PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia

Niall G. Howlett, Toshiyasu Taniguchi, Susan B. Olson et al. · Science · 2002 · 1.1K citations

Biallelic Inactivation, Genome Instability, Fanconi Anemia +12

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

Deborah J. Thompson, Richard S. Houlston, Catherine Phelan · Nature Genetics · 2002 · 1.1K citations · Full text

Breast Oncology, Medicine, Brca2 Mutations +7

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Kyriaki Michailidou · Nature Genetics · 2013 · 1.1K citations · Full text

Breast Cancer Risk, Cancer Risk, Medicine +9

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Nazneen Rahman, Sheila Seal, Deborah J. Thompson et al. · Nature Genetics · 2006 · 981 citations · Full text

Tumor Biology, Breast Oncology, Brca2-interacting Protein +11

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

Sheila Seal, Deborah J. Thompson, Anthony Renwick et al. · Nature Genetics · 2006 · 754 citations

Allelic Variant, Somatic Variant, Medicine +7