A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results

被引：16

作者：

Cortesi, Laura ^{[1
]}

Baldassarri, Bruna ^{[2
]}

Ferretti, Stefano ^{[2
]}

Razzaboni, Elisabetta ^{[1
]}

Bella, Mariangela ^{[3
]}

Bucchi, Lauro ^{[4
]}

Canuti, Debora ^{[5
]}

De Iaco, Pierandrea ^{[6
]}

De Santis, Giorgio ^{[7
]}

Falcini, Fabio ^{[8
]}

Galli, Vania ^{[9
]}

Godino, Lea ^{[10
]}

Leoni, Maurizio ^{[11
]}

Perrone, Anna Myriam ^{[6
]}

Pignatti, Marco ^{[7
]}

Saguatti, Gianni ^{[12
]}

Santini, Donatella ^{[13
]}

de'Bianchi, Priscilla Sassoli ^{[2
]}

Sebastiani, Federica ^{[1
]}

Taffurelli, Mario ^{[14
]}

Tazzioli, Giovanni ^{[15
]}

Turchetti, Daniela ^{[10
]}

Zamagni, Claudio ^{[16
]}

Naldoni, Carlo ^{[2
]}

机构：

[1] Univ Modena, Dept Oncol & Haematol, Azienda Osped, Osped Civile Baggiovara, Via Pozzo 71, I-41124 Modena, Italy

[2] Dept Hlth & Welf, Bologna, Emilia Romagna, Italy

[3] Univ Hosp Parma, Med Oncol Unit, Parma, Italy

[4] Ist Sci Romagnolo Studio & Cura Tumori SrL, Romagna Canc Registry, Meldola, Italy

[5] Local Hlth Agcy Romagna, Canc Screening Unit, Rimini, Italy

[6] Univ Bologna, Dept Obstet & Gynecol, Unit Oncol Gynecol, Hosp Bologna St Orsola Malpighi Polyclin, Bologna, Italy

[7] Univ Modena & Reggio Emilia, Div Plast Surg, Modena, Italy

[8] Ist Sci Romagnolo Studio & Cura Tumori SrL, Forli, Italy

[9] AUSL Modena, Mammog Screening Ctr, Modena, Italy

[10] Univ Bologna, Hosp St Orsola Malpighi Polyclin, Dept Med & Surg Sci, Bologna, Italy

[11] Osped Santa Maria delle Croci, Oncol Unit, Ravenna, Italy

[12] Bellaria Carlo Alberto Pizzardi Hosp, Senol Unit, Bologna, Italy

[13] Univ Bologna, Hosp Bologna, St Orsola Malpiglai Polyclin, Bologna, Italy

[14] Univ Bologna, Dept Hlth Woman Child & Urol Dis, Hosp Bologna St Orsola Malpighi Polyclin, Bologna, Italy

[15] Univ Modena & Reggio Emilia, Dept Med & Surg Sci Children & Adults, Modena, Italy

[16] Univ Bologna, Dept Hematol & Oncol, Hosp Bologna St Orsola Malpighi Polyclin, Bologna, Italy

来源：

CANCER MEDICINE | 2020年 / 9卷 / 07期

关键词：

hereditary breast ovarian cancer; population-based screening; Tyrer-Cuzick model; RISK-ASSESSMENT; FAMILY-HISTORY; HEALTH-CARE; GENETICS; BRCA1; WOMEN; VALIDATION; MUTATIONS; FEATURES; SOCIETY;

D O I：

10.1002/cam4.2824

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background Up to 10% of individuals with breast cancer (BC) belong to families with hereditary syndromes. The aim of this study was to develop an instrument to identify individuals/families at high-hereditary risk for BC and offer dedicated surveillance programs according to different risks. Methods The instrument consisted of a primary questionnaire collecting history of BC and ovarian cancer (OC). This questionnaire was applied to women enrolled in the Emilia-Romagna Breast Cancer Screening Program. General practitioners (GPs) and specialists could propose the same questionnaire too. Women with a score of >= 2, were invited to complete an oncogenetic counseling. According to the Tyrer-Cuzick evaluation, women considered at high risk were invited to involve the most representative alive individual of the family affected with BC/OC for BRCA1/2 genetic testing. Results Since January 2012 and December 2016, 660 040 women were evaluated by the regional screening program, of which 22 289 (3.5%) were invited to the Spoke evaluation, but only 5615 accepted (25.2%). Totally, also considering women sent by GPs and specialists, 11 667 were assessed and 5554 were sent to the Hub evaluation. Finally, 2342 (42.8%) women fulfilled the criteria for genetic testing, and 544 (23.2%) resulted BRCA1/2 mutation carriers. Conclusions To our knowledge, this is the first regional population-based multistep model that is aimed to identify individuals with BRCA1/2 mutations and to offer an intensive surveillance program for hereditary-high risk women. This tool is feasible and effective, even if more efforts must be performed to increase the acceptance of multiple assessments by the study population.

引用

页码：2579 / 2589

页数：11

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