Accuracy of case-reported family history of melanoma in Queensland, Australia

Aitken, Joanne; Youl, Philippa; Green, A; MacLennan, Robert; Martin, Nicholas

doi:10.1097/00008390-199608000-00006

Cited by 47 publications

(36 citation statements)

References 15 publications

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“…Codes referring to the type of proband in case (-control) studies: BR: breast cancer; CBT: childhood brain tumour; CHN: childhood head and neck condition treated with irradiation; COL: Colon cancer; ES: Ewing sarcoma; GLI: glioma; LW: lactating women; Mix: patients with a wide range of malignancies; OV: ovarian cancer; S: soft-tissue and bone sarcoma. Not listed in this table is the study of 1040 reported melanomas in first-degree relatives of melanoma patients by Aitken et al 20 who obtained family history by mailed questionnaires and observed only 60% accuracy.…”

Section: Discussionmentioning

confidence: 99%

Accuracy of family history of cancer: clinical genetic implications

et al. 2000

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Family medical history is the cornerstone of clinical genetic diagnosis and management in cases of familial cancer. The soundness of medical decisions can be compromised if reports by the family on affected relatives are inaccurate. Although very time consuming, family medical histories are therefore routinely verified. To investigate whether such verification is clinically justified, we retrospectively analysed the accuracy of a consecutive series of 383 tumour reports from counsellees on 120 families in our clinic. We evaluated these families for the impact of verification on clinical genetic diagnosis and management. Accuracy according to cancer type showed marked variation, ranging from 93% and 89% for breast cancer and colorectal cancer, respectively, to 42% and 37% for extra-colorectal alimentary tract cancer and uterine cancer. Accuracy was related to the degree of kinship of the affected relative, but not to age and gender of the counsellee, nor to the reason for referral or personal history of cancer. Age at diagnosis and multiple primary tumours were reported accurately in 97% and 94% of cases, respectively. In six out of 120 families verification data changed clinical genetic management, in five of these the genetic risk was reduced. Although verification of all reported cancer cases in a family remains the 'gold standard' for clinical as well as research purposes, verification of reports on breast cancer can be limited without seriously compromising medical decision making. In cases where verification is impossible because medical records are unavailable, findings from studies such as ours may help in interpreting family histories.

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Section: Discussionmentioning

confidence: 99%

Accuracy of family history of cancer: clinical genetic implications

et al. 2000

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“…Approximately 5-12 percent of malignant melanomas develop in individuals with a familial predisposition (MIM# 155601) (Greene and Fraumeni, 1979;Newton et al, 1993;Cutler et al, 1996;Aitken et al, 1996). Some of the familial clusters occur by chance.…”

Section: Introductionmentioning

confidence: 99%

Familial melanoma, pancreatic cancer and germline CDKN2A mutations

Goldstein

2004

Hum. Mutat.

117

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Germline CDKN2A mutations have been observed in approximately 20 percent of familial melanoma kindreds from North America, Europe and Australasia. There is also an increased risk of pancreatic cancer in a subset of families with mutations, however, the precise relationship between the CDKN2A gene and pancreatic cancer remains unknown. The relationships between familial melanoma, pancreatic cancer and germline CDKN2A mutations were examined using published data. There were 67 different CDKN2A mutations in 189 melanoma-prone families. Forty-two families (18 mutations) had pancreatic cancer reported. For families without reported pancreatic cancer, the most common types of mutations were missense (56%), frameshift (12%), and deletions (12%). For families with pancreatic cancer, missense (56%), splicing (17%), and frameshift (11%) mutations were most common. Seventy percent of the mutations were observed only once, while the remainder recurred in different families. Comparison of 147 melanoma-prone families without pancreatic cancer to the 42 families that had pancreatic cancer reported showed no significant differences in the types or locations of mutations. However, there was a significant difference (p=0.002) in the distribution of families across the four ankyrin repeats. This finding primarily resulted from the six most frequent mutations where the distribution of pancreatic cancer varied significantly (p=0

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“…However, the validity of family history data has been shown to be considerably higher for first degree than for more distant relatives, though it too varies by cancer site [40]. A study of reporting of family history of melanoma in Queensland, Australia, first with the family members in question and, if confirmed by them, then through their medical records, found lower rates of agreement [41]. Thus, uncertainty exists about both the reported familial cases and the population rates used in our denominators.…”

Section: Discussionmentioning

confidence: 99%