A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families-Reference-Cited by-同舟云学术

A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families

Published:2020-05-12 Issue:3 Volume:59 Page:e95-e98
ISSN:1437-4331
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:en
Short-container-title:

Author:

Capoluongo Ettore¹,De Matteis Elisabetta²,Cucinotto Iole³,Ronzino Graziana²,Santonocito Concetta⁴,Tornesello Assunta⁵,De Giorgio Maria Rita²,Lucci Cordisco Emanuela⁶,Minucci Angelo⁴,Genuardi Maurizio⁶⁷

Affiliation:

1. Dipartimento di Medicina Molecolare e Biotecnologie Mediche , Università di Napoli Federico II – CEINGE, Biotecnologie Avanzate , Naples , Italy

2. Oncology Unit , Ospedale “Vito Fazzi” Lecce , Italy

3. Medical Affairs Italy, Galapagos Biopharma , Milan , Italy

4. Molecular and Genomic Diagnostics Laboratory , Fondazione Policlinico Universitario A. Gemelli IRCCS , Rome , Italy

5. Pediatric Oncology Unit , Ospedale Vito Fazzi , Lecce , Italy

6. Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica , Rome , Italy

7. Istituto di MEdicina Genomica Univarsità Cattolica del Sacro Cuore , Rome , Italy

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/cclm-2020-0389/pdf

Reference10 articles.

1. Capoluongo E. BRCA to the future: towards best testing practice in the era of personalised healthcare. Eur J Hum Genet 2016;24(Suppl 1):S1–2.

2. Gallotta V, Conte C, D’Indinosante M, Capoluongo E, Minucci A, De Rose AM, et al. Prognostic factors value of germline and somatic BRCA in patients undergoing surgery for recurrent ovarian cancer with liver metastases. Eur J Surg Oncol 2019;45:2096–102.

3. Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, et al. Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives. Crit Rev Oncol Hematol 2019;140:67–72.

4. Concolino P, Rizza R, Hackmann K, Paris I, Minucci A, De Paolis E, et al. Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. Breast Cancer Res Treat 2017;164:497–503.

5. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7–12.

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