NDLI: Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families

Content Provider	Springer Nature Link
Author	Catucci, Irene Milgrom, Roni Kushnir, Anya Laitman, Yael Paluch Shimon, Shani Volorio, Sara Ficarazzi, Filomena Bernard, Loris Radice, Paolo Friedman, Eitan Peterlongo, Paolo
Copyright Year	2012
Abstract	Germline mutations in BRCA1 and BRCA2 account for ~30 % of inherited breast cancer. BRIP1 and PALB2 are likely genes for breast cancer susceptibility, based on their roles in maintaining cellular integrity. Indeed, few pathogenic germline mutations in both genes are reported in ethnically diverse breast cancer families. There is a paucity of data on the putative contribution of both genes to inherited breast cancer in Jewish high risk families. High risk Jewish women, none of whom was a carrier of the predominant Jewish mutations in BRCA1/BRCA2, were screened for BRIP1 germline mutations by combined denaturing gradient gel electrophoresis, high resolution melting and sequencing. Direct sequencing of exons and flanking intronic sequences was used for PALB2 mutational analysis. Overall, 149 women, all of high risk, cancer prone families of Ashkenazi origin, were genotyped for BRIP1 mutations: 127 with breast cancer, 22 with ovarian cancer. No truncating mutations were noted and one novel (p.Ala745Thr) and two previously described missense mutations were detected. For PALB2, 93 women were genotyped (87 with breast cancer) of Ashkenazi (n = 32) and non Ashkenazi Jewish origin. Fifteen sequence variants were detected, of these, none was truncating, four were not previously reported, and two (p.Asp871Gly and p.Leu1119Pro) were seemingly pathogenic based on the PolyPhen2 protein prediction algorithm. These missense mutations were not detected in any of 113 healthy Ashkenazi and 109 Moroccan, cancer free controls. In conclusion, germline mutations in BRIP1 and PALB2 contribute marginally to breast cancer susceptibility in ethnically diverse, Jewish high risk families.
Starting Page	483
Ending Page	491
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-06-13
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Germline mutations BRIP1, PALB2 Breast cancer risk Jewish population Epidemiology Biomedicine general Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer

A PALB2 germline mutation associated with hereditary breast cancer in Italy

PALB2 mutations in familial breast and pancreatic cancer

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families

PALB2: a novel inactivating mutation in a Italian breast cancer family

Frequency of germline PALB2 mutations among women with epithelial ovarian cancer

Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations

CDH1 germline mutations and hereditary lobular breast cancer

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families

Similar Documents

Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer

A PALB2 germline mutation associated with hereditary breast cancer in Italy

PALB2 mutations in familial breast and pancreatic cancer

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families

PALB2: a novel inactivating mutation in a Italian breast cancer family

Frequency of germline PALB2 mutations among women with epithelial ovarian cancer

Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations

CDH1 germline mutations and hereditary lobular breast cancer

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families