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
Servicio de Oncología Médica, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Spanish Breast Cancer Research Group (GEICAM), San Sebastian de los Reyes, Spain.
PLoS One. 2017 Oct 6;12(10):e0184181. doi: 10.1371/journal.pone.0184181. eCollection 2017.
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.
在西班牙一个广泛的回顾性队列患者中，确定具有遗传风险特征的乳腺癌（BC）患者的比例。
对1998年至2001年在GEICAM登记处“埃尔阿拉莫三世”诊断的10638例BC患者进行回顾性分析，根据改良的欧洲肿瘤内科学会（ESMO）和西班牙肿瘤内科学会（SEOM）遗传性癌症风险标准将他们分为四组：散发性乳腺癌组（R0）；个体风险组（IR）；家族性风险组（FR）；同时符合个体和家族性风险标准的个体与家族性风险组（IFR）。
7641例患者可评估。其中，2252例患者（29.5%）至少有一项遗传风险标准，进一步分类为：FR组1105例（14.5%），IR组970例（12.7%），IFR组177例（2.3%）。IR组新诊断的转移性患者比例更高（5.1%对3.2%，p = 0.02）。相比之下，与有任何风险标准的患者相比，R0组大肿瘤（>T2）比例更低（43.8%对47.4%，p = 0.023），淋巴结受累比例更低（43.4%对48.1%，p = 0.004），组织学分级更低（R0组G3为20.9%对29.8%）。
近十分之三的BC患者至少有一项遗传性癌症风险特征，这需要进一步的遗传咨询。有遗传性癌症风险的患者似乎被诊断出具有更差的预后因素。
