Associated Papers
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants.
Chen X et al.
Jama Oncology, 2023
Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.
Aljarf R et al.
Scientific Reports, 2022
35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Tubeuf H et al.
Cancer Research, 2020
[Mechanisms of genomic instability in Fanconi anemia].
Itaya A et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010
Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.
Yagasaki H et al.
Human Mutation, 2003
[Fanconi anemia].
Bessho F
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000
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