BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

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• 作者：Inmaculada de Juan ; Sarai Palanca ; Asunción Domenech ; Lidia Feliubadaló…
• 关键词：Familial male breast cancer ; Hereditary breast and ovarian cancer syndrome ; BRCA1 ; BRCA2 mutations
• 刊名：Familial Cancer
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：14
• 期：4
• 页码：505-513
• 全文大小：425 KB
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• 作者单位：Inmaculada de Juan (1)
  Sarai Palanca (1)
  Asunción Domenech (1)
  Lidia Feliubadaló (2)
  ángel Segura (3)
  Ana Osorio (4)
  Isabel Chirivella (5)
  Miguel de la Hoya (6)
  Ana Beatriz Sánchez (7)
  Mar Infante (8)
  Isabel Tena (9)
  Orland Díez (10)
  Zaida Garcia-Casado (11)
  Ana Vega (12)
  àlex Teulé (2)
  Alicia Barroso (4)
  Pedro Pérez (13)
  Mercedes Durán (8)
  Estela Carrasco (14)
  Ma José Juan-Fita (15)
  Rosa Murria (1)
  Marta Llop (1)
  Eva Barragan (1)
  ángel Izquierdo (2)
  Javier Benítez (16)
  Trinidad Caldés (6)
  Dolores Salas (17)
  Pascual Bolufer (1)
  
  1. Laboratory of Molecular Biology, Service of Clinical Analysis, University and Polytechnic Hospital La Fe, Escuela de Enfermería 7a planta. Avd. Campanar 21, Valencia, 46009, Spain
  2. Hereditary Cancer Program, Catalan Institute of Oncology (ICO), L’Hospitalet de Llobregat (Barcelona), Spain
  3. Unit of Genetic Counseling in Cancer, Hospital Universitario y Politécnico La Fe, Valencia, Spain
  4. Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre and Spanish Network on Rare Diseases (CIBERER), Madrid, Spain
  5. Unit of Genetic Counseling in Cancer, Hospital Clínico, Valencia, Spain
  6. Molecular Oncology Laboratory, IdISSC, Hospital Clínico San Carlos, Madrid, Spain
  7. Unit of Genetic Counseling in Cancer, Hospital General de Elche, Elche, Spain
  8. Cancer Genetic Group, Institute of Genetics and Molecular Biology (UVa-CSIC), Valladolid, Spain
  9. Unit of Genetic Counseling in Cancer, Hospital General de Castellón, Castellón, Spain
  10. Oncogenetics Laboratory, University Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Universitat Autònoma de Barcelona, Barcelona, Spain
  11. Laboratory of Molecular Biology, Valencian Institute of Oncology (IVO), Valencia, Spain
  12. Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela, Spain
  13. Department of Oncology, IdISSC, Hospital Clínico San Carlos, Madrid, Spain
  14. High Risk and Prevention Unit, University Hospital Vall d’Hebron, Barcelona, Spain
  15. Unit of Genetic Counseling in Cancer, IVO, Valencia, Spain
  16. Human Genetics Group and Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre and Spanish Network on Rare Diseases (CIBERER), Madrid, Spain
  17. General Directorate Public Health and Centre for Public Health Research (CSISP), Valencia Genetic Counseling in Cancer Programme, Valencia, Spain
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  Human Genetics
  Epidemiology
  
• 出版者：Springer Netherlands
• ISSN：1573-7292

文摘

Male breast cancer (MBC) is a rare disease that represents <1 % of all breast cancers (BCs). We analyze the results of a multicenter study performed in Spanish familial MBC including family history of hereditary breast and ovarian cancer syndrome (HBOCS) and clinicopathological features. We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (MAC) and, family history and tumor types. The study included 312 men index cases with family history of HBOCS and 61 MAC BRCA1/2 mutation-carriers. Family history, histological grade (HG), clinicopathological and immunohistochemistry data were collected. BRCA1/2 mutation analyses were performed by direct sequencing or screening methods and the large rearrangements by multiplex ligation dependent probe amplification. We found 49 mutation-carriers (15.7 %), 95.9 % with BRCA2 mutations. BRCA2 mutation-carriers were associated with families with at least one MBC and one BC in female (type II; p = 0.05). Strong association were found between the presence of pathogenic mutations in MBCs and the advanced HG (p = 0.003). c.658_659delTG, c.2808_2811delACAA, c.6275_6276delTT and c.9026_9030delATCAT were the most prevalent mutations. In 61 MAC we found 20 mutations in BRCA1 and 41 in BRCA2. For MAC we show that mutational status was differentially associated with family history (p = 0.018) and tumor type, being BRCA2 mutations linked with BC and prostatic cancer (p = 0.018). MBC caused by BRCA1/2 mutations define two types of MBCs. The most frequent caused by BRCA2 mutation linked to type II families and the rarest one attributed to BRCA1 mutation. Tumor associated with MAC suggest that only BRCA2 mutations have to do with a specific type of cancer (BC and prostatic cancer); but the linkage to tumors is questionable for BRCA1 mutations . Keywords Familial male breast cancer Hereditary breast and ovarian cancer syndrome BRCA1 BRCA2 mutations