PMID- 10399947
OWN - NLM
STAT- MEDLINE
DCOM- 19990727
LR  - 20190708
IS  - 0020-7136 (Print)
IS  - 0020-7136 (Linking)
VI  - 82
IP  - 3
DP  - 1999 Jul 30
TI  - Germline brca2 sequence variants in patients with ocular melanoma.
PG  - 325-8
AB  - On the basis, chiefly, of anecdotal reports of cases of ocular melanoma (OM)
      occurring in families with inherited susceptibility to breast cancer due to brca2
      germline mutations, we examined the frequency of brca2 alterations in a series of
      62 ocular melanoma cases. These cases were preferentially selected on the basis
      of reported family history of breast or ovarian cancer, or OM, although the
      series also included a randomly selected set of cases without family history of
      cancer. A total of 7 germline alterations were found, of which 3 were likely to
      be associated with disease. While all 3 deleterious mutations were found in
      patients who also had a personal history of breast cancer, only 1 of the 3
      families had a family history of breast/ovarian cancer or OM. Although germline
      brca2 mutations may account for a small proportion of all OM cases, there may be 
      additional loci that contribute to familial aggregation of OM and to the familial
      association between OM and breast cancer.
FAU - Sinilnikova, O M
AU  - Sinilnikova OM
AD  - International Agency for Research on Cancer, CNRS-UMR5641, Universite Lyon 1,
      France.
FAU - Egan, K M
AU  - Egan KM
FAU - Quinn, J L
AU  - Quinn JL
FAU - Boutrand, L
AU  - Boutrand L
FAU - Lenoir, G M
AU  - Lenoir GM
FAU - Stoppa-Lyonnet, D
AU  - Stoppa-Lyonnet D
FAU - Desjardins, L
AU  - Desjardins L
FAU - Levy, C
AU  - Levy C
FAU - Goldgar, D
AU  - Goldgar D
FAU - Gragoudas, E S
AU  - Gragoudas ES
LA  - eng
PT  - Clinical Trial
PT  - Controlled Clinical Trial
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Int J Cancer
JT  - International journal of cancer
JID - 0042124
RN  - 0 (Neoplasm Proteins)
SB  - IM
MH  - Eye Neoplasms/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genetic Testing/*methods
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Melanoma/*genetics
MH  - Middle Aged
MH  - Neoplasm Proteins/*genetics
EDAT- 1999/07/10 10:00
MHDA- 2000/06/20 09:00
CRDT- 1999/07/10 10:00
PHST- 1999/07/10 10:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/07/10 10:00 [entrez]
AID - 10.1002/(SICI)1097-0215(19990730)82:3<325::AID-IJC3>3.0.CO;2-G [pii]
AID - 10.1002/(sici)1097-0215(19990730)82:3<325::aid-ijc3>3.0.co;2-g [doi]
PST - ppublish
SO  - Int J Cancer. 1999 Jul 30;82(3):325-8. doi:
      10.1002/(sici)1097-0215(19990730)82:3<325::aid-ijc3>3.0.co;2-g.