domingo, 7 de enero de 2018

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy. - PubMed - NCBI

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy. - PubMed - NCBI



 2017 Dec 26;38:92-97. doi: 10.1016/j.breast.2017.12.013. [Epub ahead of print]

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.

Abstract

INTRODUCTION:

Breast cancer (BC) in men is a rare disease, whose etiology appears to be associated with genetic factors. Inherited mutations in BRCA1/2 genes account for about 10-15% of all cases. FANCM, functionally linked to BRCA1/2, has been suggested as a novel BC susceptibility gene. Our aim was to test if FANCM germline mutations could further explain male BC (MBC) susceptibility.

METHODS:

We screened the entire coding region of FANCM in 286 MBCs by a multi-gene panel analysis, and compared these data with available whole exome sequencing data from 415 men used as population controls. Moreover, we genotyped the two most frequent FANCM mutations (c.5101C>T and c.5791C>T) in 506 MBCs and 854 healthy male controls.

RESULTS:

Two FANCM truncating mutations, the c.1432C>T (p.Arg478Ter) and c.1972C>T (p.Arg658Ter), were identified in two MBC cases (0.7%). When specifically considering cases at increased genetic risk for BC, FANCM mutation frequency raises up to 1%. One mutation, the c.2201_2202delCT (p.Ser734Terfs), was found among controls (0.24%). Mutation frequency in cases was higher than in controls, however this difference was not statistically significant. FANCM c.5101C>T was not present in any of the cases and controls analyzed, whereas FANCM c.5791C>T was found in two controls (0.23%).

CONCLUSION:

Rare FANCM truncating mutations, other than c.5101C>T and c.5791C>T, may have a role in MBC susceptibility. The inclusion of FANCM in gene panels for research purpose would allow for the identification of a higher number of mutation carriers, thus helping estimate BC risk associated with FANCM mutations.

KEYWORDS:

BRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer

PMID:
 
29287190
 
DOI:
 
10.1016/j.breast.2017.12.013

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