𝔖 Bobbio Scriptorium
✦   LIBER   ✦

BRCA1 mutations in South African breast and/or ovarian cancer families: Evidence of a novel founder mutation in Afrikaner families

✍ Scribed by Michelle D. Reeves; Tali M. Yawitch; Nerina C. van der Merwe; Hester J. van den Berg; Greta Dreyer; Elizabeth J. van Rensburg

Publisher
John Wiley and Sons
Year
2004
Tongue
French
Weight
89 KB
Volume
110
Category
Article
ISSN
0020-7136

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Germ‐line mutations within BRCA1 are responsible for different proportions of inherited susceptibility to breast/ovarian cancer, and the spectrum of mutations within this gene is often unique to certain populations. At this time, there have been no reports regarding the role of BRCA1 in South African breast and/or ovarian cancer families. We therefore screened 90 South African breast/ovarian cancer families for BRCA1 mutations by means of PCR‐based mutation detection assays. Eighteen families (20%) were identified with BRCA1 disease‐causing mutations. Four Ashkenazi Jewish families were identified with the 185delAG mutation, whereas 2 Afrikaner and 1 Ashkenazi Jewish family were found to harbor the 5382insC mutation. Five of the families (5.56%), all of whom are Afrikaners, were found to carry the novel E881X mutation. Genotype analyses show that these patients share a common ancestor. Genealogic studies have identified 3 possible founding couples for this mutation, all of whom arrived in the Cape from France in the late 1600s. Of the remaining mutations detected, 3 have not been reported previously and include the S451X, 1493delC (detected twice) and 4957insC mutations. © 2004 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Founder BRCA1 mutations and two novel ge
Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland
✍ Marco van der Looij; Barbara Wysocka; Izabela Brozek; Jacek Jassem; Janusz Limon 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 3 views

Germline mutations in the BRCA1 and BRCA2 genes account for the majority of high-risk breast/ovarian cancer families, depending on the population studied. Previously, BRCA1 mutations were described in women from Western Poland. To further characterize the spectrum of BRCA1 mutations and the impact o

Germline mutations of BRCA1 and BRCA2 in
Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families
✍ Hio Chung Kang; Il-Jin Kim; Jae-Hyun Park; Hyuk-Jun Kwon; Yong-Jin Won; Seung Ch 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB 👁 2 views

Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2

A low frequency of non-founder BRCA1 mut
A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast–ovarian cancer families
✍ Catherine M. Phelan; Elaine Kwan; Elaine Jack; Song Li; Cindy Morgan; Jennifer A 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 122 KB 👁 1 views

The 185delAG and 5382insC founder mutations account for the majority of mutations identified in BRCA1 in Ashkenazi Jewish breast and breast-ovarian cancer families. Few non-founder BRCA1 mutations have been identified to date in these families. We initially screened a panel of 245 Ashkenazi Jewish b

A high proportion of founder BRCA1 mutat
A high proportion of founder BRCA1 mutations in Polish breast cancer families
✍ Bohdan Górski; Anna Jakubowska; Tomasz Huzarski; Tomasz Byrski; Jacek Gronwald; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 French ⚖ 71 KB 👁 1 views

## Abstract Three mutations in __BRCA1__ (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast–ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRC

BRCA1 mutation analysis in 83 Spanish br
BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families
✍ Orland Díez; Joan Cortés; Montserrat Domènech; Joan Brunet; Elisabeth Del Río; C 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 French ⚖ 142 KB 👁 2 views

A group of 83 Spanish BC/OC families were analysed for BRCA1 germ-line mutations. Analysis of the entire coding sequence was carried out by SSCP and PTT. We identified 5 frameshift mutations: 185delAG (2 times), 189insTGTC, 1241delAC, and 5537delA and 3 missense mutations in BRCA1: 330A G G, 1240C G