Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM "El Álamo III" retrospective study

• Published in: PloS one 2017-10, Vol.12 (10), p.e0184181-e0184181
• Main Authors: Márquez-Rodas, Iván, Pollán, Marina, Escudero, María José, Ruiz, Amparo, Martín, Miguel, Santaballa, Ana, Martínez Del Prado, Purificación, Batista, Norberto, Andrés, Raquel, Antón, Antonio, Llombart, Antonio, Fernandez Aramburu, Antonio, Adrover, Encarnación, González, Sonia, Seguí, Miguel Angel, Calvo, Lourdes, Lizón, José, Rodríguez Lescure, Álvaro, Ramón Y Cajal, Teresa, Llort, Gemma, Jara, Carlos, Carrasco, Eva, López-Tarruella, Sara
• Format: Article
• Language: English
• Subjects: Adult; Biology and Life Sciences; Breast cancer; Breast Neoplasms - epidemiology; Breast Neoplasms - genetics; Cancer; Criteria; Family medical history; Female; Genetic Counseling; Genetic Predisposition to Disease; Genetic screening; Health risk assessment; Health risks; Humans; Mammography; Medical diagnosis; Medical prognosis; Medicine and Health Sciences; Metastases; Middle Aged; Mutation; Ovarian cancer; Patients; Prevalence; Prognosis; Registries; Retrospective Studies; Risk analysis; Spain - epidemiology; Tumors
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0184181

To determine the frequency of breast cancer (BC) patients with hereditary risk features in a wide retrospective cohort of patients in Spain. a retrospective analysis was conducted from 10,638 BC patients diagnosed between 1998 and 2001 in the GEICAM registry "El Álamo III", dividing them into four groups according to modified ESMO and SEOM hereditary cancer risk criteria: Sporadic breast cancer group (R0); Individual risk group (IR); Familial risk group (FR); Individual and familial risk group (IFR) with both individual and familial risk criteria. 7,641 patients were evaluable. Of them, 2,252 patients (29.5%) had at least one hereditary risk criteria, being subclassified in: FR 1.105 (14.5%), IR 970 (12.7%), IFR 177 (2.3%). There was a higher frequency of newly diagnosed metastatic patients in the IR group (5.1% vs 3.2%, p = 0.02). In contrast, in RO were lower proportion of big tumors (> T2) (43.8% vs 47.4%, p = 0.023), nodal involvement (43.4% vs 48.1%, p = 0.004) and lower histological grades (20.9% G3 for the R0 vs 29.8%) when compared to patients with any risk criteria. Almost three out of ten BC patients have at least one hereditary risk cancer feature that would warrant further genetic counseling. Patients with hereditary cancer risk seems to be diagnosed with worse prognosis factors.