Literature DB >> 34277102

A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1.

Marzhan Aitmagambetova1, Gaziza Smagulova1, Yerbol Bekmukhambetov2, Oksana Zavalyonnaya1, Anar Tulyaeva1.   

Abstract

BACKGROUND: The incidence of breast cancer is growing rapidly worldwide (1.7 million new cases and 600,000 deaths per year). Moreover, about 10% of breast cancer cases occur in young women under the age of 45. The aim of the study was to report a rare case of BRCA 1-mutated breast cancer in a young patient with multiple affected relatives. Breast cancer is due to a genetic predisposition with BRCA1 and BRCA2 representing a significant proportion of families with a very high risk of developing the disease over a lifetime of up to 50-80%. CASE
PRESENTATION: In this paper we report a case of a 29-year-old woman with a confirmed diagnosis of left breast carcinoma.
CONCLUSIONS: Mutations of the BRCA1 gene were revealed in the patient, in two of her sisters, brother and brother's daughter.
© 2021 Greater Poland Cancer Centre.

Entities:  

Keywords:  BRCA mutation; breast cancer; case report; heredity

Year:  2021        PMID: 34277102      PMCID: PMC8281913          DOI: 10.5603/RPOR.a2021.0069

Source DB:  PubMed          Journal:  Rep Pract Oncol Radiother        ISSN: 1507-1367


  30 in total

1.  BRCA2 is required for homology-directed repair of chromosomal breaks.

Authors:  M E Moynahan; A J Pierce; M Jasin
Journal:  Mol Cell       Date:  2001-02       Impact factor: 17.970

2.  Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation.

Authors:  Bella Kaufman; Ronnie Shapira-Frommer; Rita K Schmutzler; M William Audeh; Michael Friedlander; Judith Balmaña; Gillian Mitchell; Georgeta Fried; Salomon M Stemmer; Ayala Hubert; Ora Rosengarten; Mariana Steiner; Niklas Loman; Karin Bowen; Anitra Fielding; Susan M Domchek
Journal:  J Clin Oncol       Date:  2014-11-03       Impact factor: 44.544

3.  BRCA1 required for transcription-coupled repair of oxidative DNA damage.

Authors:  L C Gowen; A V Avrutskaya; A M Latour; B H Koller; S A Leadon
Journal:  Science       Date:  1998-08-14       Impact factor: 47.728

4.  Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

Authors:  J Peto; N Collins; R Barfoot; S Seal; W Warren; N Rahman; D F Easton; C Evans; J Deacon; M R Stratton
Journal:  J Natl Cancer Inst       Date:  1999-06-02       Impact factor: 13.506

5.  BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer.

Authors:  Bakytbek Apsalikov; Zukhra Manambaeva; Erlan Ospanov; Meruyert Massabayeva; Kuantkan Zhabagin; Zhanar Zhagiparova; Vladymir Maximov; Elena Voropaeva; Kazbek Apsalikov; Tatiana Belikhina; Ramil Abdrahmanov; Elena Cherepkova; Sayat Tanatarov; Adilzhan Massadykov; Naylia Urazalina
Journal:  Asian Pac J Cancer Prev       Date:  2016

6.  Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core.

Authors:  F J Couch; B L Weber
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

7.  Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy.

Authors:  Tomasz Byrski; Jacek Gronwald; Tomasz Huzarski; Ewa Grzybowska; Magdalena Budryk; Malgorzata Stawicka; Tomasz Mierzwa; Marek Szwiec; Rafal Wisniowski; Monika Siolek; Rebecca Dent; Jan Lubinski; Steven Narod
Journal:  J Clin Oncol       Date:  2009-12-14       Impact factor: 44.544

8.  Comprehensive analysis of oncogenic effects of PIK3CA mutations in human mammary epithelial cells.

Authors:  Haijun Zhang; Gang Liu; Michele Dziubinski; Zengquan Yang; Stephen P Ethier; Guojun Wu
Journal:  Breast Cancer Res Treat       Date:  2007-12-12       Impact factor: 4.872

Review 9.  Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes.

Authors:  Qing Wang
Journal:  Acta Pharmacol Sin       Date:  2015-11-30       Impact factor: 6.150

Review 10.  The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance.

Authors:  Andrew D Skol; Mark M Sasaki; Kenan Onel
Journal:  Breast Cancer Res       Date:  2016-10-03       Impact factor: 6.466

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