Absence of founder BRCA1 and BRCA2 mutations in coetaneous malignant melanoma patients of Ashkenazi origin

Kadouri, Luna; Temper, Mark; Grenader, Tal; Abeliovich, Dvorah; Hamburger, Tamar; Peretz, Tamar; Lotem, Michal

doi:10.1007/s10689-008-9206-8

Cited by 11 publications

(8 citation statements)

References 23 publications

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“…In 1999, the Breast Cancer Linkage Consortium reported a relative risk of 2.6 for melanoma among BRCA2 carriers, compared to the general population (95% CI: 1.3-5.2) [2]. However, a recent study from Israel failed to find a single carrier of an Ashkenazi founder mutation among 92 patients with melanoma, unselected for family history of cancer [46]. In 2007, Monerrat and colleagues reported on a series of 82 European patients with double primary breast cancer and melanoma, unselected for family history [47].…”

Section: Discussionmentioning

confidence: 99%

BRCA1 and BRCA2 families and the risk of skin cancer

et al. 2010

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BRCA1 and BRCA2 mutation carriers have elevated risks of breast and ovarian cancers. The risks for cancers at other sites remain unclear. Melanoma has been associated with BRCA2 mutations in some studies, however, few surveys have included non-melanoma skin cancer. We followed 2729 women with a BRCA1 or BRCA2 mutation for an average of 5.0 years. These women were asked to report new cases of cancer diagnosed in themselves or in their family. The risks of skin cancer were compared for probands with BRCA1 and BRCA2 mutations. Of 1779 women with a BRCA1 mutation, 29 developed skin cancer in the follow-up period (1.6%). Of the 950 women with a BRCA2 mutation, 28 developed skin cancer (3.0%) (OR = 1.83 for BRCA2 versus BRCA1; 95% CI 1.08-3.10; P = 0.02). The odds ratio for basal cell carcinoma was higher (OR = 3.8; 95% CI 1.5-9.4; P = 0.002). BRCA2 mutation carriers are at increased risk for skin cancer, compared with BRCA1 carriers, in particular for basal cell carcinoma.

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Section: Discussionmentioning

confidence: 99%

BRCA1 and BRCA2 families and the risk of skin cancer

et al. 2010

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“…111 Additionally, one study reviewed the role of BRCA1 and BRCA2 in CMM patients and found that no mutation was present in any of the 92 familial melanoma cases. 112 Li et al 113 reported a significant association between APEX1 and CMM, with an OR of 0.59 (95% CI, 0.42-0.83), but another study by the same authors 114 failed to find an association for XPC.…”

Section: Dna Repairerelated Genesmentioning

confidence: 98%

Germline melanoma susceptibility and prognostic genes: A review of the literature

Ward

Lazovich

Hordinsky

2012

Journal of the American Academy of Dermatology

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“…Given that some studies [61] suggest an increased risk of melanoma in the presence of mutations in this gene, whereas others [62] have been unable to demonstrate this, no sound conclusions can be drawn regarding this gene. Other genes are also being investigated; genome-wide association studies [63–65] have identified several loci that may correlate with increased melanoma risk, but the biological mechanism of many of these has not yet been established.…”

Section: Cutaneous Melanomamentioning

confidence: 99%