𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clustering of cancer-related mutations in a subset of BRCA1 alleles: A study in the Spanish population

✍ Scribed by Miguel de La hoya; Sara Sulleiro; Ana Osorio; Orland Díez; Montserrat Baiget; Javier Benítez; Eduardo Díaz-Rubio; Trinidad Caldés

Publisher
John Wiley and Sons
Year
2002
Tongue
French
Weight
66 KB
Volume
100
Category
Article
ISSN
0020-7136

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We have observed that the frequency of D17S855 short alleles (139 bp and 141 bp) in individuals carrying BRCA1 germline mutations is higher than in controls (54% vs. 31%, p = 0.0004). By unambiguously establishing mutation/D17S855 phase in 18 BRCA1‐positive families, we find that most (11 of 15 different mutations) BRCA1 defects are linked to chromosomes with short alleles (OR = 8.21, 95% CI 1.97–39.32, p = 0.0007). We suggest that BRCA1 mutations are not randomly distributed but clustered in a subset of BRCA1 alleles that can be identified by D17S855 genotyping. Further analysis involving a larger set of mutations and different populations are needed to clarify the relevance of this unexpected finding. © 2002 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Recurrent BRCA1 and BRCA2 germline mutat
Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population
✍ Ui-Soon Khoo; Kelvin Y.K. Chan; Annie N.Y. Cheung; W.C. Xue; D.H. Shen; K.Y. Fun 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 2 views

Previous mutational analysis for BRCA gene mutations in sporadic ovarian cancer occurring in Chinese patients in Hong Kong identified six germline BRCA1 mutations and one germline BRCA2 mutation, six of which were novel (Khoo et al., 2000). Knowledge of BRCA gene mutations in the Chinese population

Prevalence of BRCA1 and BRCA2 germline m
Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study
✍ Silvia de Sanjosé; Mélanie Léoné; Victoria Bérez; Angel Izquierdo; Rebeca Font; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 French ⚖ 82 KB 👁 1 views

## Abstract Our aim was to estimate the prevalence of mutations in the __BRCA1__ and __BRCA2__ genes among unselected incident cases of breast cancer in young women. We identified 158 incident breast cancer cases diagnosed before age 46 years in predefined geographic areas in Girona and Tarragona,

Contribution of BRCA1 and BRCA2 germ-lin
Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France
✍ Valerie Bonadona; Olga M. Sinilnikova; Sandrine Chopin; Antonis C. Antoniou; Her 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 2 views

## Abstract The prevalence of __BRCA1/2__ germ‐line mutations was assessed in a prospective population‐based series of early‐onset breast cancer (BC) patients in France, and the usefulness of a clinical assessment of hereditary BC risk, based on multiple criteria including pedigree structure, was e

Frequency of BRCA1/BRCA2 mutations in a
Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases
✍ Kathleen E. Malone; Janet R. Daling; Cassandra Neal; Nicola M. Suter; Cecilia O' 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB 👁 2 views

## BACKGROUND. There is a clear and growing need for data regarding BRCA1 and BRCA2 mutation frequencies among breast carcinoma cases not specifically ascertained on the basis of extreme family history profiles. Toward this end, the authors previously reported results with regard to BRCA1 in breast

Evidence of a founder mutation of BRCA1
Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer
✍ Francesco Baudi; Barbara Quaresima; Cristina Grandinetti; Giovanni Cuda; Concett 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB

Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations in the BRCA1 gene are by far the most recurrent. In this study, we report the identification of a founder mutation in a geographically and historically homogeneous population from Calabria,