Abstract
Although the presence of multiple cases of melanoma on the same side of a family is the best predictor of germline CDKN2A mutation, other features (i.e. early age at onset) may be useful to identify carriers. We analysed the records of 682 hospital-based Ligurian melanoma patients. Of these, 238 cases (34 familial, 14 non-familial multiple primary and 190 non-familial single primary melanomas) were consecutively enrolled for screening of the CDKN2A and CDK4 genes. Screening of the 34 familial patients revealed that nine were carriers of the CDKN2A G101W founder mutation. Of the 14 non-familial multiple primary melanoma patients, three carried the G101W founder mutation and one the P48T mutation. For the non-familial patients with a single melanoma, 17 of 190 carried germline CDKN2A mutations, with most (16/17) carrying the G101W Ligurian founder mutation and one a novel single base pair substitution, D74Y. The effect of mutation on age at diagnosis was significant (P=0.012) after correcting for melanoma type (familial or non-familial), number of primaries (single or multiple), gender and disease occurrence (incident or prevalent). Early age at onset may be a good predictor of CDKN2A mutation in Liguria, where the G101W founder mutation is prevalent among melanoma patients, independent of family history.
| Original language | English |
|---|---|
| Pages (from-to) | 443-448 |
| Number of pages | 6 |
| Journal | Melanoma Research |
| Volume | 14 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Dec 2004 |
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Keywords
- CDKN2A
- Early age at onset
- G101W founder mutation
- Liguria
- Melanoma patients
ASJC Scopus subject areas
- Cancer Research
- Dermatology
Cite this
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. / Mantelli, Michela; Pastorino, Lorenza; Ghiorzo, Paola; Barile, Monica; Bruno, William; Gargiulo, Sara; Sormani, Maria Pia; Gliori, Sara; Vecchio, Stefania; Ciotti, Paola; Sertoli, Mario Roberto; Queirolo, Paola; Goldstein, Alisa M.; Bianchi-Scarrà, Giovanna.
In: Melanoma Research, Vol. 14, No. 6, 12.2004, p. 443-448.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients
AU - Mantelli, Michela
AU - Pastorino, Lorenza
AU - Ghiorzo, Paola
AU - Barile, Monica
AU - Bruno, William
AU - Gargiulo, Sara
AU - Sormani, Maria Pia
AU - Gliori, Sara
AU - Vecchio, Stefania
AU - Ciotti, Paola
AU - Sertoli, Mario Roberto
AU - Queirolo, Paola
AU - Goldstein, Alisa M.
AU - Bianchi-Scarrà, Giovanna
PY - 2004/12
Y1 - 2004/12
N2 - Although the presence of multiple cases of melanoma on the same side of a family is the best predictor of germline CDKN2A mutation, other features (i.e. early age at onset) may be useful to identify carriers. We analysed the records of 682 hospital-based Ligurian melanoma patients. Of these, 238 cases (34 familial, 14 non-familial multiple primary and 190 non-familial single primary melanomas) were consecutively enrolled for screening of the CDKN2A and CDK4 genes. Screening of the 34 familial patients revealed that nine were carriers of the CDKN2A G101W founder mutation. Of the 14 non-familial multiple primary melanoma patients, three carried the G101W founder mutation and one the P48T mutation. For the non-familial patients with a single melanoma, 17 of 190 carried germline CDKN2A mutations, with most (16/17) carrying the G101W Ligurian founder mutation and one a novel single base pair substitution, D74Y. The effect of mutation on age at diagnosis was significant (P=0.012) after correcting for melanoma type (familial or non-familial), number of primaries (single or multiple), gender and disease occurrence (incident or prevalent). Early age at onset may be a good predictor of CDKN2A mutation in Liguria, where the G101W founder mutation is prevalent among melanoma patients, independent of family history.
AB - Although the presence of multiple cases of melanoma on the same side of a family is the best predictor of germline CDKN2A mutation, other features (i.e. early age at onset) may be useful to identify carriers. We analysed the records of 682 hospital-based Ligurian melanoma patients. Of these, 238 cases (34 familial, 14 non-familial multiple primary and 190 non-familial single primary melanomas) were consecutively enrolled for screening of the CDKN2A and CDK4 genes. Screening of the 34 familial patients revealed that nine were carriers of the CDKN2A G101W founder mutation. Of the 14 non-familial multiple primary melanoma patients, three carried the G101W founder mutation and one the P48T mutation. For the non-familial patients with a single melanoma, 17 of 190 carried germline CDKN2A mutations, with most (16/17) carrying the G101W Ligurian founder mutation and one a novel single base pair substitution, D74Y. The effect of mutation on age at diagnosis was significant (P=0.012) after correcting for melanoma type (familial or non-familial), number of primaries (single or multiple), gender and disease occurrence (incident or prevalent). Early age at onset may be a good predictor of CDKN2A mutation in Liguria, where the G101W founder mutation is prevalent among melanoma patients, independent of family history.
KW - CDKN2A
KW - Early age at onset
KW - G101W founder mutation
KW - Liguria
KW - Melanoma patients
UR - http://www.scopus.com/inward/record.url?scp=13544259887&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=13544259887&partnerID=8YFLogxK
U2 - 10.1097/00008390-200412000-00002
DO - 10.1097/00008390-200412000-00002
M3 - Article
C2 - 15577313
AN - SCOPUS:13544259887
VL - 14
SP - 443
EP - 448
JO - Melanoma Research
JF - Melanoma Research
SN - 0960-8931
IS - 6
ER -