𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2

✍ Scribed by Thomas A. Buchholz; Xifeng Wu; Abu Hussain; Susan L. Tucker; Gordon B. Mills; Bruce Haffty; Sherry Bergh; Michael Story; Fady B. Geara; William A. Brock

Publisher
John Wiley and Sons
Year
2002
Tongue
French
Weight
409 KB
Volume
97
Category
Article
ISSN
0020-7136

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The BRCA1 and BRCA2 gene products are thought to play important roles in the processing of DNA damage. To assess whether heterozygous mutations in these genes are associated with cellular radiosensitivity, we performed an in vitro radiation clonogenic survival assay on dermal fibroblasts obtained from 8 sequence‐proven BRCA heterozygotes (6 BRCA1, 2 BRCA2). These data were compared to results obtained from a previous set of 17 prospectively studied cancer patients who had a negligible risk for a BRCA mutation. In addition, results from radiation‐induced chromatid break assay performed on lymphocytes obtained from 9 BRCA heterozygotes (8 BRCA1, 1 BRCA2) were compared to results from a control group of 18 women with no cancer history. Results from both assays suggested that cells containing a heterozygous mutation in BRCA1 or BRCA2 were more radiosensitive than controls. For the fibroblast studies, the mean surviving fraction at 2 Gy (SF2) for carriers was 0.279 vs. 0.348 for the control set (p = 0.007). For the lymphocyte studies, the mean number of chromatid breaks after 125 cGy of radiation was 0.79 breaks per cell for the carriers vs. 0.45 for the controls (p = 0.0005). There was no apparent difference in the radiosensitivity between cells with BRCA1 vs. BRCA2 mutations (p = 0.769), although the small sample size minimizes the certainty of this observation. These preliminary results are consistent with a relationship between a germline mutation in BRCA1 or BRCA2 and a hypersensitivity to radiation. This phenotype could possibly predispose to an increased risk of radiation‐induced mutagenesis and carcinogenesis. © 2001 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

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

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,

Prophylactic salpingo-oophorectomy in a
Prophylactic salpingo-oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation
✍ Fatima Laki; Youlia M. Kirova; Pascale This; for the IC-BOCRSG ; Corinne Planche 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB

## Abstract ## BACKGROUND. Prophylactic salpingo‐oophorectomy (SO), which is recommended in __BRCA1/2__ mutation carriers, still needs to be reappraised. ## METHODS. In all, 89 __BRCA1/BRCA2__ mutation carriers underwent SO between 1994–2004. Past medical and familial history, SO, results and su

Prophylactic salpingo-oophorectomy in a
Prophylactic salpingo-oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation
✍ Niraj N. Mahajan 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB

Prophylactic Salpingo-Oophorectomy in a Series of 89 Women Carrying a BRCA1 or a BRCA2 Mutation I read with great interest the article published in Cancer by Laki et al. 1 and strongly support that prophylactic salpingo-oophorectomy (SO) is an important option for BRCA1/2 mutation carriers, as asymp