Literature DB >> 24276029

A rapid genetic counselling and testing in newly diagnosed breast cancer is associated with high rate of risk-reducing mastectomy in BRCA1/2-positive Italian women.

L Cortesi1, E Razzaboni, A Toss, E De Matteis, I Marchi, V Medici, G Tazzioli, A Andreotti, G De Santis, M Pignatti, M Federico.   

Abstract

BACKGROUND: Risk-reducing mastectomy (RRM) decreases breast cancer (BC) risk in BRCA1/2 mutation carriers by up to 95%, but the Italian attitude towards this procedure is reluctant. PATIENTS AND METHODS: This is an observational study with retrospective design, using quantitative and qualitative research methods, aimed at evaluating the attitude towards RRM by rapid genetic counselling and testing (RGCT), at the time of BC diagnosis, compared with traditional genetic counselling and testing (TGCT), after previous BC surgery. Secondary aims were to investigate patient satisfaction after RRM and the rate of occult tumour in healthy breasts. A total of 1168 patients were evaluated: 1058 received TGCT, whereas 110 underwent RGCT.
RESULTS: In TGCT, among 1058 patients, 209 (19.7%) mutation carriers were identified, with the rate of RRM being 4.7% (10 of 209). Conversely in RGCT, among 110 patients, 36 resulted positive, of which, 15 (41.7%) underwent bilateral mastectomy at the BC surgery time, showing an overall good satisfaction, measured by interpretative phenomenological analysis 12 months after the intervention.
CONCLUSIONS: Our study shows that RGCT in patients with a hereditary profile is associated with a high rate of RRM at the BC surgery time, this being the pathway offered within a multidisciplinary organization.

Entities:  

Keywords:  BRCA1/2 mutation carriers; acceptability; genetic counselling; risk-reducing mastectomy

Mesh:

Year:  2013        PMID: 24276029     DOI: 10.1093/annonc/mdt422

Source DB:  PubMed          Journal:  Ann Oncol        ISSN: 0923-7534            Impact factor:   32.976


  13 in total

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Authors:  Marc D Schwartz; Beth N Peshkin; Claudine Isaacs; Shawna Willey; Heiddis B Valdimarsdottir; Rachel Nusbaum; Gillian Hooker; Suzanne O'Neill; Lina Jandorf; Scott P Kelly; Jessica Heinzmann; Aliza Zidell; Katia Khoury
Journal:  Breast Cancer Res Treat       Date:  2018-04-02       Impact factor: 4.872

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Authors:  Nora E Carbine; Liz Lostumbo; Judi Wallace; Henry Ko
Journal:  Cochrane Database Syst Rev       Date:  2018-04-05

4.  Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study.

Authors:  M R Wevers; M K Schmidt; E G Engelhardt; S Verhoef; M J Hooning; M Kriege; C Seynaeve; M Collée; C J van Asperen; R A E M Tollenaar; L B Koppert; A J Witkamp; E J T Rutgers; N K Aaronson; M A Rookus; M G E M Ausems
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Review 5.  Hereditary ovarian cancer: not only BRCA 1 and 2 genes.

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6.  Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis.

Authors:  Siddhartha Yadav; Ashley Reeves; Sarah Campian; Amy Sufka; Dana Zakalik
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Authors:  Angela Toss; Giovanni Grandi; Angelo Cagnacci; Luigi Marcheselli; Silvia Pavesi; Elisabetta De Matteis; Elisabetta Razzaboni; Chiara Tomasello; Stefano Cascinu; Laura Cortesi
Journal:  Oncotarget       Date:  2017-02-07

8.  A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.

Authors:  Hector J Diaz-Zabala; Ana P Ortiz; Lisa Garland; Kristine Jones; Cynthia M Perez; Edna Mora; Nelly Arroyo; Taras K Oleksyk; Miguel Echenique; Jaime L Matta; Michael Dean; Julie Dutil
Journal:  Cancers (Basel)       Date:  2018-11-02       Impact factor: 6.639

9.  Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.

Authors:  Angela Toss; Marta Venturelli; Eleonora Molinaro; Stefania Pipitone; Elena Barbieri; Isabella Marchi; Elena Tenedini; Lucia Artuso; Sara Castellano; Marco Marino; Enrico Tagliafico; Elisabetta Razzaboni; Elisabetta De Matteis; Stefano Cascinu; Laura Cortesi
Journal:  Cancers (Basel)       Date:  2019-02-07       Impact factor: 6.639

10.  Preoperative diagnosis of BRCA1/2 mutation impacts decision-making for risk-reducing mastectomy in breast cancer patients.

Authors:  Jinsun Woo; Geumhee Gwak; Inseok Park; Byung Noe Bae; Se Kyung Lee; Byung Joo Chae; Jonghan Yu; Jeong Eon Lee; Seok Won Kim; Seok Jin Nam; Jai Min Ryu
Journal:  Sci Rep       Date:  2021-07-20       Impact factor: 4.379

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