|
Burkitt Lymphoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we also identified an inherited heterozygous truncating c.5791CT FANCM mutation that may contribute to the unusual recurrence of BL.
|
30779244 |
2019 |
|
Adult Burkitt Lymphoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we also identified an inherited heterozygous truncating c.5791CT FANCM mutation that may contribute to the unusual recurrence of BL.
|
30779244 |
2019 |
|
Childhood Burkitt Lymphoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we also identified an inherited heterozygous truncating c.5791CT FANCM mutation that may contribute to the unusual recurrence of BL.
|
30779244 |
2019 |
|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here we report three individuals with biallelic FANCM truncating mutations who developed early-onset cancer and toxicity to chemotherapy but did not present congenital malformations or any hematological phenotype suggestive of FA.MethodsChromosomal breakages, interstrand crosslink sensitivity, and FANCD2 monoubiquitination were assessed in primary fibroblasts.
|
28837157 |
2018 |
|
Chronic Fatigue Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
We propose that BLM and FANCM utilize different mechanisms to remove DNA secondary structures forming at CFS-AT on replication forks, thereby preventing DSB formation and maintaining CFS stability.
|
30496191 |
2018 |
|
Carcinoma of Male Breast
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
|
29287190 |
2018 |
|
Malignant neoplasm of male breast
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
|
29287190 |
2018 |
|
Congenital absence of germinal epithelium of testes
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the individual with SCOS carrying bi-allelic FANCM LoF variants, none or only faint expression was detected in the Sertoli cells.
|
30075111 |
2018 |
|
Malignant tumor of colon
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Comparison of the transcriptome data of metastasis-competent CTC-MCC-41 cells and of HT-29 cells (derived from a primary colon cancer) highlights the differential expression of genes that regulate energy metabolism [peroxisome proliferator-activated receptor γ coactivator 1A (<i>PPARGC1A</i>), peroxisome proliferator-activated receptor γ coactivator 1B (<i>PPARGC1B</i>), fatty acid binding protein 1 (<i>FABP1</i>), aldehyde dehydrogenase 3 family member A1 (<i>ALDH3A1</i>)], DNA repair [BRCA1 interacting protein C-terminal helicase 1 (<i>BRIP1</i>), Fanconi anemia complementation group B (<i>FANCB</i>), Fanconi anemia complementation group M (<i>FANCM</i>)], and stemness [glutaminase 2 (<i>GLS2</i>), cystathionine-beta-synthase (<i>CBS</i>), and cystathionine gamma-lyase (<i>CTH</i>)].
|
28007957 |
2017 |
|
Ovarian Failure, Premature
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in <i>FANCM,</i> leading to a truncated protein (p.Gln1701*).
|
29231814 |
2017 |
|
Colon Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Comparison of the transcriptome data of metastasis-competent CTC-MCC-41 cells and of HT-29 cells (derived from a primary colon cancer) highlights the differential expression of genes that regulate energy metabolism [peroxisome proliferator-activated receptor γ coactivator 1A (<i>PPARGC1A</i>), peroxisome proliferator-activated receptor γ coactivator 1B (<i>PPARGC1B</i>), fatty acid binding protein 1 (<i>FABP1</i>), aldehyde dehydrogenase 3 family member A1 (<i>ALDH3A1</i>)], DNA repair [BRCA1 interacting protein C-terminal helicase 1 (<i>BRIP1</i>), Fanconi anemia complementation group B (<i>FANCB</i>), Fanconi anemia complementation group M (<i>FANCM</i>)], and stemness [glutaminase 2 (<i>GLS2</i>), cystathionine-beta-synthase (<i>CBS</i>), and cystathionine gamma-lyase (<i>CTH</i>)].
|
28007957 |
2017 |
|
Triple Negative Breast Neoplasms
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The frequency of the FANCM c.5791C>T mutation was higher among breast cancer cases than in controls (OR 1.94, 95% CI 0.87-4.32, P = 0.11), with a statistically significant association with triple-negative breast cancer (OR 5.14, 95% CI 1.65-16.0, P = 0.005).
|
28702895 |
2017 |
|
Triple-Negative Breast Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The frequency of the FANCM c.5791C>T mutation was higher among breast cancer cases than in controls (OR 1.94, 95% CI 0.87-4.32, P = 0.11), with a statistically significant association with triple-negative breast cancer (OR 5.14, 95% CI 1.65-16.0, P = 0.005).
|
28702895 |
2017 |
|
Osteosarcoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Four SNPs in the DNA repair gene FANCM (ORs 1.9-2.0, P = 0.003-0.004) and 2 SNPs downstream of the growth hormone gene GH1 (OR 1.6, P = 0.002; OR 0.5, P = 0.0009) were significantly associated with OS.
|
21619704 |
2011 |
|
Osteosarcoma of bone
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Four SNPs in the DNA repair gene FANCM (ORs 1.9-2.0, P = 0.003-0.004) and 2 SNPs downstream of the growth hormone gene GH1 (OR 1.6, P = 0.002; OR 0.5, P = 0.0009) were significantly associated with OS.
|
21619704 |
2011 |
|
Childhood Osteosarcoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Four SNPs in the DNA repair gene FANCM (ORs 1.9-2.0, P = 0.003-0.004) and 2 SNPs downstream of the growth hormone gene GH1 (OR 1.6, P = 0.002; OR 0.5, P = 0.0009) were significantly associated with OS.
|
21619704 |
2011 |
|
Male infertility
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
A homozygous PV in FANCM (c.1946_1958del, p.P648Lfs*16) was found cosegregating with male infertility.
|
29895858 |
2019 |
|
Male infertility
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility.
|
30158692 |
2019 |
|
Atypical Lipoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
The studies reviewed here not only unveil a novel function for human FANCM, but also point to this enzyme as a promising target for anti-ALT cancer therapy.
|
31552268 |
2019 |
|
Atypical Lipoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Synthetic inhibition of FANCM-BTR complex formation is selectively toxic to ALT cancer cells.
|
31138797 |
2019 |
|
Malignant neoplasm of ovary
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of FANCM and RECQL in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123).
|
29351780 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP M
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous loss-of-function (LoF) variants in FANCM (Fanconi anemia complementation group M) were detected as the most likely cause for their condition.
|
30075111 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP M
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The genotype of Fanconi Anemia complementation group M (FANCM) was previously found to be associated with breast cancer risk in several populations.
|
29388117 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of FANCM and RECQL in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123).
|
29351780 |
2018 |
|
Colorectal Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
High-throughput sequencing analysis has accelerated searches for genes associated with risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1, TP53, BUB1, BUB3, LRP6, and PTPN12 have been recently proposed to increase CRC risk.
|
27713038 |
2017 |