Dominant‐negative pathogenic variant BRIP1 c. 1045G >C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study-Reference-Cited by-同舟云学术

Dominant‐negative pathogenic variant BRIP1 c. 1045G >C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study

Published:2021-10-07 Issue:1 Volume:101 Page:48-54
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Flaum Nicola¹²^ORCID,Veen Elke M.¹²^ORCID,Smith Olivia¹²,Amico Stephanie¹²,Newman William G.¹²^ORCID,Crosbie Emma J.³⁴,Edmondson Richard³⁴,Smith Miriam J.¹²^ORCID,Evans D. Gareth¹²⁵⁶⁷

Affiliation:

1. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre University of Manchester Manchester UK

2. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre Manchester University NHS Foundation Trust Manchester UK

3. Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health University of Manchester Manchester UK

4. St Mary's Hospital Manchester University NHS Foundation Trust Manchester UK

5. Prevention Breast Cancer Centre and Nightingale Breast Screening Centre University Hospital of South Manchester Manchester UK

6. The Christie NHS Foundation Trust Manchester UK

7. Manchester Breast Centre, Manchester Cancer Research Centre University of Manchester Manchester UK

Funder

Cancer Research UK Manchester Centre

National Institute for Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14068

Reference33 articles.

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4. BRCAMutation Frequency and Patterns of Treatment Response inBRCAMutation–Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group

5. Carcinoma of the breast and ovary in three families;Lynch HT;Surg Gynecol Obstet,1971

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3. High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer;Genetics in Medicine;2022-12

4. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:RAD51C,RAD51D,BRIP1andPALB2;Journal of Medical Genetics;2022-11-21