Abstract
To estimate the proportion of breast cancer families due to BRCA1 or BRCA2, we performed mutation screening of the entire coding regions of both genes supplemented with linkage analysis of 31 families, 8 containing male breast cancers and 23 site-specific female breast cancer. A combination of protein-truncation test and SSCP or heteroduplex analyses was used for mutation screening complemented, where possible, by the analysis of expression level of BRCA1 and BRCA2 alleles. Six of the eight families with male breast cancer revealed frameshift mutations, two in BRCA1 and four in BRCA2. Although most families with female site-specific breast cancers were thought to be due to mutations in either BRCA1 or BRCA2, we identified only eight mutations in our series of 23 site-specific female breast cancer families (34%), four in BRCA1 and four in BRCA2. According to the posterior probabilities calculated for mutation-negative families, based on linkage data and mutation screening results, we would expect 8-10 site-specific female breast cancer families of our series to be due to neither BRCA1 nor BRCA2. Thus, our results suggest the existence of at least one more major breast cancer-susceptibility gene.
| Original language | English |
|---|---|
| Pages (from-to) | 486-495 |
| Number of pages | 10 |
| Journal | American Journal of Human Genetics |
| Volume | 60 |
| Issue number | 3 |
| State | Published - Mar 1997 |
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All Science Journal Classification (ASJC) codes
- Genetics
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Mutations in BRCA1 and BRCA2 in breast cancer families : Are there more breast cancer-susceptibility genes? / Serova, Olga M.; Mazoyer, Sylvie; Puget, Nadine; Dubois, Valérie; Tonin, Patricia; Shugart, Yin Y.; Goldgar, David; Narod, Steven A.; Lynch, Henry T.; Lenoir, Gilbert M.
In: American Journal of Human Genetics, Vol. 60, No. 3, 03.1997, p. 486-495.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutations in BRCA1 and BRCA2 in breast cancer families
T2 - Are there more breast cancer-susceptibility genes?
AU - Serova, Olga M.
AU - Mazoyer, Sylvie
AU - Puget, Nadine
AU - Dubois, Valérie
AU - Tonin, Patricia
AU - Shugart, Yin Y.
AU - Goldgar, David
AU - Narod, Steven A.
AU - Lynch, Henry T.
AU - Lenoir, Gilbert M.
PY - 1997/3
Y1 - 1997/3
N2 - To estimate the proportion of breast cancer families due to BRCA1 or BRCA2, we performed mutation screening of the entire coding regions of both genes supplemented with linkage analysis of 31 families, 8 containing male breast cancers and 23 site-specific female breast cancer. A combination of protein-truncation test and SSCP or heteroduplex analyses was used for mutation screening complemented, where possible, by the analysis of expression level of BRCA1 and BRCA2 alleles. Six of the eight families with male breast cancer revealed frameshift mutations, two in BRCA1 and four in BRCA2. Although most families with female site-specific breast cancers were thought to be due to mutations in either BRCA1 or BRCA2, we identified only eight mutations in our series of 23 site-specific female breast cancer families (34%), four in BRCA1 and four in BRCA2. According to the posterior probabilities calculated for mutation-negative families, based on linkage data and mutation screening results, we would expect 8-10 site-specific female breast cancer families of our series to be due to neither BRCA1 nor BRCA2. Thus, our results suggest the existence of at least one more major breast cancer-susceptibility gene.
AB - To estimate the proportion of breast cancer families due to BRCA1 or BRCA2, we performed mutation screening of the entire coding regions of both genes supplemented with linkage analysis of 31 families, 8 containing male breast cancers and 23 site-specific female breast cancer. A combination of protein-truncation test and SSCP or heteroduplex analyses was used for mutation screening complemented, where possible, by the analysis of expression level of BRCA1 and BRCA2 alleles. Six of the eight families with male breast cancer revealed frameshift mutations, two in BRCA1 and four in BRCA2. Although most families with female site-specific breast cancers were thought to be due to mutations in either BRCA1 or BRCA2, we identified only eight mutations in our series of 23 site-specific female breast cancer families (34%), four in BRCA1 and four in BRCA2. According to the posterior probabilities calculated for mutation-negative families, based on linkage data and mutation screening results, we would expect 8-10 site-specific female breast cancer families of our series to be due to neither BRCA1 nor BRCA2. Thus, our results suggest the existence of at least one more major breast cancer-susceptibility gene.
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M3 - Article
VL - 60
SP - 486
EP - 495
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 3
ER -