / Dugo, Matteo / Devecchi, Andrea / Feltrin, Erika / De Cecco, Loris / Vallacchi, Viviana / Cossa, Mara / Di Guardo, Lorenza / Manoukian, Siranoush / Peissel, Bernard / Ferrari, Andrea / Gallino, Gianfrancesco / Maurichi, Andrea / Rivoltini, Licia / Sensi, Marialuisa / Rodolfo, Monica

Genes. 2021 Sept. 18, v. 12, no. 9

2021

Abstract: The MITF-E318K variant has been implicated in genetic predisposition to cutaneous melanoma. We addressed the occurrence of MITF-E318K and its association with germline status of CDKN2A and MC1R genes in a hospital-based series of 248 melanoma patients ... ...

Abstract	The MITF-E318K variant has been implicated in genetic predisposition to cutaneous melanoma. We addressed the occurrence of MITF-E318K and its association with germline status of CDKN2A and MC1R genes in a hospital-based series of 248 melanoma patients including cohorts of multiple, familial, pediatric, sporadic and melanoma associated with other tumors. Seven MITF-E318K carriers were identified, spanning every group except the pediatric patients. Three carriers showed mutated CDKN2A, five displayed MC1R variants, while the sporadic carrier revealed no variants. Germline/tumor whole exome sequencing for this carrier revealed germline variants of unknown significance in ATM and FANCI genes and, in four BRAF-V600E metastases, somatic loss of the MITF wild-type allele, amplification of MITF-E318K and deletion of a 9p21.3 chromosomal region including CDKN2A and MTAP. In silico analysis of tumors from MITF-E318K melanoma carriers in the TCGA Pan-Cancer-Atlas dataset confirmed the association with BRAF mutation and 9p21.3 deletion revealing a common genetic pattern. MTAP was the gene deleted at homozygous level in the highest number of patients. These results support the utility of both germline and tumor genome analysis to define tumor groups providing enhanced information for clinical strategies and highlight the importance of melanoma prevention programs for MITF-E318K patients.
Keywords	alleles ; computer simulation ; data collection ; genetic predisposition to disease ; germ cells ; homozygosity ; melanoma ; mutation ; sequence analysis
Language	English
Dates of publication	2021-0918
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12091440
Database	NAL-Catalogue (AGRICOLA)

Order via subito

Article: Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition.

Ripamonti, Carla B / Manoukian, Siranoush / Peissel, Bernard / Azzollini, Jacopo / Carcangiu, Maria Luisa / Radice, Paolo

Cancer genetics

2017 Volume 221, Page(s) 38–45

Abstract: Carcinosarcomas (CSs) are biphasic neoplasms composed of high grade, malignant, epithelial and mesenchymal elements. The incidence of gynecological CSs (GCSs) is 0.4/100,000 women per year. Patients affected with GCSs have been occasionally reported in ... ...

Abstract	Carcinosarcomas (CSs) are biphasic neoplasms composed of high grade, malignant, epithelial and mesenchymal elements. The incidence of gynecological CSs (GCSs) is 0.4/100,000 women per year. Patients affected with GCSs have been occasionally reported in Hereditary Breast Ovarian Cancer (HBOC) families, including a few cases with pathogenic variants in BRCA1/BRCA2 genes. The prevalence and the association of GCSs in HBOC families have not been systematically investigated. Thus, we searched for families with GCSs in the HBOC registry of the National Cancer Institute of Milan. Eleven families, including four BRCA1-positive and four BRCA2-positive, presented a case of GCS. In the three BRCA1-mutated patients for whom surgical specimens were available, DNA fragment and sequencing analyses revealed the loss of the constitutionally wild-type BRCA1 allele. All tumors presented also TP53 mutations and stained positive for the expression of the protein product by immunohistochemistry. Our results suggest that GCSs may be found not infrequently in HBOC families and assimilate the analyzed CSs to BRCA1-related breast/ovarian carcinomas, where the above findings are frequently observed. Exploring the role of BRCA genes in prospective unselected series of GCSs might improve the knowledge of the genesis of these malignancies and guide the proposition of prophylactic surgery and targeted therapy.
MeSH term(s)	Aged ; Aged, 80 and over ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Genital Neoplasms, Female/genetics ; Genital Neoplasms, Female/pathology ; Germ-Line Mutation ; Humans ; Middle Aged ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Surveys and Questionnaires
Language	English
Publishing date	2017-12-29
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2599227-2
ISSN	2210-7762
ISSN	2210-7762
DOI	10.1016/j.cancergen.2017.12.001
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1521: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.

Oliverio, Andreina / Bruno, Eleonora / Colombo, Mara / Paradiso, Angelo / Tommasi, Stefania / Daniele, Antonella / Terribile, Daniela Andreina / Magno, Stefano / Guarino, Donatella / Manoukian, Siranoush / Peissel, Bernard / Radice, Paolo / Pasanisi, Patrizia

Cancers

2020 Volume 12, Issue 12

Abstract: Women carriers of pathogenic variants (mutations) in ... ...

Abstract	Women carriers of pathogenic variants (mutations) in the
Language	English
Publishing date	2020-11-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers12123584
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

To top

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito