Factors predicting the occurrence of germline mutations in candidate genes among patients with cutaneous malignant melanoma from South Italy

Casula, Milena; Colombino, Maria; Satta, Maria Paola; Cossu, Antonio; Lissia, Amelia; Budroni, Mario; Simeone, Ester; Calemma, Rosa; Loddo, C; Caracò, Corrado; Mozzillo, Nicola; Daponte, Antonio; Comella, G.; Canzanella, Sergio; Guida, Michele; Castello, Giuseppe; Ascierto, Paolo A.; Palmieri, Giuseppe

doi:10.1016/j.ejca.2006.07.017

Cited by 27 publications

(25 citation statements)

References 33 publications

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“…Another study demonstrated two BRCA2 mutations in 557 Italian patients with melanoma, though the mutation variants in these cases were unknown. 52 Additionally, one study of European patients with primary breast cancer and melanoma, unselected for family history, identified three of 82 patients (3·7%) with deleterious BRCA mutations (one BRCA2 and two BRCA1 ). 53 Six additional BRCA1 /2 mutations of unknown significance were reported.…”

Section: Melanomamentioning

confidence: 99%

Skin cancer risk inBRCA1/2mutation carriers

et al. 2015

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Summary Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concerned about their risk for other cancers, including skin cancer. Research evaluating the association between BRCA1/2 mutations and skin cancer is limited and has produced inconsistent results. Herein, we review the current literature on the risk of melanoma and nonmelanoma skin cancers in BRCA1/2 mutation carriers. No studies have shown a statistically significant risk of melanoma in BRCA1 families. BRCA2 mutations have been linked to melanoma in large breast and ovarian cancer families, though a statistically significant elevated risk was reported in only one study. Five additional studies have shown some association between BRCA2 mutations and melanoma, while four studies did not find any association. With respect to nonmelanoma skin cancers, studies have produced conflicting results. Given the current state of medical knowledge, there is insufficient evidence to warrant increased skin cancer surveillance of patients with a confirmed BRCA1/2 mutation or a family history of a BRCA1/2 mutation, in the absence of standard risk factors. Nonetheless, suspected BRCA1/2 mutation carriers should be counselled about skin cancer risks and may benefit from yearly full skin examinations.

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Section: Melanomamentioning

confidence: 99%

Skin cancer risk inBRCA1/2mutation carriers

et al. 2015

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“…The early onset of malignancy suggests a predominance of genetic over environmental factors in tumour development similar to that observed in well-characterized, high-risk cancer families. In case of melanoma, the median age at diagnosis of r 40 years appears to be one of the factors that predicts the presence of CDKN2A mutations in the Western European, Australian and North American populations (Casula et al, 2007;Goldstein et al, 2007). Inherited mutations in CDKN2A among early-onset pancreatic cancer patients have been deemed to be infrequent (Lal et al, 2000); however, with a cancer population of only 10 young patients, this result needs to be confirmed.…”

Section: Introductionmentioning

confidence: 67%

Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland

Dębniak¹,

Wetering²,

Scott³

et al. 2008

European Journal of Cancer Prevention

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In this report the contribution of CDKN2A/ARF germline mutations to early-onset cancers of the breast, pancreas and malignant melanoma was examined. We screened 66 women with breast cancer diagnosed at age 30 and below, 72 melanoma patients with the median age at diagnosis < or = 40 years and 51 pancreatic cancer patients diagnosed under the age of 50 years. In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma.

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“…The use of dHPLC for the detection of germline mutations has been previously described for a number of genes including VHL [15,16], SDHD [17], RET [15,[18][19][20], BRCA1 and BRCA2 [21][22][23], CDH1 [24], NF1 [25], CDKN2A [26], MLH3 [27], hMLH1 and hMSH2 [28,29], MYH [30], APC [31], MEN1 [32][33][34], PTEN [15], HRPT2 [34], and p53 [35,36].…”

Section: Discussionmentioning

confidence: 99%