BRCA2 variant aerodigestive cancer risk

K Gruber - The Lancet Oncology, 2015 - thelancet.com
A rare BRCA2 genetic variant, known as rs11571833 (K3326X), is strongly associated with
squamous-cell cancers of the upper aerodigestive tract (UADT), a new study reports. BRCA2 …

A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer

M Delahaye-Sourdeix, D Anantharaman… - Journal of the …, 2015 - academic.oup.com
Deleterious BRCA2 genetic variants markedly increase risk of developing breast cancer. A
rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a …

[引用][C] BRCA1 and BRCA2 mutation type associated with cancer risk

TK Burki - The Lancet Oncology, 2015 - thelancet.com
An observational study examined the records of 19 581 women with BRCA1 mutations—of
whom 9052 (46%) developed breast cancer and 1041 (12%) ovarian cancer—and 11 900 …

BRCA testing launched for people of Jewish ancestry in England

P Venkatesan - The Lancet Oncology, 2024 - thelancet.com
On Feb 1, 2024, the National Health Service (NHS) in England launched a national BRCA
gene testing programme for all adults with Jewish ancestry (ie, at least one Jewish …

Differences in phenotypic expression of a new BRCA1 mutation in identical twins

O Diez, J Brunet, J Sanz, E Del Rio, MC Alonso… - The Lancet, 1997 - thelancet.com
Inherited mutations in the BRCA1 gene confer a predisposition to breast and ovarian cancer.
1 We report the results of BRCA1-mutation screening in a family at high risk of breast and …

Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma

MR Akbari, R Malekzadeh, D Nasrollahzadeh… - Oncogene, 2008 - nature.com
The incidence of esophageal squamous cell carcinoma (ESCC) is very high among the
Turkmen population of Iran. Family studies suggest a genetic component to the disease …

[引用][C] BRCA mutations and risk of uterine cancer

S Tanday - The Lancet Oncology, 2016 - thelancet.com
Women who carry the BRCA gene mutation that increases their risk of breast and ovarian
cancers might also be at higher risk of developing an aggressive form of uterine cancer …

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

T Rafnar, GR Sigurjonsdottir, SN Stacey… - JNCI: Journal of the …, 2018 - academic.oup.com
Background 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) …

[引用][C] Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

V D'Argenio, MV Esposito, JA Gilder, G Frisso… - Cancer, 2014 - Wiley Online Library
Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 can increase the
risk of breast and/or ovarian cancer up to 20-fold. 1 Hundreds of different BRCA2 sequence …

BRCA1 and BRCA2: penetrating the clinical arena

WD Foulkes - The Lancet, 1998 - thelancet.com
See page 1337 The identification of BRCA1 in 19941 and BRCA2 in 19952 were landmarks
in the investigation of the genetics of breast cancer. Even before the genes were identified, it …