Published in:
01-07-2015 | Letter to the Editor
Absence of the FANCM c.5101C>T mutation in BRCA1/2-negative triple-negative breast cancer patients from Pakistan
Authors:
Muhammad U. Rashid, Noor Muhammad, Faiz A. Khan, Ute Hamann
Published in:
Breast Cancer Research and Treatment
|
Issue 1/2015
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Excerpt
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) [
1],
PALB2 (
FANCN) [
2],
BRIP1 (
FANCJ) [
3], and
RAD51C (
FANCO) [
4] have been shown to also cause FA. …