For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
32
views
Article has an altmetric score of 12
69
references
 Top references
cited by
17
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      225
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          PURPOSE

          The objective of this review was to address the barriers limiting access to genetic cancer risk assessment and genetic testing for individuals with suspected hereditary breast and ovarian cancer (HBOC) through a review of the diagnosis and management steps of HBOC.

          METHODS

          A selected panel of Brazilian experts in fields related to HBOC was provided with a series of relevant questions to address before the multiday conference. During this conference, each narrative was discussed and edited by the entire group, through numerous drafts and rounds of discussion, until a consensus was achieved.

          RESULTS

          The authors propose specific and realistic recommendations for improving access to early diagnosis, risk management, and cancer care of HBOC specific to Brazil. Moreover, in creating these recommendations, the authors strived to address all the barriers and impediments mentioned in this article.

          CONCLUSION

          There is a great need to expand hereditary cancer testing and counseling in Brazil, and changing current policies is essential to accomplishing this goal. Increased knowledge and awareness, together with regulatory actions to increase access to this technology, have the potential to improve patient care and prevention and treatment efforts for patients with cancer across the country.

          Related collections

          Most cited references69

          • Record: found
          • Abstract: found
          • Article: not found

          The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer.

          Magali Olivier, Anita Langerød, Patrizia Carrieri … (2006)
          To investigate the clinical value of somatic TP53 mutations in breast cancer, we assembled clinical and molecular data on 1,794 women with primary breast cancer with long-term follow-up and whose tumor has been screened for mutation in exons 5 to 8 of TP53 by gene sequencing. TP53 mutations were more frequent in tumors of ductal and medullar types, aggressive phenotype (high grade, large size, node positive cases, and low hormone receptor content) and in women 10 years; P < 0.0001) compared with patients with no such mutation. The prognostic value of TP53 mutation was independent of tumor size, node status, and hormone receptor content, confirming and reconciling previous findings in smaller series. Moreover, an interaction between TP53 mutation and progesterone receptor (PR) status was revealed, TP53 mutation combined with the absence of progesterone receptor being associated with the worst prognosis. Whereas previous studies have emphasized the fact that missense mutations in the DNA-binding motifs have a worse prognosis than missense mutations outside these motifs, we show that non-missense mutations have prognostic value similar to missense mutations in DNA-binding motifs. Nonetheless, specific missense mutants (codon 179 and R248W) seem to be associated with an even worse prognosis. These results, obtained on the largest series analyzed thus far, show that TP53 mutations identified by gene sequencing have an independent prognostic value in breast cancer and could have potential uses in clinical practice.
          Article 0 comments Cited 203 times – based on 0 reviews     Review now
          Article has an altmetric score of 6
            Bookmark
            • Record: found
            • Abstract: found
            • Article: found
            Is Open Access

            The Genomic Ancestry of Individuals from Different Geographical Regions of Brazil Is More Uniform Than Expected

            Sérgio D. J. Pena, Giuliano Di Pietro, Mateus Fuchshuber-Moraes … (2011)
            Based on pre-DNA racial/color methodology, clinical and pharmacological trials have traditionally considered the different geographical regions of Brazil as being very heterogeneous. We wished to ascertain how such diversity of regional color categories correlated with ancestry. Using a panel of 40 validated ancestry-informative insertion-deletion DNA polymorphisms we estimated individually the European, African and Amerindian ancestry components of 934 self-categorized White, Brown or Black Brazilians from the four most populous regions of the Country. We unraveled great ancestral diversity between and within the different regions. Especially, color categories in the northern part of Brazil diverged significantly in their ancestry proportions from their counterparts in the southern part of the Country, indicating that diverse regional semantics were being used in the self-classification as White, Brown or Black. To circumvent these regional subjective differences in color perception, we estimated the general ancestry proportions of each of the four regions in a form independent of color considerations. For that, we multiplied the proportions of a given ancestry in a given color category by the official census information about the proportion of that color category in the specific region, to arrive at a “total ancestry” estimate. Once such a calculation was performed, there emerged a much higher level of uniformity than previously expected. In all regions studied, the European ancestry was predominant, with proportions ranging from 60.6% in the Northeast to 77.7% in the South. We propose that the immigration of six million Europeans to Brazil in the 19th and 20th centuries - a phenomenon described and intended as the “whitening of Brazil” - is in large part responsible for dissipating previous ancestry dissimilarities that reflected region-specific population histories. These findings, of both clinical and sociological importance for Brazil, should also be relevant to other countries with ancestrally admixed populations.
            Article 0 comments Cited 201 times – based on 0 reviews     Review now
            Article has an altmetric score of 98
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

              Harvey A. Risch, John R. McLaughlin, David E C Cole … (2006)
              BRCA1 and BRCA2 mutations in general populations and in various types of cancers have not been well characterized. We investigated the presence of these mutations in unselected patients with newly diagnosed incident ovarian cancer in Ontario, Canada, with respect to cancers reported among their relatives. A population series of 1171 unselected patients with incident ovarian cancer diagnosed between January 1, 1995, and December 31, 1999, in Ontario, Canada, was screened for germline mutations throughout the BRCA1 and BRCA2 genes. Screening involved testing for common variants, then protein truncation testing of long exons, and then denaturing gradient gel electrophoresis or denaturing high-performance liquid chromatography for the remainder of BRCA1 and BRCA2, respectively. Cox regression analysis was used to examine cancer outcomes reported by the case probands for their 8680 first-degree relatives. Population allele frequencies and relative risks (RRs) were derived from the regression results by an extension of Saunders-Begg methods. Age-specific Ontario cancer incidence rates were used to estimate cumulative incidence of cancer to age 80 years by mutation status. Among 977 patients with invasive ovarian cancer, 75 had BRCA1 mutations and 54 had BRCA2 mutations, for a total mutation frequency of 13.2% (95% confidence interval [CI] = 11.2% to 15.5%). Higher risks for various cancer types in the general Ontario population were associated with BRCA1 mutation carriage than with noncarriage, including ovarian (RR = 21, 95% CI = 12 to 36), female breast (RR = 11, 95% CI = 7.5 to 15), and testis (RR = 17, 95% CI = 1.3 to 230) cancers. Higher risks were also associated with BRCA2 mutation carriage than with noncarriage, particularly for ovarian (RR = 7.0, 95% CI = 3.1 to 16), female and male breast (RR = 4.6, 95% CI = 2.7 to 7.8, and RR = 102, 95% CI = 9.9 to 1050, respectively), and pancreatic (RR = 6.6, 95% CI = 1.9 to 23) cancers. Cancer risks differed according to the mutation's position in the gene. Estimated cumulative incidence to age 80 years among women carrying BRCA1 mutations was 24% for ovarian cancer and 90% for breast cancer and among women carrying BRCA2 mutations was 8.4% for ovarian cancer and 41% for breast cancer. For the general Ontario population, estimated carrier frequencies of BRCA1 and BRCA2 mutations, respectively, were 0.32% (95% CI = 0.23% to 0.45%) and 0.69% (95% CI = 0.43% to 1.10%). BRCA1 and BRCA2 mutations may be more frequent in general populations than previously thought and may be associated with various types of cancers.
              Article 0 comments Cited 178 times – based on 0 reviews     Review now
              Article has an altmetric score of 82
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): JCO Glob Oncol
                Journal ID (iso-abbrev): JCO Glob Oncol
                Journal ID (hwp): go
                Journal ID (pmc): go
                Journal ID (publisher-id): GO
                Title: JCO Global Oncology
                Publisher: American Society of Clinical Oncology
                ISSN (Electronic): 2687-8941
                Publication date Collection: 2020
                Publication date (Electronic): 10 March 2020
                Volume: 6
                Electronic Location Identifier: JGO.19.00170
                Affiliations
                [ 1 ]Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, Brazil
                [ 2 ]Nucleo Mama Porto Alegre and Associação Hospitalar Moinhos de Vento, Porto Alegre, Brazil
                [ 3 ]Oncologia D’or, Rede D’or São Luiz, Brazil
                [ 4 ]Centro de Investigação Translacional em Oncologia, Instituto do Cancer do Estado de Sao Paulo, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Brazil
                [ 5 ]Programa da Saúde da Mulher, Hospital Israelita Albert Einstein, São Paulo, Brazil
                [ 6 ]Centro de Oncologia e Hematologia, Hospital Israelita Albert Einstein, São Paulo, Brazil
                [ 7 ]Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
                [ 8 ]Grupo Brasileiro de Oncologia Ginecológica, Belo Horizonte, Brazil
                [ 9 ]DOM Oncologia, Minas Gerais, Brazil
                [ 10 ]Departmento de Genética, Universidade Federal do Rio Grande do Sul
                [ 11 ]Laboratório de Medicina Genômica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
                Author notes
                Maria Isabel Achatz, MD, PhD, Rua Dona Adma Jafet 115, São Paulo, SP Brazil, 01308-060; Twitter: @AchatzIsabel; e-mail: miachatz@ 123456gmail.com .
                Article
                Publisher ID: 1900170
                DOI: 10.1200/JGO.19.00170
                PMC ID: 7113069
                PubMed ID: 32155091
                SO-VID: bb48b024-57df-4cfa-b4e1-d06033a15155
                Copyright © © 2020 by American Society of Clinical Oncology
                License:

                Creative Commons Attribution Non-Commercial No Derivatives 4.0 License: https://creativecommons.org/licenses/by-nc-nd/4.0/

                History
                Date accepted : 21 January 2020
                Page count
                Figures: 0, Tables: 5, Equations: 0, References: 92, Pages: 14
                Categories
                Compound subject: 00, CLINICAL GUIDELINES
                Subject: Special Articles
                Custom metadata
                SJS Export v1

                Data availability:

                Comments

                Comment on this article

                scite_
                0
                0
                0
                0
                Smart Citations
                0
                0
                0
                0
                Citing PublicationsSupportingMentioningContrasting
                View Citations

                See how this article has been cited at scite.ai

                scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.

                Similar content225

                See all similar

                Cited by17

                See all cited by

                Most referenced authors3,352

                See all reference authors