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Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.

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Authors
Rafnar, Thorunn
Sigurjonsdottir, Gudbjorg R
Stacey, Simon N
Halldorsson, Gisli
Sulem, Patrick
Pardo, Luba M
Helgason, Hannes
Sigurdsson, Stefan T
Gudjonsson, Thorkell
Tryggvadottir, Laufey
Olafsdottir, Gudridur H
Jonasson, Jon G
Alexiusdottir, Kristin
Sigurdsson, Asgeir
Gudmundsson, Julius
Saemundsdottir, Jona
Sigurdsson, Jon K
Johannsdottir, Hrefna
Uitterlinden, Andre
Vermeulen, Sita H
Galesloot, Tessel E
Allain, Dawn C
Lacko, Martin
Sigurgeirsson, Bardur
Thorisdottir, Kristin
Johannsson, Oskar T
Sigurdsson, Fridbjorn
Ragnarsson, Gunnar B
Isaksson, Helgi
Hardardottir, Hronn
Gudbjartsson, Tomas
Gudbjartsson, Daniel F
Masson, Gisli
Kiemeney, Lambertus A M L
Ewart Toland, Amanda
Nijsten, Tamar
Peters, Wilbert H M
Olafsson, Jon H
Jonsson, Steinn
Thorsteinsdottir, Unnur
Thorleifsson, Gudmar
Stefansson, Kari
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Issue Date
2018-09-01

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Citation
Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin. 2018, 110(9):967-974 Journal of the National Cancer Institute
Abstract
Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population. Genotype information on 43 641 cancer patients and 370 971 control subjects from Iceland, the Netherlands, and the United States was used to assess the cancer risk profiles of K3326* and BRCA2 999del5. BRCA2 expression was assessed using RNAseq data from blood (n = 2233), as well as 52 tissues reported in the GTEx database. The cancer risks associated with K3326* are fundamentally different from those associated with 999del5. We report for the first time an association between K3326* and small cell lung cancer (odds ratio [OR] = 2.06, 95% confidence interval [CI] = 1.35 to 3.16) and squamous cell carcinoma of the skin (OR = 1.69, 95% CI = 1.26 to 2.26). Individuals homozygous for K3326* reach old age and have children. Unlike BRCA2 999del5, the K3326* allele does not affect the level of BRCA2 transcripts, and the allele is expressed to the same extent as the wild-type allele. K3326* associates primarily with cancers that have strong environmental genotoxic risk factors. Expression of the K3326* allele suggests that a variant protein may be made that retains the DNA repair capabilities important to hormone-responsive tissues but may be less efficient in responding to genotoxic stress.
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https://academic.oup.com/jnci/article/110/9/967/4995938
ae974a485f413a2113503eed53cd6c53
10.1093/jnci/djy002
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