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BRCA Mutation and PARP Inhibitors
Published in Sherry X. Yang, Janet E. Dancey, Handbook of Therapeutic Biomarkers in Cancer, 2021
Arjun Mittra, James H. Doroshow, Alice P. Chen
Since 2007, American Cancer Society guidelines recommend using MRI in addition to mammography for screening high-risk women. “High risk” includes those with BRCA mutations, first-degree relatives of BRCA carriers who have not been tested for the mutation, and patients with a lifetime risk 20% or greater based on clinical history models [116]. A number of scales have been developed to provide guidance regarding when to test for mutations in BRCA1 or 2, including FHAT, Manchester Score, Frank, Couch and Bayesian Probabilistic Model (BRCAPRO). The most accurate is the BRCAPRO [56, 126]. These scales are based on a family history of breast and ovarian cancers, early age of onset of breast and ovarian cancer in the patient and/or family members, multiple tumors in a single patient, breast cancer in men, cancer-free survival in first- or second-degree relatives, and ethnicity. In 2002 a study using computer modeling showed that chemoprevention and/or surgical prophylaxis can increase the survival of a 30-year-old woman with BRCA mutation by up to 5 years over surveillance alone [42]. Another strategy for determining risk developed by the International Consensus Panel on Breast Cancer Risk includes patients with medullary-type breast cancer and triple-negative and basal-like breast cancers, especially in patients younger than 50 years old [70].
Breast and ovarian cancer
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Whether to offer genetic testing will depend on the likelihood of an individual carrying a pathogenic variant. As previously discussed, this can be determined by one of the readily available computer software packages or by using a numerical scoring system such as the one developed in Manchester. This assigns a score to each potentially BRCA-related cancer, according to the age of diagnosis, and the overall score correlates with the probability of the cancer being associated with a BRCA1 or BRCA2 mutation. Many centres in the United Kingdom have set a Manchester score threshold above which testing will be offered. The advantages of this system include its simplicity and versatility, allowing easy re-calculation during a clinic consultation if the patient's family history turns out to be different from what was thought.
BRCA gene testing in women with high-grade serous ovarian carcinoma
Published in Journal of Obstetrics and Gynaecology, 2021
Bengi Kansu, Jennifer Gardner, Rachel Price-Tate, Oliver Murch, Alex Murray
Our retrospective sample included all women in Wales diagnosed with HGSOC between April 2015 and March 2018 who chose to have BRCA testing, after discussion with their oncologist. As our objectives required no intervention and data collection was retrospective there was no formal registration process for recruitment of participants. The sample was identified from request forms sent to the laboratory with every sample. For each woman, we recorded the location of the cancer centre, where they were treated, whether they were under 60 or 60 and above, any family history of breast and/or ovarian cancer and the outcome of their BRCA test. Where possible Manchester score (first generation) was calculated (a validated scoring systems used by geneticists to determine whether testing should be offered). Patients were categorised as either scoring less than 17 or, 17 or more (a score of 17 would meet traditional criteria for a clinical genetics referral). Only those with a significant family history and those who were found to have a pathogenic BRCA gene variant or a VUS were referred to genetics and, therefore, had a family tree available for calculation of these scores.
Changing patterns of referral into a family history clinic and detection of ovarian cancer: a retrospective 10-year review
Published in Journal of Obstetrics and Gynaecology, 2022
K. G. Smallwood, S. Crockett, V. Huang, V. Cullimore, J. Davies, G. Satti, A Phillips
Between January 2009 and January 2019 273 women underwent risk reducing surgery with a median follow up of 70.5 months. Half of patients undergoing risk reducing surgery had been diagnosed with a mutation in the BRCA gene (BRCA1 n = 57, BRCA2 n = 80). A further 13 patients had another genetic diagnosis which increased their risk (11 Lynch syndrome, and two others with Li Fraumeni and Peutz Jegers Syndrome respectively). The remaining patients underwent risk reducing surgery based on their Manchester score (Evans et al. 2005). Baseline characteristics are summarised in Table 1.