RT info:eu-repo/semantics/article
T1 BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study
A1 de Juan, Inmaculada
A1 Palanca, Sarai
A1 Domenech, Asunción
A1 Feliubadaló, Lidia
A1 Segura, Ángel
A1 Osorio, Ana
A1 Chirivella, Isabel
A1 de la Hoya, Miguel
A1 Sánchez, Ana Beatriz
A1 Infante Sanz, María del Mar
A1 Tena, Isabel
A1 Díez, Orland
A1 Garcia-Casado, Zaida
A1 Vega, Ana
A1 Teulé, Àlex
A1 Barroso, Alicia
A1 Pérez, Pedro
A1 Durán, Mercedes
A1 Carrasco, Estela
A1 Juan-Fita, Mª José
A1 Murria, Rosa
A1 Llop, Marta
A1 Barragan, Eva
A1 Izquierdo, Ángel
A1 Benítez, Javier
A1 Caldés, Trinidad
A1 Salas, Dolores
A1 Bolufer, Pascual
AB 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.
PB Springer
SN 1389-9600
YR 2015
FD 2015
LK https://uvadoc.uva.es/handle/10324/64453
UL https://uvadoc.uva.es/handle/10324/64453
LA eng
NO Familial Cancer, 14 (4), pp. 505-513.
NO Producción Científica
DS UVaDOC
RD 29-nov-2024