2000
DOI: 10.1073/pnas.97.17.9603
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Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

Abstract: A significant proportion of familial breast cancers cannot be explained by mutations in the BRCA1 or BRCA2 genes. We applied a strategy to identify predisposition loci for breast cancer by using mathematical models to identify early somatic genetic deletions in tumor tissues followed by targeted linkage analysis. Comparative genomic hybridization was used to study 61 breast tumors from 37 breast cancer families with no identified BRCA1 or BRCA2 mutations. Branching and phylogenetic tree models predicted that l… Show more

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Cited by 152 publications
(125 citation statements)
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“…This is in agreement with our results from 12/13 (92%) 10/13 (77%) 12/13 (92%) Number of families with the probability >10% 67/148 (45%) 42/148 (28%) 63/148 (43%) Mean probability for BRCA 1/2-carriers 53% 41% 55% Mean probability for BRCA 1-carriers 50% 41% 59% Mean probability for BRCA 2-carriers 55% 40% 50% Mean probability for non-BRCA 1/2-carriers 12% 7% 11% 1035 unselected breast cancer patients, where all 15 cases with heavy breast cancer family history were also mutation negative . Other, yet unknown susceptibility genes remain to be identified and may account for a large proportion of breast cancer families (Rebbeck et al, 1996;Serova et al, 1997;Vehmanen et al, 1997b;Ford et al, 1998;Kainu et al, 2000). In 295 breast cancer cases with one affected 1st degree relative only one mutation (BRCA2, 7708 C → T) was found giving the mutation frequency of 0.3%.…”
Section: Mutation Frequencies In Families With Defined Family Historymentioning
confidence: 99%
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“…This is in agreement with our results from 12/13 (92%) 10/13 (77%) 12/13 (92%) Number of families with the probability >10% 67/148 (45%) 42/148 (28%) 63/148 (43%) Mean probability for BRCA 1/2-carriers 53% 41% 55% Mean probability for BRCA 1-carriers 50% 41% 59% Mean probability for BRCA 2-carriers 55% 40% 50% Mean probability for non-BRCA 1/2-carriers 12% 7% 11% 1035 unselected breast cancer patients, where all 15 cases with heavy breast cancer family history were also mutation negative . Other, yet unknown susceptibility genes remain to be identified and may account for a large proportion of breast cancer families (Rebbeck et al, 1996;Serova et al, 1997;Vehmanen et al, 1997b;Ford et al, 1998;Kainu et al, 2000). In 295 breast cancer cases with one affected 1st degree relative only one mutation (BRCA2, 7708 C → T) was found giving the mutation frequency of 0.3%.…”
Section: Mutation Frequencies In Families With Defined Family Historymentioning
confidence: 99%
“…In admixed populations, most mutations appear uniquely in single families only, making the mutation screening laborious and expensive. Furthermore, there is also evidence of other predisposing genes (Ford et al, 1998;Kainu et al, 2000). It is, therefore, important to find the clinical risk factors that could best predict the presence of BRCA1 and BRCA2 mutations, so that the screening could be directed to potential mutation carrier families.…”
mentioning
confidence: 99%
“…3 353 A3G Y42C 38x 2 1 1 yes 3 451 G3C A75P 6x 1 1 yes 10 1199 G3C R324T 0x 1 1 yes 10 1206 C3A S326R 7x 1 1 no 10 1239 C3G N337K 0x 1 1 no 10 1379C3T S384F 12x 2 2 no 10 1570 C3T R448C 1x 1 1 no 10 1613 A3G E462G 9x 1 1 yes 11 2192 C3G P655R 23x 1 1 yes 11 2719 A3G V831I 0x 1 1 48 and for 13q21. 49 In summary, the BRCA1/BRCA2 mutation profile established for the German breast/ovarian cancer population facilitates the application of rapid prescreening strategies. The identified UVs can be characterized in more detail by extended control studies and investigation of the corresponding tumors.…”
Section: Frequencies Of Brca Mutations In German Families and Search mentioning
confidence: 99%
“…Genetic analyses on BRCAX patients identified several chromosomal regions potentially harbouring other breast cancer susceptibility genes. They include 8p12-p21, 10 13q21, 11 and 2q32, 12 however, they were excluded or need to be evaluated with regards to population specificity. 13 There are no comprehensive molecular cytogenetic studies that report characteristic chromosomal imbalances involved in tumour progression in BRCAX patients.…”
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confidence: 99%