Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.

Autor: Rosado-Jiménez L; Genomics Laboratory, Department Service of Clinical Laboratory Analysis, Clinical University Hospital Virgen de la Arrixaca, Murcia, Spain., Mestre-Terkemani Y; Genomics Laboratory, Department Service of Clinical Laboratory Analysis, Clinical University Hospital Virgen de la Arrixaca, Murcia, Spain., García-Aliaga Á; Genomics Laboratory, Department Service of Clinical Laboratory Analysis, Clinical University Hospital Virgen de la Arrixaca, Murcia, Spain., Marín-Vera M; Service of Medical Oncology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Macías-Cerrolaza JA; Department of Medical Oncology, Clinical University Hospital Morales Meseguer, Murcia, Spain., Sarabia-Meseguer MD; Genomics Laboratory, Department Service of Clinical Laboratory Analysis, Clinical University Hospital Virgen de la Arrixaca, Murcia, Spain., García-Hernández MR; Service of Medical Oncology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Zafra-Poves M; Department of Medical Oncology, Clinical University Hospital Morales Meseguer, Murcia, Spain., Sánchez-Henarejos P; Service of Medical Oncology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Ayala de la Peña F; Department of Medical Oncology, Clinical University Hospital Morales Meseguer, Murcia, Spain., Alonso-Romero JL; Service of Medical Oncology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Noguera-Velasco JA; Genomics Laboratory, Department Service of Clinical Laboratory Analysis, Clinical University Hospital Virgen de la Arrixaca, Murcia, Spain., Ruiz-Espejo F; Genomics Laboratory, Department Service of Clinical Laboratory Analysis, Clinical University Hospital Virgen de la Arrixaca, Murcia, Spain.

Publikováno v: Advances in laboratory medicine [Adv Lab Med] 2023 Sep 22; Vol. 4 (3), pp. 279-287. Date of Electronic Publication: 2023 Sep 22 (Print Publication: 2023).

Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.

Autor: Castillo-Guardiola V; Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain. Electronic address: veronica.castillo@carm.es., Rosado-Jiménez L; Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain., Sarabia-Meseguer MD; Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain., Marín-Vera M; Department of Medical Oncology, Clinical University Hospital Virgen Arrixaca, Spain., Macías-Cerrolaza JA; Department of Medical Oncology, Clinical University Hospital Morales Meseguer, Spain., García-Hernández R; Department of Medical Oncology, Clinical University Hospital Virgen Arrixaca, Spain., Zafra-Poves M; Department of Medical Oncology, Clinical University Hospital Morales Meseguer, Spain., Sánchez-Henarejos P; Department of Medical Oncology, Clinical University Hospital Virgen Arrixaca, Spain., Moreno-Locubiche MÁ; Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain., Cuevas-Tortosa E; Department of Medical Oncology, Clinical University Hospital Virgen Arrixaca, Spain., Arnaldos-Carrillo M; Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain., Ayala de la Peña F; Department of Medical Oncology, Clinical University Hospital Morales Meseguer, Spain., Alonso-Romero JL; Department of Medical Oncology, Clinical University Hospital Virgen Arrixaca, Spain., Noguera-Velasco JA; Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain., Ruiz-Espejo F; Genomics Laboratory, Department of Clinical Analyses. Clinical University Hospital Virgen Arrixaca, Spain.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2022 Apr; Vol. 65 (4), pp. 104468. Date of Electronic Publication: 2022 Mar 01.

Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).

Autor: Sánchez-Bermúdez AI; Genetic Diagnostic Laboratory, Department of Clinical Analyses, Virgen de La Arrixaca University Hospital, Spain. Electronic address: ana.sanchez.bermudez@gmail.com., Sarabia-Meseguer MD; Genetic Diagnostic Laboratory, Department of Clinical Analyses, Virgen de La Arrixaca University Hospital, Spain., García-Aliaga Á; Genetic Diagnostic Laboratory, Department of Clinical Analyses, Virgen de La Arrixaca University Hospital, Spain., Marín-Vera M; Department of Medical Oncology, Virgen de La Arrixaca Clinical University Hospital, Spain., Macías-Cerrolaza JA; Department of Medical Oncology, Morales Meseguer University Hospital, Spain., Henaréjos PS; Department of Medical Oncology, Virgen de La Arrixaca Clinical University Hospital, Spain., Guardiola-Castillo V; Genetic Diagnostic Laboratory, Department of Clinical Analyses, Virgen de La Arrixaca University Hospital, Spain., Peña FA; Department of Medical Oncology, Morales Meseguer University Hospital, Spain., Alonso-Romero JL; Department of Medical Oncology, Virgen de La Arrixaca Clinical University Hospital, Spain., Noguera-Velasco JA; Genetic Diagnostic Laboratory, Department of Clinical Analyses, Virgen de La Arrixaca University Hospital, Spain., Ruiz-Espejo F; Genetic Diagnostic Laboratory, Department of Clinical Analyses, Virgen de La Arrixaca University Hospital, Spain.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2018 Jun; Vol. 61 (6), pp. 355-361. Date of Electronic Publication: 2018 Feb 02.

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.

Autor: Gabaldó Barrios X; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain., Sarabia Meseguer MD; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain. mdesamparados.sarabia@carm.es., Marín Vera M; Genetic Counseling Unit, Department of Oncology, Virgen de la Arrixaca University Clinical Hospital, Murcia, Spain., Sánchez Bermúdez AI; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain., Macías Cerrolaza JA; Genetic Counseling Unit, Department of Oncology, Morales Meseguer University General Hospital, Murcia, Spain., Sánchez Henarejos P; Genetic Counseling Unit, Department of Oncology, Virgen de la Arrixaca University Clinical Hospital, Murcia, Spain., Zafra Poves M; Genetic Counseling Unit, Department of Oncology, Morales Meseguer University General Hospital, Murcia, Spain., García Hernández MR; Genetic Counseling Unit, Department of Oncology, Virgen de la Arrixaca University Clinical Hospital, Murcia, Spain., Cuevas Tortosa E; Genetic Counseling Unit, Department of Oncology, Virgen de la Arrixaca University Clinical Hospital, Murcia, Spain., Aliaga Baño Á; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain., Castillo Guardiola V; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain., Martínez Hernández P; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain., Tovar Zapata I; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain., Martínez Barba E; Department of Pathology, Virgen de la Arrixaca University Clinical Hospital, Murcia, Spain., Ayala de la Peña F; Genetic Counseling Unit, Department of Oncology, Morales Meseguer University General Hospital, Murcia, Spain., Alonso Romero JL; Genetic Counseling Unit, Department of Oncology, Virgen de la Arrixaca University Clinical Hospital, Murcia, Spain., Noguera Velasco JA; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain., Ruiz Espejo F; Genomics Laboratory, Deparment of Clinical Analysis, Virgen de la Arrixaca University Clinical Hospital, Ctra. Madrid-Cartagena, s/n El Palmar, 30120, Murcia, Spain.

Publikováno v: Familial cancer [Fam Cancer] 2017 Oct; Vol. 16 (4), pp. 477-489.

Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.

Autor: Gabaldó Barrios X; Genetic Diagnostic Laboratory, University Hospital Virgen de la Arrixaca, Carretera Madrid-Cartagena s/n, 30120, El Palmar, Murcia, Spain, xgabaldo83@gmail.com., Sarabia Meseguer MD, Alonso Romero JL, Marín Vera M, Marín Zafra G, Sánchez Henarejos P, Sánchez Bermúdez AI, Ruiz Espejo F

Publikováno v: Familial cancer [Fam Cancer] 2014 Sep; Vol. 13 (3), pp. 431-5.