Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective

Gene
Xinxin ZhangLong Yi

Abstract

Concurrence of breast cancer or thymoma with other malignancies in individual families is often observed, but the familial concurrence of breast cancer and thymoma has not yet been reported. Herein we reported a family encompassing five breast/ovarian cancer patients and two thymoma patients. Whole genome linkage analysis detected no haplotype co-segregating with both types of the tumors. In all patients with breast/ovarian cancer, genetic analysis revealed a clinically untested variant c.5141T>G in exon 18 of the BRCA1 gene, which could be a cancer-causing variant based on the functional study of Lee et al. (2010) and our current pedigree analysis. In the two thymoma patients in our family, targeted sequencing of RAD51L1 and BMP2 genes in and near the translocation site of chromosome 14 and 20 previously reported in two thymoma families, did not find any pathogenic mutation. In the present study, we identified a clinically unconfirmed BRCA1 variant segregating with breast/ovarian cancer patients in an individual family, suggesting it to be clinically functional. Our evidence, however, did not support the notion that the concurrent appearance of breast cancer and thymoma in our family represents a familial cancer syndrome cause...Continue Reading

References

Jan 1, 1993·Pediatric Radiology·W W LamC K Mok
Mar 5, 2002·American Journal of Human Genetics·Kristin A Waite, Charis Eng
Apr 16, 2002·Journal of Medical Genetics·M M de JongE G E de Vries
Mar 7, 2003·The New England Journal of Medicine·Henry T Lynch, Albert de la Chapelle
Oct 16, 2003·Journal of the National Cancer Institute·Kenneth OffitArleen D Auerbach
Feb 18, 2004·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Alexander LiedeSteven A Narod
Jan 8, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Judy E Garber, Kenneth Offit
Jun 9, 2005·Genes, Chromosomes & Cancer·Frédéric NicodèmeJoris Andrieux
Sep 12, 2007·Bioinformatics·M A LarkinD G Higgins
Jul 29, 2008·The Breast : Official Journal of the European Society of Mastology·Hussain B Mohamad, Justus P Apffelstaedt
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jul 10, 2010·Proceedings of the National Academy of Sciences of the United States of America·Tom WalshMary-Claire King
Aug 25, 2010·Familial Cancer·Omid Saeed TehraniAbdul W Mughal

❮ Previous
Next ❯

Citations


❮ 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.

Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Cancer Sequencing

Several sequencing approaches are employed to understand and examine tumor development and progression. These include whole genome as well as RNA sequencing. Here is the latest research on cancer sequencing.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Bioinformatics in Biomedicine

Bioinformatics in biomedicine incorporates computer science, biology, chemistry, medicine, mathematics and statistics. Discover the latest research on bioinformatics in biomedicine here.

Related Papers

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
P KentH F Given
© 2021 Meta ULC. All rights reserved