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2017 ASCO Annual Meeting!


Session: Cancer Prevention, Hereditary Genetics, and Epidemiology

Type: Oral Abstract Session

Time: Monday June 5, 8:00 AM to 11:00 AM

Location: S404

Prevalence of homologous recombination deficiency among all tumor types.

Sub-category:
Cancer Genetics

Category:
Cancer Prevention, Hereditary Genetics, and Epidemiology

Meeting:
2017 ASCO Annual Meeting

Abstract No:
1502

Citation:
J Clin Oncol 35, 2017 (suppl; abstr 1502)

Author(s): Arielle Lutterman Heeke, Tabari Baker, Filipa Lynce, Michael J. Pishvaian, Claudine Isaacs; Georgetown Lombardi Comprehensive Cancer Center, Washington, DC; Caris Life Sciences, Phoenix, AZ

Abstract Disclosures

Abstract:

Background: Triple negative breast and ovarian cancer are known to have a high frequency of homologous recombination deficiencies (HRDef). The prevalence of HRDef among all tumors is unknown. Methods: Molecular profiles of 48,733 tumors obtained from pts with bladder, breast, ovarian, pancreas, prostate, thyroid, cervical, hepatobiliary, colorectal (CRC), endometrial, gastric/esophageal (GE), head/neck, renal, non-small cell lung (NSCLC), small cell lung (SCLC), GIST, glioma, melanoma, sarcoma and unknown 1° cancers were reviewed to identify somatic pathogenic mutations (mut) in HR genes ATM, ATRX, BARD1, BLM, BRCA1/2, BRIP1, FANCA/C/D2/E/F/G/L, MRE11A, NBN, PALB2, PTEN, RAD50, RAD51, RAD51B, or WRN. Molecular profiles were generated from tumors submitted to Caris Life Sciences using multiple technologies including next generation sequencing (average read depth 500X). Results: Overall frequency of HR mut among all tumors is 11.61% (5658/48733). Cancer lineages with highest frequency of HR mut are endometrial (38.08%, 1956/5137), glioma (15.90%, 265/1667), ovarian (12.99%, 1151/8862), prostate (11.21%, 77/687), cervix (10.06%, 79/785) & breast (9.66%, 562/5818). Least commonly mutated lineages include GIST (1.50%, 3/200), sarcoma (3.12%, 55/1763), head/neck (3.70%, 24/648), hepatobiliary (4.72%, 39/827) & pancreas (5.05%, 102/2022). Frequencies of HR gene mutations are depicted in Table 1. Conclusions: HR mutations were seen in 11.61% of tumors. While the percentage of HRDef in pancreatic cancer pts is lower than what has been seen in other datasets, the percentage in breast and ovarian cancer, as well as the percentage of other tumors with HRDef, provide a path to employ HRDef-directed therapies such as platinums, but especially PARP inhibitors and newer agents such as ATRX inhibitors.

Frequency of HR gene mutations.

HR MutationFrequency (%)Lineages Mutated
ATM14.24All except (ex) head/neck
ATRX0.91Breast, cervix, CRC, endometrial, GE, GIST, glioma, melanoma, SCLC, NSCLC, ovarian, sarcoma, unknown 1°
BLM0.21CRC, GE, melanoma, NSCLC
BRCA12.70All ex GIST, renal
BRCA22.88All ex renal
BRIP10.17Melanoma, pancreas
NBN0.15Breast, hepatobiliary, CRC, GE, glioma, NSCLC, ovarian
PALB20.55All ex GIST, head/neck, prostate, renal, thyroid
PTEN6.10All ex GIST

 
Other Abstracts in this Sub-Category:

 

1. Enrichment of germline DNA-repair gene mutations in patients with colorectal cancer.

Meeting: 2017 ASCO Annual Meeting Abstract No: 1500 First Author: Saud H Aldubayan
Category: Cancer Prevention, Hereditary Genetics, and Epidemiology - Cancer Genetics

 

2. Extended follow-up in the COGENT study: A randomized study of in-person versus telephone disclosure of cancer genetic test results.

Meeting: 2017 ASCO Annual Meeting Abstract No: 1504 First Author: Angela R. Bradbury
Category: Cancer Prevention, Hereditary Genetics, and Epidemiology - Cancer Genetics

 

3. Incidence, persistence and determinants of human papillomavirus: A prospective cohort study of 10,000 HIV-negative Nigerian women.

Meeting: 2017 ASCO Annual Meeting Abstract No: 1510 First Author: Sally Nneoma Adebamowo
Category: Cancer Prevention, Hereditary Genetics, and Epidemiology - Cancer Genetics

 

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