Absence of the FANCM c.5101C>T mutation in BRCA1/2-negative triple-negative breast cancer patients from Pakistan
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Breast cancer is the most common cancer among women worldwide. Approximately 5–10 % of breast cancers are hereditary, and caused by monoallelic germ line mutations in high-, moderate-, and low-penetrance breast cancer susceptibility genes. Several of these genes such as BRCA1, BRCA2, PALB2, BRIP1, and genes of the RAD51 family play an important role in maintenance of genomic stability and are functionally linked with homologous recombination-mediated DNA damage repair. Breast cancer susceptibility is connected with the Fanconi anemia (FA) pathway, since biallelic mutations in at least four genes, BRCA2 (FANCD1) , PALB2 (FANCN) , BRIP1 (FANCJ) , and RAD51C (FANCO)  have been shown to also cause FA.
Recently, Kiiski and colleagues identified the FA complementation group M (FANCM) gene as a novel breast cancer susceptibility gene . A nonsense mutation in exon 20, c.5101C>T (p.Q1701X), was identified by exome sequencing of germline DNA samples from 24 breast cancer patients...
KeywordsBreast Cancer Fanconi Anemia TNBC Patient Breast Cancer Susceptibility Gene Ovarian Cancer Family
We are grateful to all patients and healthy controls for their participation in this study. We thank Heli Nevanlinna for DNA samples of FANCM c.5101C>T mutation carriers. We thank Iqbal U. Ali for critical review of the manuscript. This work was supported by the SKMCH & RC, Lahore, Pakistan.
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