Research Topics

Genomes and Genes


Siranoush Manoukian


Affiliation: Istituto Nazionale Tumori
Country: Italy


  1. Gelli E, Colombo M, Pinto A, De Vecchi G, Foglia C, Amitrano S, et al. Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance. Cancers (Basel). 2019;11: pubmed publisher
    ..This indicates the need for applying additional approaches for the analysis of variants resistant to classification by gene transcript analyses. ..
  2. Caleca L, Colombo M, van Overeem Hansen T, Lazaro C, Manoukian S, Parsons M, et al. GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes. Cancers (Basel). 2019;11: pubmed publisher
  3. Azzollini J, Pesenti C, Pizzamiglio S, Fontana L, Guarino C, Peissel B, et al. Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer. Cancers (Basel). 2019;11: pubmed publisher
    ..Further studies are required to define the impact of methylation changes occurring at BC-predisposing genes and their role in tumorigenesis. ..
  4. Pasanisi P, Bruno E, Venturelli E, Morelli D, Oliverio A, Baldassari I, et al. A Dietary Intervention to Lower Serum Levels of IGF-I in BRCA Mutation Carriers. Cancers (Basel). 2018;10: pubmed publisher
    ..04). Women in the intervention group showed significant improvements in IGF-I and in other IRm that might influence the penetrance of BRCA mutations. ..
  5. Pirie A, Guo Q, Kraft P, Canisius S, Eccles D, Rahman N, et al. Common germline polymorphisms associated with breast cancer-specific survival. Breast Cancer Res. 2015;17:58 pubmed publisher
    ..Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels. ..
  6. Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, et al. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015;17:61 pubmed publisher
    ..This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. ..
  7. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  8. Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, et al. Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. Eur J Intern Med. 2016;32:65-71 pubmed publisher
    ..Such differences should be taken into account in the identification of patients who might benefit from genetic counselling and subsequent testing. ..