Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

By S. Seal, Deborah J. Thompson, A. Renwick, Anna Elliott, P. Kelly, R. Barfoot, T. Chagtai, H. Jayatilake, Munaza Ahmed, Katarina Spanova and 8 more. Nature Genetics, 2006

754 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/3f709c1838dbdf929be7992d1c2a80ce59af812d

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In Genetics

1. M. Jasin
2. Sean V. Tavtigian
3. M. Moynahan

In Molecular Biology

1. M. Moynahan
2. M. Jasin
3. Weiran Feng
4. Yu Zhang
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6. Sean V. Tavtigian
7. Alan Ashworth
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Citations in the corpus

• RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study (2012, background): “Background: Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexpl”
• Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis (2010, positive): “Similar to PALB2, BRIP1 has been implicated as a human breast tumour suppressor, and inheritance of a mutated BRIP1 allele is estimated to result in a twofold increased risk of breast cance”
• Homologous recombination and human health: the roles of BRCA1, BRCA2 and associated proteins (2015, background): “…predisposition, such that BRIP1 is considered to be a Fanconi anemia gene subtype (FA-J); monoallelic mutations are associated with breast and ovarian cancer predisposition (Cantor et al. 2001; Levitus et al. 2005; Levran et al. 2005; Litman et al. 2005; Seal et al. 2006; Rafnar et al. 2011).”