BRCA mutation genetics Ask the Chatbot a Question Ask the Chatbot a Question Written by Kara Rogers Kara Rogers is the senior editor of biomedical sciences at Encyclopædia Britannica, where she oversees a range of content from medicine and genetics to microorganisms. She joined Britannica in 2006 and... Kara Rogers Fact-checked by The Editors of Encyclopaedia Britannica Encyclopaedia Britannica's editors oversee subject areas in which they have extensive knowledge, whether from years of experience gained by working on that content or via study for an advanced degree. They write new content and verify and edit content received from contributors. The Editors of Encyclopaedia Britannica Last Updated: Dec 4, 2024 • Article History Table of Contents Table of Contents Ask the Chatbot a Question { "@context": "https://schema.org", "@type": "FAQPage", "mainEntity": [ { "@type" : "Question", "name" : " What are BRCA mutations? ", "acceptedAnswer" : { "@type" : "Answer", "text" : "BRCA mutations are alterations in the BRCA1 or BRCA2 genes that hinder DNA repair and thereby increase cancer risk. These genes normally act as tumor suppressors, being crucial for DNA repair and maintenance of genetic integrity." } } , { "@type" : "Question", "name" : " Who discovered BRCA1 and BRCA2? ", "acceptedAnswer" : { "@type" : "Answer", "text" : "BRCA1 was discovered in 1994 by American geneticist Mary-Claire King. BRCA2 was discovered in 1995 by a team of scientists led by geneticist Michael Stratton at the Institute of Cancer Research in the United Kingdom." } } , { "@type" : "Question", "name" : " How do BRCA mutations affect cancer risk? ", "acceptedAnswer" : { "@type" : "Answer", "text" : "Persons with BRCA mutations face a significantly increased risk of developing breast, ovarian, prostate, or pancreatic cancer. For example, among American women in the general population, about 12 to 13 percent will develop breast cancer, whereas among women with BRCA1 mutations, about 55 to 65 percent will develop the disease." } } , { "@type" : "Question", "name" : " What is the prevalence of BRCA mutations? ", "acceptedAnswer" : { "@type" : "Answer", "text" : "In the general population, BRCA mutations occur in about 1 in 400 individuals. However, they are more frequent in certain groups. For example, in individuals of Ashkenazi Jewish descent, the mutations occur in about 1 in 40 individuals." } } , { "@type" : "Question", "name" : " What are some ethical concerns related to BRCA mutations? ", "acceptedAnswer" : { "@type" : "Answer", "text" : "Ethical concerns surrounding BRCA mutations and screening include a lack of treatment options for individuals with positive screening results, protection of genetic privacy, protection against genetic discrimination, and reproductive decisions that may be viewed as forms of genetic selection." } } ] } Top Questions What are BRCA mutations? BRCA mutations are alterations in the BRCA1 or BRCA2 genes that hinder DNA repair and thereby increase cancer risk. These genes normally act as tumor suppressors, being crucial for DNA repair and maintenance of genetic integrity.

　　Who discovered BRCA1 and BRCA2? BRCA1 was discovered in 1994 by American geneticist Mary-Claire King. BRCA2 was discovered in 1995 by a team of scientists led by geneticist Michael Stratton at the Institute of Cancer Research in the United Kingdom.

　　How do BRCA mutations affect cancer risk? Persons with BRCA mutations face a significantly increased risk of developing breast, ovarian, prostate, or pancreatic cancer. For example, among American women in the general population, about 12 to 13 percent will develop breast cancer, whereas among women with BRCA1 mutations, about 55 to 65 percent will develop the disease.

　　What is the prevalence of BRCA mutations? In the general population, BRCA mutations occur in about 1 in 400 individuals. However, they are more frequent in certain groups. For example, in individuals of Ashkenazi Jewish descent, the mutations occur in about 1 in 40 individuals.

　　What are some ethical concerns related to BRCA mutations? Ethical concerns surrounding BRCA mutations and screening include a lack of treatment options for individuals with positive screening results, protection of genetic privacy, protection against genetic discrimination, and reproductive decisions that may be viewed as forms of genetic selection.

　　BRCA mutation, alteration in one of the BRCA (breast cancer) genes—BRCA1 or BRCA2—that hinders the ability of cells to repair DNA damage, leading to an increased risk of certain cancers. BRCA1 and BRCA2 normally act as tumor suppressor genes, having a critical role in DNA repair and in maintaining the integrity of a cell’s genetic material. Mutations in BRCA1 and BRCA2 are especially common in breast cancer, ovarian cancer, and prostate cancer and occur at increased prevalence in individuals who have a family history of these cancers. A genetic link to breast cancer was first demonstrated in 1990, by American ...(100 of 1349 words)

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