Table 3.

Retrospective cohort studies evaluating the risk of cutaneous melanoma in BRCA2 families

Study	Patient demographic	Study design	Method of obtaining cancer status	Interval of follow-up	Sample size of cohort	RR	95% CI	P-value
Breast Cancer Linkage Consortium 199923	Europe and North America	Cohort: patients with breast cancer at < 60 years, ovarian cancer or male breast cancer and known carriers by typing and obligate carriers Control: compared with incidence in the general population	ICD codes from medical records. 48% of diagnoses confirmed by pathology report, clinical records, or death certificate	1960–1995	3728	2·58	1·28–5·17	0·01
van Asperen 200537	Netherlands	Cohort: men and women from 139 BRCA2 families with 66 different pathogenic mutations. To avoid testing bias, chose not to estimate risk in typed carriers, but rather in male and female family members with a 50% probability of being a carrier Control: compared with incidence in the general population	Mentioned by individual or family member during genetic counselling meeting. Cancer diagnoses were medically and/or pathologically confirmed by pathology reports and clinical records	1960 to date of first cancer diagnosis, death, last contact, last DNA test in the family or age 80	1811	0·1	0·01–0·2	NA
Moran 201235	North West and West Midlands of England	Cohort: patients 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	1526	2·6	1·0–5·7	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	728	2·71	0·56–7·92	0·10