Table 4.

Studies of BRCA1/2 mutations in patients with cutaneous melanoma

Study	Patient demographic	Study design	Sample size	Mutations evaluated	Number of mutations
Debniak 200851	Poland	Screened unselected cutaneous melanoma patients and compared with healthy controls	627: melanoma patients 3819–3868: controls	BRCA2 (T1915M, N991D, N372H), CHEK2	BRCA2 mutations T1915M: 29 (4·6%, OR = 0·8, 95% CI 0·5–1·1, P = 0·2) N991D: 59 (9·4%, OR = 1·8, 95% CI 1·3–2·4, P = 0·002) N372H: 280 (44·7%, OR = 1·1, 95% CI 0·97–1·4, P = 0·1) All mutations: 325 (51·8%, OR = 1·1, 95% CI 0·9–1·2, P = 0·6)
Casula 200752	Italy	Screened unselected melanoma patients	557	BRCA2, CDKN2A, BRAF	BRCA2: 2 (0·4%) CDKN2A: 14 (2·5%) BRAF: 1 (0·2%)
Monnerat 200753	France	Screened patients with a history of breast cancer and melanoma irrespective of family history. Four patients had a family history of melanoma (at least two cases in a first- or second-degree relative). Nine patients had a family history of breast or/and ovarian cancer. Pathological records of the affected relatives were obtained when possible	82	CDKN2A, CDK4, BRCA1, BRCA2, TP53	Deleterious mutations BRCA1: 2 patients; one patient had an Ashkenazi founder mutation BRCA2: 1 patient TP53: 2 patients CDKNA2: 2 patients Unclassified mutations BRCA2: 5 patients BRCA1: 1 patients
Kadouri 200938	Israel	Screened 92 patients of Ashkenazi origin diagnosed with melanoma for three Ashkenazi founder mutations. None of these patients had a relative with melanoma	92	Ashkenazi Jewish Founder BRCA1/2 mutations	None detected
Landi 200457	Italy	Screened 55 families with at least two relatives with melanoma for various genetic mutations. In three families that had more than one case of breast cancer, BRCA2 was sequenced. Cancers other than melanoma were not histologically confirmed	3 families (exact number of patients not available)	BRCA2	None detected

OR, odds ratio; CI, confidence interval.