Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET

被引：39

作者：

Kasprzak, L

Nolet, S

Gaboury, L

Pavia, C

Villabona, C

Rivera-Fillat, F

Oriola, J

Foulkes, WD ^{[1
]}

机构：

[1] McGill Univ, Dept Oncol, Program Canc Genet, Montreal, PQ H3A 2T5, Canada

[2] McGill Univ, Dept Human Genet, Montreal, PQ H3A 2T5, Canada

[3] CHU Montreal, Dept Pathol, Montreal, PQ, Canada

[4] Hosp Clin Barcelona, IDIBAPS, Serv Hormonol, E-08036 Barcelona, Spain

[5] Univ Barcelona, Hosp St Joan De Deu, Secc Endocrinol, E-08036 Barcelona, Spain

[6] Hosp Principes Espana, CSU Bellvitge, Serv Endocrinol, Barcelona, Spain

[7] McGill Univ, Montreal Gen Hosp, Ctr Hlth, Res Inst,Dept Med, Montreal, PQ H3G 1A4, Canada

来源：

关键词：

D O I：

10.1136/jmg.38.11.784

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：784 / 787

页数：4

共 16 条

[1] BOLINO A, 1995, ONCOGENE, V10, P2415
[2] Fattoruso O, 1998, HUM MUTAT, pS167
[3] Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ATG) mutation
Feldman, GL
Edmonds, MW
Ainsworth, PJ
Schuffenecker, I
Lenoir, GM
Saxe, AW
Talpos, GB
Roberson, J
Petrucelli, N
Jackson, CE
[J]. SURGERY, 2000, 128 (01) : 93 - 98
[4] Fink M, 1996, INT J CANCER, V69, P312, DOI 10.1002/(SICI)1097-0215(19960822)69:4<312::AID-IJC13>3.3.CO
[5] 2-G
[6] Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation
Gimm, O
Neuberg, DS
Marsh, DJ
Dahia, PLM
Cuong, HV
Raue, F
Hinze, R
Dralle, H
Eng, C
[J]. ONCOGENE, 1999, 18 (06) : 1369 - 1373
[7] Multiple endocrine neoplasia type 2 and RET:: from neoplasia to neurogenesis
Hansford, JR
Mulligan, LM
[J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (11) : 817 - 827
[8] A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations
Iwashita, T
Murakami, H
Kurokawa, K
Kawai, K
Miyauchi, A
Futami, H
Qiao, S
Ichihara, M
Takahashi, M
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 268 (03) : 804 - 808
[9] INCIDENCE OF PROMINENT CORNEAL NERVES IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A
KINOSHITA, S
TANAKA, F
OHASHI, Y
IKEDA, M
TAKAI, S
[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1991, 111 (03) : 307 - 311
[10] Miyauchi A, 1999, JPN J CANCER RES, V90, P1