Abstract：
:The existence of two subgroups of BRCA1-associated breast cancer (BC) families has been recently posited: the first with highly proliferating tumors, and the second composed of cases with a low proliferation rate. Our aim was to test whether the proliferation rate of BRCA1-associated breast cancers was affected by the site of the germ line mutation in the BRCA1 gene. We analyzed the distribution of the mitotic index, a histoprognostic grade component shown to segregate in families, matching for germ line mutation location in a series of 28 breast cancers from 20 kindreds. We observed a prevalence of highly proliferating tumors when the mutation occurs in the two terminal conserved domains of the BRCA1 protein, ie., in the amino and carboxyl termini (P = 0.0024). Our data provide evidence for a genotype-phenotype correlation and along with their strong conservation during evolution argue for the importance of these two regions in the control of mammary cell growth.
journal_name
Cancer Resjournal_title
Cancer researchauthors
Sobol H,Stoppa-Lyonnet D,Bressac-de-Paillerets B,Peyrat JP,Kerangueven F,Janin N,Noguchi T,Eisinger F,Guinebretiere JM,Jacquemier J,Birnbaum Dsubject
Has Abstractpub_date
1996-07-15 00:00:00pages
3216-9issue
14eissn
0008-5472issn
1538-7445journal_volume
56pub_type
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