NDLI: Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515

Content Provider	Springer Nature Link
Author	Kuligina, Ekatherina Sh. Sokolenko, Anna P. Mitiushkina, Nathalia V. Abysheva, Svetlana N. Preobrazhenskaya, Elena V. Gorodva, Tatiana V. Yanus, Grigoriy A. Togo, Alexandr V. Cherdyntseva, Nadezhda V. Bekhtereva, Svetlana A. Dixon, J. Michael Lariov, Alexey A. Kuznetsov, Sergey G. Imyanitov, Evgeny N.
Copyright Year	2012
Abstract	Virtually all known tumor predisposing genes have been identified via the analysis of familial cancer cases. Here we argue that this approach is likely to miss recessively acting cancer genes and suggest the analysis of family history-negative patients with multiple primary malignancies for identifying homozygous at-risk genotypes. We performed calculations showing that the homozygous carriers of rare recessive cancer predisposing alleles are unlikely to report a family history of the disease. We further revealed that the c.2515_2519delAAGTT homozygous mutation in a Holliday junction resolvase, GEN1, was overrepresented in women with bilateral breast cancer (BC) as compared to healthy controls [11/360 (3.1 %) vs. 18/1305 (1.4 %); odds ratio (OR) = 2.25 (1.02–4.75); p = 0.031], although this trend was not maintained in unilateral BC patients [23/1851 (1.2 %)]. Noticeably, presence of biallelic c.2515_2519delAAGTT mutation was associated with the absence of BC in mother both in bilateral and unilateral BC cases [7/239 (3.0 %) vs. 0/41 (0 %) and 21/1,558 (1.3 %) vs. 0/215 (0 %), respectively; Mantel–Haenszel p = 0.041]. Thus, this study suggests that identification of dominant and recessive cancer predisposing genes may require distinct study groups.
Starting Page	129
Ending Page	132
Page Count	4
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	12
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-10-27
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Hereditary cancer syndromes Cancer predisposition Dominant inheritance Recessive inheritance Homozygous mutations Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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