Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-12-20

AUTHORS

Ian J. Seymour, Silvia Casadei, Valentina Zampiga, Simonetta Rosato, Rita Danesi, Emanuela Scarpi, Fabio Falcini, Miria Strada, Nori Morini, Carlo Naldoni, Dino Amadori, Daniele Calistri

ABSTRACT

BRCA1/2 mutation status is of paramount importance to identify families at risk of Hereditary Breast and Ovarian Cancer (HBOC). Most HBOC and BRCA1/2 mutation studies have focused on highly selected sub-populations, and few data are available for large population cohorts. For this reason, as part of a regional cancer prevention strategy in North-Central Italy, we set up a population-based screening programme to identify all resident HBOC families, and to determine their BRCA1/2 mutation status. To date, 44 different BRCA1/2 variants have been identified in 55 HBOC families. Of the seven newly reported mutations, only BRCA1 Q284X is clearly deleterious. The analysis of clinical disease characteristics in relation to age of disease onset and family history showed a difference between BRCA1/2 wild type and mutation carrier families. Interestingly, BRCA1/2 mutations were significantly more common in women who developed breast cancer ≤40 years of age than in BRCA1/2 wild type women (50% vs. 29%, respectively, P = 0.005). The family history selection criteria most likely to indicate the presence of deleterious BRCA1/2 mutations are breast cancer ≤35 years (P = 0.012), two first-degree relatives with breast cancer ≤50 years (P = 0.022), and male breast cancer (P = 0.047). The penetrance of BRCA1/2 alterations in our cohort seems to be aligned with other published results. However, new data interpretations have emerged in relation to the clinical criteria and the presence of deleterious mutations. This information shows that a correct and accurate clinical selection could avoid unnecessary molecular tests and could better address genetic analysis and clinical management. More... »

PAGES

343-349

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10549-007-9846-7

DOI

http://dx.doi.org/10.1007/s10549-007-9846-7

DIMENSIONS

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18092194


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27 schema:description BRCA1/2 mutation status is of paramount importance to identify families at risk of Hereditary Breast and Ovarian Cancer (HBOC). Most HBOC and BRCA1/2 mutation studies have focused on highly selected sub-populations, and few data are available for large population cohorts. For this reason, as part of a regional cancer prevention strategy in North-Central Italy, we set up a population-based screening programme to identify all resident HBOC families, and to determine their BRCA1/2 mutation status. To date, 44 different BRCA1/2 variants have been identified in 55 HBOC families. Of the seven newly reported mutations, only BRCA1 Q284X is clearly deleterious. The analysis of clinical disease characteristics in relation to age of disease onset and family history showed a difference between BRCA1/2 wild type and mutation carrier families. Interestingly, BRCA1/2 mutations were significantly more common in women who developed breast cancer ≤40 years of age than in BRCA1/2 wild type women (50% vs. 29%, respectively, P = 0.005). The family history selection criteria most likely to indicate the presence of deleterious BRCA1/2 mutations are breast cancer ≤35 years (P = 0.012), two first-degree relatives with breast cancer ≤50 years (P = 0.022), and male breast cancer (P = 0.047). The penetrance of BRCA1/2 alterations in our cohort seems to be aligned with other published results. However, new data interpretations have emerged in relation to the clinical criteria and the presence of deleterious mutations. This information shows that a correct and accurate clinical selection could avoid unnecessary molecular tests and could better address genetic analysis and clinical management.
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33 schema:keywords BRCA1/2 alterations
34 BRCA1/2 germ-line mutations
35 BRCA1/2 mutation status
36 BRCA1/2 mutations
37 BRCA1/2 variants
38 HBOC
39 HBOC families
40 Italy
41 age
42 alterations
43 analysis
44 breast
45 breast cancer
46 cancer
47 cancer prevention strategies
48 carrier family
49 characteristics
50 clinical criteria
51 clinical disease characteristics
52 clinical management
53 clinical selection
54 cohort
55 contribution
56 criteria
57 data
58 data interpretation
59 date
60 deleterious BRCA1/2 mutations
61 deleterious mutations
62 differences
63 disease characteristics
64 disease onset
65 family
66 family history
67 first-degree relatives
68 genetic analysis
69 germ-line mutations
70 hereditary breast
71 hereditary breast cancer
72 history
73 importance
74 information
75 interpretation
76 large population cohort
77 male breast cancer
78 management
79 molecular tests
80 mutation carrier families
81 mutation status
82 mutation studies
83 mutations
84 new data interpretation
85 north-central Italy
86 onset
87 ovarian cancer
88 paramount importance
89 part
90 penetrance
91 population cohort
92 population-based screening
93 population-based screening programs
94 presence
95 prevention strategies
96 program
97 reasons
98 region
99 relation
100 relatives
101 results
102 risk
103 screening
104 screening program
105 selection
106 selection criteria
107 status
108 strategies
109 study
110 test
111 types
112 variants
113 wild type
114 women
115 years
116 years of age
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