Table 2.

Retrospective cohort studies evaluating the risk of cutaneous melanoma in BRCA1 families

Study	Patient demographic	Study design	Method of obtaining cancer status	Follow-up	Sample size of cohort	RR	95% CI	P-value
Thompson 200234	Western Europe and North America	Cohort: individuals from 699 BRCA1 families ascertained by the Breast Cancer Linkage Consortium. Subjects included tested mutation carriers, patients with ovarian cancer, male patients with breast cancer, women diagnosed with breast cancer at < 60 years and first-degree relatives of individuals in any of these categories Control: compared with incidence in the general population	ICD codes from medical record. Histological confirmation was available for some but not all cases	1960–1999	11 847	1·11	0·58–2·15	0·7
Moran 201235	North West and West Midlands of England	Cohort: patients in a BRCA1 family who tested positive for a mutation or were obligate carriers based on pedigree analysis Control: compared with incidence in the general population	Cancer diagnosis obtained from patient history. All cancers confirmed by regional cancer registry	1975–2005	1815	0·9	0·1–3·1	NA
Johannsson 199930	Southern Sweden	Cohort: pedigree analysis of large BRCA1/2 families in which index cases were confirmed to have BRCA1/2 mutations by genetic testing. Risk was assessed for the family as a whole, including mutation carriers and nonmutation carriers, though family branches that were proved or suspected of being noncarriers were excluded Control: compared with incidence in the general population	ICD-7 codes from the population-based Census Registry and the Swedish Cancer Registries	1958–1995	1145	1·23	0·15–4·43	0·68
Brose 200233	Michigan and Pennsylvania, USA	Cohort: BRCA1 mutation carriers in 147 families were identified in two academic breast and ovarian cancer risk evaluation clinics. BRCA1 mutation carriers were identified either on the basis of direct genetic testing or as presumed carriers. Presumed carriers were defined as being in the line of descent between two tested mutation carriers or between a mutation carrier and an individual with breast or ovarian cancer Control: compared with incidence in the general population	Personal interview or mailed questionnaire	10 years: patients recruited from 1991 to 1994	483	2·5a	1·1–3·9	NA

RR, relative risk; CI, confidence interval; NA, not available.

^aThis is the cumulative age adjusted risk. The RR was not calculated.