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  2. BRCA mutation - Wikipedia

    en.wikipedia.org/wiki/BRCA_mutation

    Women with harmful mutations in either BRCA1 or BRCA2 have a risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal. [3] The risk of breast and ovarian cancer is higher for women with a high-risk BRCA1 mutation than with a BRCA2 mutation. Having a high-risk mutation ...

  3. Hereditary breast–ovarian cancer syndrome - Wikipedia

    en.wikipedia.org/wiki/Hereditary_breast–ovarian...

    People with BRCA1 and BRCA2 mutations are recommended to have a transvaginal ultrasound 1-2 times per year. Screening with CA-125 is also recommended.. Prophylactic salpingo-oophorectomy (removal of the ovaries and fallopian tubes to prevent cancer) is recommended at age 35-40 for people with BRCA1 mutations and at age 40-45 for people with BRCA2 mutations. [6]

  4. BRCA1 - Wikipedia

    en.wikipedia.org/wiki/BRCA1

    Only about 3%–8% of all women with breast cancer carry a mutation in BRCA1 or BRCA2. [70] Similarly, BRCA1 mutations are only seen in about 18% of ovarian cancers (13% germline mutations and 5% somatic mutations). [71] Thus, while BRCA1 expression is low in the majority of these cancers, BRCA1 mutation is not a major cause of reduced ...

  5. HRDetect - Wikipedia

    en.wikipedia.org/wiki/HRDetect

    Within this cohort, 22 patients were known to carry germline BRCA1/BRCA2 mutations. BRCA1/BRCA2- deficiency mutational signatures were found in more breast cancer patients than previously known. This model was able to identify 124 (22%) breast cancer patients showing BRCA1/2 mutational signatures in this cohort of 560 samples.

  6. Medical genetics of Jews - Wikipedia

    en.wikipedia.org/wiki/Medical_genetics_of_Jews

    BRCA1 or BRCA2: 1/100 and 1/75, respectively Canavan disease: Endocrinology, neurology Autosomal recessive ASPA: 1/60 Congenital deafness: Neurology, otorhinolaryngology, audiology Autosomal recessive GJB2 or GJB6: 1/25 Cystic fibrosis: Pulmonology, hepatology Autosomal recessive CFTR: 1/25 Haemophilia C: Hematology Autosomal recessive F11: 1/ ...

  7. Pre- and post-test probability - Wikipedia

    en.wikipedia.org/wiki/Pre-_and_post-test_probability

    Also, studies on Ashkenazi Jews has indicated that a mutation in BRCA1 confers a relative risk of 21.6 of developing breast cancer in women under 40 years of age, and a mutation in BRCA2 confers a relative risk of 3.3 of developing breast cancer in women under 40 years of age. [10]

  8. Ovarian cancer - Wikipedia

    en.wikipedia.org/wiki/Ovarian_cancer

    BRCA1 and BRCA2 are essential for homologous recombination DNA repair, and germline mutations in these genes are found in about 15% of women with ovarian cancer. [28] The most common mutations in BRCA1 and BRCA2 are the frameshift mutations that originated in a small founding population of Ashkenazi Jews. [29]

  9. Triple-negative breast cancer - Wikipedia

    en.wikipedia.org/wiki/Triple-negative_breast_cancer

    Triple-negative breast cancer comprises 15–20% of all breast cancer cases [3] and affects more young women or women with a mutation in the BRCA1 gene than other breast cancers. [4] Triple-negative breast cancers comprise a very heterogeneous group of cancers. TNBC is the most challenging breast cancer type to treat. [5]

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