S. Neuhausen

Publications524
h-index101
Citations43,165
Highly Influential Citations1,179
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Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
TLDR
The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers, but there was some suggestion of a lower risk in bRCA2 carriers <50 years of age.
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.
TLDR
This analysis localized a second breast cancer susceptibility locus, BRCA2, to a 6-centimorgan interval on chromosome 13q12-13, which preliminary evidence suggests suggests confers a high risk of breast cancer but does not confer a substantially elevated risk of ovarian cancer.
Multiple common variants for celiac disease influencing immune gene expression
TLDR
Variants from 13 new regions reached genome-wide significance and most contain genes with immune functions, with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.
Association analysis identifies 65 new breast cancer risk loci
TLDR
A genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry finds that heritability of Breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome- wide average.
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
TLDR
Among a cohort of women with BRCa1 and BRCA2 mutations, the use of risk-reducing mastectomy was associated with a lower risk of breast cancer, first diagnosis of breastcancer, all-cause mortality, breast cancer-specific mortality, and ovarian cancer- specific mortality.
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
TLDR
The complete coding sequence and exonic structure of BRCA2 is determined, and its pattern of expression is examined, and a mutational analysis of B RCA2 in families selected on the basis of linkage analysis and/or the presence of one or more cases of male breast cancer is reported.
Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.
TLDR
Oophorectomy is an effective means of reducing the risk of breast cancer in carriers of BRCA1 mutations, and the data suggest oophoreCTomy is protective in BRCa2 carriers as well, but needs to be confirmed in other studies.
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.
TLDR
Bilateral prophylactic mastectomy reduces the risk of breast cancer in women with BRCA1/2 mutations by approximately 90%.
A candidate prostate cancer susceptibility gene at chromosome 17p
TLDR
A genome-wide scan of large, high-risk pedigrees from Utah has provided evidence for linkage to a locus on chromosome 17p, identifying a gene, ELAC2, harboring mutations (including a frameshift and a nonconservative missense change) that segregate with prostate cancer in two pedigree.
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
TLDR
15 new loci associated with breast cancer at P < 5 × 10−8 are identified, and one association appears to be driven by an amino acid substitution encoded in EXO1, which is found in women of European ancestry.
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