• Publications
  • Influence
Referral for cancer genetics consultation: a review and compilation of risk assessment criteria
Background: There have been many papers on the diagnostic criteria for specific hereditary cancer susceptibility syndromes and the likelihood that an individual has a germline mutation in one of theExpand
  • 155
  • 6
  • PDF
Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancerExpand
  • 100
  • 3
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.
A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested strongerExpand
  • 74
  • 2
  • PDF
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium
Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associationsExpand
  • 54
  • 2
  • PDF
The APCI1307K allele and breast cancer risk.
  • 18
  • 1
A family with three germline mutations in BRCAl and BRCA2
Liede A, Metcalfe K, Offit K, Brown K, Miller S, Narod SA, Moslehi R. A family with three germline mutations in BRCAl and BRCA2. Clin Genet 1998: 54: 215–218. 0 Munksgaard. 1998
  • 16
Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma.
Given the frequent and largely incurable occurrence of multiple myeloma, identification of germline genetic mutations that predispose cells to multiple myeloma may provide insight into diseaseExpand
  • 20
  • PDF
Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes
To the Editor : In the 16 years since the discovery of BRCA1 and BRCA2, only one de novo mutation in the BRCA1 gene and four de novo mutations in the BRCA2 gene have been reported in the literatureExpand
  • 8
What Women with Breast Cancer Discuss with Clinicians About Risk for Their Adolescent Daughters
Recorded conversations between women undergoing BRCA genetic counseling with clinicians (N = 16) and follow-up consultation letters (N = 16) were analyzed to determine how and when communicatingExpand
  • 5
Papillary mucinous adenomaarising in adenomyomatous hyperplasia ofthegall bladder
A caseofpapillary mucinousadenoma arising inadenomyomatous hyperplasia (AMH)ofthegall bladder isreported. The lesion wasunsuspected anddiscovered by routine palpation ofthegallbladder duringExpand