PMID- 10486320
OWN - NLM
STAT- MEDLINE
DCOM- 20001002
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 4
DP  - 1999 Oct
TI  - The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian
      cancer: no evidence for other ovarian cancer-susceptibility genes.
PG  - 1021-9
AB  - To establish the contribution of germline BRCA1 and BRCA2 mutations to familial
      ovarian cancer, we have analyzed both genes in DNA samples obtained from an
      affected individual in each of 112 families containing at least two cases of
      epithelial ovarian cancer. Germline mutations were found in 43% of the families; 
      BRCA1 mutations were approximately four times more common than BRCA2 mutations.
      The extent of family history of ovarian and breast cancers was strongly
      predictive of BRCA1-mutation status. Segregation analysis suggests that a
      combination of chance clustering of sporadic cases and insensitivity of mutation 
      detection may account for the remaining families; however, the contribution of
      other genes cannot be excluded. We discuss the implications for genetic testing
      and clinical management of familial ovarian cancer arising from the data
      presented in these studies.
FAU - Gayther, S A
AU  - Gayther SA
AD  - Department of Oncology, Cancer Research Campaign, Strangeways Research
      Laboratory, Cambridge, United Kingdom. simon.gayther@srl.cam.ac.uk
FAU - Russell, P
AU  - Russell P
FAU - Harrington, P
AU  - Harrington P
FAU - Antoniou, A C
AU  - Antoniou AC
FAU - Easton, D F
AU  - Easton DF
FAU - Ponder, B A
AU  - Ponder BA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (BRCA2 Protein)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - BRCA2 Protein
MH  - Breast Neoplasms/epidemiology/genetics/pathology
MH  - DNA Mutational Analysis
MH  - Epithelial Cells/metabolism/pathology
MH  - Exons/genetics
MH  - Female
MH  - Genes, BRCA1/*genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genetic Testing
MH  - Germ-Line Mutation/*genetics
MH  - Haplotypes/genetics
MH  - Humans
MH  - Likelihood Functions
MH  - Middle Aged
MH  - Models, Genetic
MH  - Neoplasm Proteins/*genetics
MH  - Ovarian Neoplasms/epidemiology/*genetics/pathology
MH  - Prevalence
MH  - Transcription Factors/*genetics
PMC - PMC1288234
EDAT- 1999/09/16 09:00
MHDA- 2000/10/07 11:01
CRDT- 1999/09/16 09:00
PHST- 1999/09/16 09:00 [pubmed]
PHST- 2000/10/07 11:01 [medline]
PHST- 1999/09/16 09:00 [entrez]
AID - S0002-9297(07)62604-4 [pii]
AID - 10.1086/302583 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Oct;65(4):1021-9. doi: 10.1086/302583.