Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers

The Breast Journal
Soley BayraktarBanu K Arun

Abstract

The genotype-phenotype correlations of the specific BRCA1 and BRCA2 mutations in multi-ethnic populations in USA have not yet been fully investigated. This study was designed to evaluate the effects of ethnicity at specific mutation locations and breast/ovarian cancer phenotypes. Our cohort included 445 women with different ethnic backgrounds who underwent BRCA genetic testing between 1997 and 2010. Known clinical and pathologic characteristics were compared with Chi-Square Analysis or Fisher's Exact test as appropriate. The three most common mutation locations in BRCA1 (exons 2, 11, and 20) and BRCA2 (exons 10, 11, and 25) genes were chosen. Prevalence of BRCA1 exon 2 mutations were significantly higher in Ashkenazi Jewish (AJ) women compared to Caucasians (41% versus 15%; p = 0.001). Similarly, AJ women with breast cancer were more likely to have BRCA1 exon 2 mutation (47% positivity in AJ women versus 0-12.5% positivity in other ethnicities; p = 0.004). Women carrying the exon 20 BRCA1 mutation had the highest probability of having combined breast and ovarian cancers compared to women carrying other exon mutations (p = 0.05). The median age at initial cancer diagnosis, phenotypic features of breast cancer tumors, and overall...Continue Reading

References

Mar 26, 1999·American Journal of Human Genetics·P HartgeM A Tucker
Jul 28, 2001·The New England Journal of Medicine·B ModanUNKNOWN National Israel Ovarian Cancer Study Group
Mar 16, 2002·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Thomas S FrankGregory C Critchfield
Oct 25, 2003·Science·Mary-Claire KingUNKNOWN New York Breast Cancer Study Group
Mar 26, 2004·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·William D FoulkesSteven A Narod
May 3, 2005·Journal of Medical Genetics·I MakriyianniS Graw
Jul 21, 2005·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Jeffrey N WeitzelSusan Neuhausen
Jul 21, 2005·European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)·G RennertF Fares
Dec 7, 2006·Journal of the National Cancer Institute·Harvey A RischSteven A Narod
Jan 30, 2007·The Breast : Official Journal of the European Society of Mastology·Antonino MusolinoAndrea Ardizzoni
Dec 27, 2007·JAMA : the Journal of the American Medical Association·Esther M JohnAlice S Whittemore
Aug 20, 2008·Breast Cancer Research : BCR·Timothy R Rebbeck, Susan M Domchek
Sep 10, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Deann P AtchleyBanu K Arun
Mar 31, 2009·Journal of Clinical Pathology·F Al-MullaG T Taylor
Apr 23, 2009·Molecular Oncology·Susan J Ramus, Simon A Gayther
May 24, 2011·Breast Cancer Research and Treatment·Veronica I Lagos-JaramilloJeffrey N Weitzel
Dec 13, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Jeffrey N WeitzelGarrett P Larson

❮ Previous
Next ❯

Citations

Mar 27, 2019·Cancers·Ainhoa MadariagaAmit M Oza
Jun 9, 2018·Journal of Translational Medicine·Yosr HamdiUNKNOWN PEC Consortium
Nov 1, 2017·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·S Intidhar Labidi-GalyIsabelle Ray-Coquard
Jan 4, 2021·Breast Cancer Research and Treatment·David D StenehjemJoseph E Biskupiak

❮ Previous
Next ❯

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

Breast Cancer: Risk Factors

Breast cancer is a multifactorial disease that is influenced by both environmental and genetic factors. Discover the latest research on the environmental and genetic risk factors for breast cancer here.

Cancer Disparities

Cancer disparities refers to differences in cancer outcomes (e.g., number of cancer cases, related health complications) across population groups.

Related Papers

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
S J RamusB A Ponder
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Nadine TungSusan M Domchek
© 2021 Meta ULC. All rights reserved