BRCA1 mutations and phenotype

Grade, K; Höffken, K.; Kath, R.; Nothnagel, Anita; Bender, E.; Scherneck, Siegfried

doi:10.1007/bf01212618

Cited by 9 publications

(7 citation statements)

References 12 publications

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“…While BRCA1 mutations are known to be distributed throughout the coding regions of the gene (Xu and Solomon, 1996;Rahman and Stratton, 1998), some specific mutations have been proposed to be associated with disease severity and age at diagnosis (Grade et al, 1997), and a significant correlation between mutation site and the ratio of breast to ovarian cancer incidence within families has been reported, with some mutations being more strongly associated with ovarian rather than breast cancer (Gayther et al, 1995). 1 In Thailand, a country with incomplete national cancer registry covering the whole region, estimates of cancer incidence have been based on the five population-based registries.…”

Section: Introductionmentioning

confidence: 99%

TheBRCA13′-UTR: 5711+421T/T_5711+1286T/T Genotype Is a Possible Breast and Ovarian Cancer Risk Factor

Pongsavee

Yamkamon

Dakeng

et al. 2009

Genetic Testing and Molecular Biomarkers

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Section: Introductionmentioning

confidence: 99%

TheBRCA13′-UTR: 5711+421T/T_5711+1286T/T Genotype Is a Possible Breast and Ovarian Cancer Risk Factor

Pongsavee

Yamkamon

Dakeng

et al. 2009

Genetic Testing and Molecular Biomarkers

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“…These are spread throughout the gene and include missense and truncating mutations or genomic deletions. Although stable expression of the mutant peptides has not been shown, dierent genotype-phenotype correlations have been described (Gayther et al, 1995;Grade et al, 1997;Sobol et al, 1996Sobol et al, , 1997. The latter suggests that these proteins are stably expressed and may have a modulating eect on tumorigenesis.…”

Section: Introductionmentioning

confidence: 99%

A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage

et al. 2001

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A mouse model with a targeted mutation in the 3' end of the endogenous Brca1 gene, Brca1 1700T, was generated to compare the phenotypic consequences of truncated Brca1 proteins with other mutant Brca1 models reported in the literature to date. Mice heterozygous for the Brca1 1700T mutation do not show any predisposition to tumorigenesis. Treatment of these mice with ionizing radiation or breeding with Apc, Msh-2 or Tp53 mutant mouse models did not show any change in the tumor phenotype. Like other Brca1 mouse models, the Brca1 1700T mutation is embryonic lethal in homozygous state. However, homozygous Brca11700T embryos reach the headfold stage but are delayed in their development and fail to turn. Thus, in contrast to Brca1 null models, the mutant embryos do not undergo growth arrest leading to a developmental block at 6.5 dpc, but continue to proliferate and dierentiate until 9.5 dpc. Homozygous embryos die between 9.5 ± 10.5 dpc due to massive apoptosis throughout the embryo. These results indicate that a C-terminal truncating Brca1 mutation removing the last BRCT repeat has a dierent eect on normal cell function than does the complete absence of Brca1. Oncogene (2001) 20, 2544 ± 2550.

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“…First, different mutations in BRCA1/2 may confer distinct cancer risks. Specific mutation may be associated with disease severity [Grade et al, 1997] or may preferentially predispose to ovarian rather than breast cancer [Gayther et al, 1995[Gayther et al, , 1997. Gayther et al [1995] provided evidence that mutations in BRCA1 that lie 3Ј of nucleotides 4200 -4400 are associated with a 20% lower ovarian cancer risk than mutations 5Ј of that location.…”

Section: Cancer Risk Modifiersmentioning

confidence: 99%

Inherited predisposition and breast cancer: Modifiers of BRCA1/2‐associated breast cancer risk

Rebbeck

2002

Environ and Mol Mutagen

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Germline mutations in the BRCA1 and BRCA2 (BRCA1/2) genes explain a substantial proportion of hereditary breast and ovarian cancer. Women who have inherited a mutation in one of these genes are at increased risk to develop breast and/or ovarian cancer, although there is variability in the manifestation of tumors by age and site. This variability may be explained, in part, by the BRCA1/2 mutation type or location. However, it is also possible that risk-modifying factors exist that explain interindividual variability in cancer risk. These factors include genes at other loci and endogenous or exogenous exposures. A more complete understanding of factors that modify cancer risk in BRCA1 and BRCA2 mutation carriers may help to refine estimates of cancer risk. A number of exposures, including reproductive history and exogenous hormone use, have been implicated as BRCA1/2-associated cancer risk modifiers. Similarly, genes involved in hormone metabolism, including the AIB1 and AR genes, have been linked with altered breast cancer risk. Therefore, although germline BRCA1/2 mutations raise a woman's breast and ovarian cancer risk, other factors may interact with BRCA1/2 mutations to modulate this risk. Environ. Mol. Mutagen. 39:228 -234, 2002.

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BRCA1 mutations and phenotype

Cited by 9 publications

References 12 publications

TheBRCA13′-UTR: 5711+421T/T_5711+1286T/T Genotype Is a Possible Breast and Ovarian Cancer Risk Factor

TheBRCA13′-UTR: 5711+421T/T_5711+1286T/T Genotype Is a Possible Breast and Ovarian Cancer Risk Factor

A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage

Inherited predisposition and breast cancer: Modifiers of BRCA1/2‐associated breast cancer risk

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