BRCA mutation

BRCABRCA'' mutationBRCA1/2BRCA mutatedBRCA mutationsBRCA'' mutationsBRCA-relatedBRCA1BRCA1 or BRCA2BRCA1 or BRCA2 mutation
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes.wikipedia
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BRCA1

BRCA geneFANCSBABAM1
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes.
If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer.

BRCA2

FANCD1breast cancer 2BRCA 2
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes.
If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer.

Prostate cancer

prostatehormone-refractory prostate cancermetastatic prostate cancer
However, BRCA mutations can increase the risk of other cancers, such as colon cancer, pancreatic cancer, and prostate cancer.
An increased risk is associated with the BRCA mutations.

Breast cancer

breastbreast carcinomabreast cancers
Only 5-10% of breast cancer cases in women are attributed to BRCA1 and BRCA2 mutations (with BRCA1 mutations being slightly more common than BRCA2 mutations), but the impact on women with the gene mutation is more profound. High-risk mutations, which disable an important error-free DNA repair process (homology directed repair), significantly increase the person's risk of developing breast cancer, ovarian cancer and certain other cancers.
This includes those who carry the BRCA1 and BRCA2 gene mutation.

Breast cancer screening

breast densitybreastscreening
Compared to that, a woman with a high-risk BRCA1 mutation, if she had breast cancer screening but no prophylactic medical or surgical intervention, would have only 59% chance to reach age 70, twenty-five percentage points lower than normal.
Earlier, more aggressive, and more frequent screening is recommended for women at particularly high risk of developing breast cancer, such as those with a confirmed BRCA mutation, those who have previously had breast cancer, and those with a strong family history of breast and ovarian cancer.

Hereditary breast–ovarian cancer syndrome

hereditary breast-ovarian cancer syndromeHereditary Breast and Ovarian CancerHereditary Breast and Ovarian Cancer syndrome
Harmful mutations in these genes may produce a hereditary breast-ovarian cancer syndrome in affected persons.
* BRCA mutations: Harmful mutations in the BRCA1 and BRCA2 genes can produce very high rates of breast and ovarian cancer, as well as increased rates of other cancers.

Association for Molecular Pathology v. Myriad Genetics, Inc.

Association for Molecular Pathology v. Myriad GeneticsAMP v. Myriad GeneticsAssociation for Molecular Pathology v. U.S. Patent and Trademark Office
Myriad's business model of exclusively offering the diagnostic test led to Myriad growing from being a startup in 1994 to being a publicly traded company with 1200 employees and about $500M in annual revenue in 2012; it also led to controversy over high prices and the inability to get second opinions from other diagnostic labs, which in turn led to the landmark Association for Molecular Pathology v. Myriad Genetics lawsuit.
Myriad Genetics was founded in 1994 as a startup company out of the University of Utah, by scientists involved in the hunt for the BRCA genes.

Oophorectomy

ovariotomyovariectomyovariectomized
Women with a breast cancer associated with a BRCA mutation have up to a 40% probability of developing a new primary breast cancer within 10 years following initial diagnosis if they did not receive tamoxifen treatment or have an oophorectomy.
Special indications include several groups of women with substantially increased risk of ovarian cancer, such as high-risk BRCA mutation carriers and women with endometriosis who also suffer from frequent ovarian cysts.

Breast self-examination

breast exambreast examinationbreast self-exam
Unlike other men, men with a BRCA mutation, especially a BRCA2 mutation, may benefit from professional and self breast exams.
Among women with high-risk BRCA mutations, about 10% said that performing breast self-examination increased their anxiety.

Preimplantation genetic diagnosis

preimplantation genetic screeningpre-implantation genetic diagnosisPGD
If both parents are carriers of a BRCA mutation, then pre-implantation genetic diagnosis is sometimes used to prevent the birth of a child with BRCA mutations.
For example, in predisposition syndromes, such as BRCA mutations which predispose the individual to breast cancer, the outcomes are unclear.

Hysterectomy

hysterectomiesradical hysterectomyvaginal hysterectomy
The surgery is often done in conjunction with a hysterectomy (surgical removal of the uterus) and sometimes a cervicectomy (surgical removal of the cervix), especially in women who want to take tamoxifen, which is known to cause uterine cancer, or who have uterine fibroids.

Cancer syndrome

hereditary cancerhereditary cancershereditary cancer syndromes
BRCA mutation carriers have a higher than average risk of this common cancer, but the risk is not as high as in some other hereditary cancers.

Primary peritoneal carcinoma

peritoneal cancerprimary peritoneal cancerperitoneal
Statistics for BRCA-related ovarian cancer typically encompass not only cancer of the ovaries themselves, but also peritoneal cancer and the very rare, but somewhat easier to detect, cancer of the Fallopian tubes.
Although the precise causes are not known, a link with certain variants of BRCA1/2 has been described.

Gene

genesnumber of genesgene sequence
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes.

Homology directed repair

homology-directed repairhomology repairhomologous recombinational repair (HRR)
High-risk mutations, which disable an important error-free DNA repair process (homology directed repair), significantly increase the person's risk of developing breast cancer, ovarian cancer and certain other cancers.

Ovarian cancer

ovarianovarian carcinomaovary
High-risk mutations, which disable an important error-free DNA repair process (homology directed repair), significantly increase the person's risk of developing breast cancer, ovarian cancer and certain other cancers.

X-inactivation

X chromosome inactivationX inactivationX-chromosome inactivation
Why BRCA1 and BRCA2 mutations lead preferentially to cancers of the breast and ovary is not known, but lack of BRCA1 function seems to lead to non-functional X-chromosome inactivation.

Genetic carrier

carrycarrierscarrier
Each child of a genetic carrier, regardless of sex, has a 50% chance of inheriting the mutated gene from the parent who carries the mutation.

Colorectal cancer

colon cancerbowel cancerintestinal cancer
However, BRCA mutations can increase the risk of other cancers, such as colon cancer, pancreatic cancer, and prostate cancer.

Pancreatic cancer

pancreaticpancreaspancreatic carcinoma
However, BRCA mutations can increase the risk of other cancers, such as colon cancer, pancreatic cancer, and prostate cancer.

Biological patent

gene patentpatentedgenetic patent
Methods to diagnose the likelihood of a patient with mutations in BRCA1 and BRCA2 getting cancer were covered by patents owned or controlled by Myriad Genetics.

Myriad Genetics

D'Arcy v Myriad Genetics Inc Myriad Genetics IncMyriad Genetics case
Methods to diagnose the likelihood of a patient with mutations in BRCA1 and BRCA2 getting cancer were covered by patents owned or controlled by Myriad Genetics.

Tamoxifen

NolvadexTamoxifen citratehydroxytamoxifen
Women with a breast cancer associated with a BRCA mutation have up to a 40% probability of developing a new primary breast cancer within 10 years following initial diagnosis if they did not receive tamoxifen treatment or have an oophorectomy. The surgery is often done in conjunction with a hysterectomy (surgical removal of the uterus) and sometimes a cervicectomy (surgical removal of the cervix), especially in women who want to take tamoxifen, which is known to cause uterine cancer, or who have uterine fibroids.

Ovary

ovariesovarianOvarian tissue
Statistics for BRCA-related ovarian cancer typically encompass not only cancer of the ovaries themselves, but also peritoneal cancer and the very rare, but somewhat easier to detect, cancer of the Fallopian tubes.

Fallopian tube

fallopian tubesuterine tubeIsthmus of fallopian tube
Statistics for BRCA-related ovarian cancer typically encompass not only cancer of the ovaries themselves, but also peritoneal cancer and the very rare, but somewhat easier to detect, cancer of the Fallopian tubes.