Genetic Testing for Breast Cancer Predisposition

Gauthier‐Villars, Marion; Gad, Sophie; Caux, Virginie; Pagès, Sabine; Blandy, Cécile; Stoppa‐Lyonnet, Dominique

doi:10.1016/s0039-6109(05)70067-0

Cited by 5 publications

(2 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185) genes are the two major breast cancer genes identified in individuals with hereditary predisposition. Women with mutations in either of these genes have a lifetime risk of breast cancer of 60-85% and a lifetime risk of ovarian cancer of 15-40% (Strewing et al, 1997;Ford et al, 1998) Germline mutations in BRCA2 gene (GI: 4502450) account for the genetic predisposition and increased risk for breast cancer in almost 35% of the families with inherited predisposition to this cancer (Gauthier-Villars et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

BRCA2 gene mutations in Greek patients with familial breast cancer

et al. 2001

View full text Add to dashboard Cite

Family history is a well-recognized risk factor for the development of breast cancer. The isolation of BRCA1 and BRCA2 genes, the two major predisposing genes in familial and to early onset breast and ovarian cancer, has resulted to the identification of a large number of families with mutations in these two genes. Despite the large number of distinct mutations detected in both genes, several mutations have been found to recur in unrelated families of diverse geographical origin. We have analyzed 27 Greek patients with familial breast cancer the majority of those having one first and one second degree relatives affected and 28 patients with sporadic breast cancer for BRCA2 germline mutations. The techniques used were single-strand conformation polymorphism analysis (SSCP) followed by sequencing. Furthermore, the clinical presentation and prognosis of BRCA2 associated breast cancer cases was compared to 20 adequately matched for age and date of diagnosis (within one year ) sporadic breast cancer patients. We identified three novel BRCA2 mutations (3058delA, 6024delTA, and 4147delG) in the ovarian cancer cluster region (OCCR) and one already known (2024del5) germline BRCA2 gene mutation in five different breast cancer families. The 4147delG mutation was detected in two unrelated patients. BRCA2 germline mutations were correlated with early-onset breast cancer RR=4.77 (95% CI: 0.666-34.463). Although patients with BRCA2 germline mutations did not have a distinct histological phenotype they had an improved overall survival (100% vs 65%). Our findings suggest that there is a cluster of novel mutations in exons 10 and 11 in Greek patients with familial breast cancer. These mutations appear to have a milder clinical phenotype when compared to the rest of the study group.

show abstract

Section: Introductionmentioning

confidence: 99%

BRCA2 gene mutations in Greek patients with familial breast cancer

et al. 2001

View full text Add to dashboard Cite

show abstract

“…In the context of high-risk families, one important gene is the BRCA2 gene which was localized to chromosome 13q by linkage analysis in 1994 and cloned in 1995 (Wooster et al 1994(Wooster et al , 1995. Germline mutations in BRCA2 gene (GI: 4502450, OMIM# 600185) account for the genetic predisposition and increased risk for breast cancer in almost 35% of the families with inherited predisposition to this cancer (Gauthier-Villars et al 1999).…”

Section: Introductionmentioning

confidence: 99%